Variant report

Variant	nsv1055154
Chromosome Location	chr21:45148076-45203162
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3198)
CpG islands
(count:1895)
Chromatin interactive
region (count:169)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:3198 , 50 per page) page: 1 2 3 4 5 6 7 ... 64

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:45202843-45203460	HepG2	liver:	n/a	chr21:45202909-45202925
2	ARID3A	chr21:45188105-45188353	K562	blood:	n/a	n/a
3	ARID3A	chr21:45148603-45148839	HepG2	liver:	n/a	n/a
4	ARID3A	chr21:45196143-45196444	K562	blood:	n/a	n/a
5	ARID3A	chr21:45148259-45148806	K562	blood:	n/a	n/a
6	ATF1	chr21:45158438-45158813	K562	blood:	n/a	n/a
7	ATF1	chr21:45148262-45148872	K562	blood:	n/a	n/a
8	ATF2	chr21:45148245-45148490	GM12878	blood:	n/a	n/a
9	ATF2	chr21:45148223-45148920	GM12878	blood:	n/a	n/a
10	ATF2	chr21:45148457-45148916	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr21:45148520-45148802	GM12878	blood:	n/a	n/a
12	ATF2	chr21:45148518-45148902	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF3	chr21:45148013-45148760	K562	blood:	n/a	chr21:45148190-45148199
14	ATF3	chr21:45188022-45188329	K562	blood:	n/a	n/a
15	ATF3	chr21:45148175-45148679	A549	lung:	n/a	chr21:45148190-45148199
16	ATF3	chr21:45195895-45196764	K562	blood:	n/a	chr21:45196025-45196034 chr21:45196230-45196239 chr21:45196219-45196239 chr21:45196230-45196250
17	ATF3	chr21:45195941-45196318	H1-hESC	embryonic stem cell:	n/a	chr21:45196025-45196034 chr21:45196230-45196239 chr21:45196219-45196239 chr21:45196230-45196250
18	ATF3	chr21:45196019-45196381	GM12878	blood:	n/a	chr21:45196025-45196034 chr21:45196230-45196239 chr21:45196219-45196239 chr21:45196230-45196250
19	ATF3	chr21:45160710-45160988	A549	lung:	n/a	chr21:45160849-45160862
20	ATF3	chr21:45195982-45196319	H1-hESC	embryonic stem cell:	n/a	chr21:45196025-45196034 chr21:45196230-45196239 chr21:45196219-45196239 chr21:45196230-45196250
21	ATF3	chr21:45148027-45148828	K562	blood:	n/a	chr21:45148190-45148199
22	ATF3	chr21:45187052-45187583	A549	lung:	n/a	n/a
23	ATF3	chr21:45196038-45196389	HepG2	liver:	n/a	chr21:45196230-45196239 chr21:45196219-45196239 chr21:45196230-45196250
24	ATF3	chr21:45196115-45196300	GM12878	blood:	n/a	chr21:45196230-45196239 chr21:45196219-45196239 chr21:45196230-45196250
25	ATF3	chr21:45188030-45188328	K562	blood:	n/a	n/a
26	BACH1	chr21:45148278-45148817	H1-hESC	embryonic stem cell:	n/a	n/a
27	BACH1	chr21:45188039-45188521	H1-hESC	embryonic stem cell:	n/a	chr21:45188220-45188234
28	BACH1	chr21:45199006-45199090	H1-hESC	embryonic stem cell:	n/a	n/a
29	BACH1	chr21:45160396-45161112	H1-hESC	embryonic stem cell:	n/a	n/a
30	BACH1	chr21:45195333-45195533	K562	blood:	n/a	n/a
31	BACH1	chr21:45161393-45161618	H1-hESC	embryonic stem cell:	n/a	n/a
32	BACH1	chr21:45187830-45188675	K562	blood:	n/a	chr21:45188220-45188234
33	BACH1	chr21:45148326-45148831	K562	blood:	n/a	n/a
34	BACH1	chr21:45149047-45149169	H1-hESC	embryonic stem cell:	n/a	n/a
35	BACH1	chr21:45195901-45195960	K562	blood:	n/a	n/a
36	BACH1	chr21:45195619-45196755	H1-hESC	embryonic stem cell:	n/a	n/a
37	BATF	chr21:45148256-45148467	GM12878	blood:	n/a	chr21:45148407-45148417
38	BATF	chr21:45148259-45148908	GM12878	blood:	n/a	chr21:45148407-45148417
39	BCL11A	chr21:45148279-45148902	GM12878	blood:	n/a	chr21:45148448-45148461
40	BCL11A	chr21:45174931-45175334	GM12878	blood:	n/a	n/a
41	BCL3	chr21:45174890-45175278	GM12878	blood:	n/a	n/a
42	BCL3	chr21:45185940-45189629	A549	lung:	n/a	chr21:45188728-45188737
43	BCL3	chr21:45190183-45190590	A549	lung:	n/a	n/a
44	BCL3	chr21:45159769-45160260	A549	lung:	n/a	chr21:45159789-45159802
45	BCL3	chr21:45174902-45175520	GM12878	blood:	n/a	n/a
46	BCL3	chr21:45191002-45192095	A549	lung:	n/a	n/a
47	BCL3	chr21:45191058-45191601	A549	lung:	n/a	n/a
48	BCL3	chr21:45164262-45164666	GM12878	blood:	n/a	n/a
49	BCL3	chr21:45160274-45161086	A549	lung:	n/a	chr21:45160409-45160418
50	BCL3	chr21:45186963-45187495	GM12878	blood:	n/a	n/a

(count:1895 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:45176069-45176119	A549	lung:	n/a
2	chr21:45177726-45177776	HCPEpiC	choroid plexus:	n/a
3	chr21:45193172-45193222	MCF10A-Er-Src	breast:	n/a
4	chr21:45149141-45149191	HCM	heart:	n/a
5	chr21:45176069-45176119	A549	lung:	n/a
6	chr21:45177726-45177776	HCPEpiC	choroid plexus:	n/a
7	chr21:45193172-45193222	MCF10A-Er-Src	breast:	n/a
8	chr21:45149141-45149191	HCM	heart:	n/a
9	chr21:45198592-45198642	AG09309	skin:	n/a
10	chr21:45196311-45196361	HPAEpiC	pulmonary alveolar:	n/a
11	chr21:45149038-45149088	SAEC	small airway:	n/a
12	chr21:45161359-45161409	K562	blood:	n/a
13	chr21:45153009-45153059	NB4	blood:	n/a
14	chr21:45196136-45196186	GM06990	blood:	n/a
15	chr21:45196136-45196186	HIPEpiC	eye:	n/a
16	chr21:45161359-45161409	H1-hESC	embryonic stem cell:	embryo
17	chr21:45149398-45149448	Jurkat	blood:	n/a
18	chr21:45163611-45163661	ProgFib	skin:	n/a
19	chr21:45196586-45196636	MCF10A-Er-Src	breast:	n/a
20	chr21:45149038-45149088	AoSMC	blood vessel:	n/a
21	chr21:45196239-45196289	SKMC	muscle:	n/a
22	chr21:45198592-45198642	Jurkat	blood:	n/a
23	chr21:45175448-45175498	HAEpiC	amniotic membrane:	n/a
24	chr21:45161415-45161465	H1-hESC	embryonic stem cell:	embryo
25	chr21:45199094-45199144	Jurkat	blood:	n/a
26	chr21:45148879-45148929	HCF	heart:	n/a
27	chr21:45149398-45149448	SK-N-MC	brain:	n/a
28	chr21:45196584-45196634	ProgFib	skin:	n/a
29	chr21:45196586-45196636	HMEC	breast:	n/a
30	chr21:45161359-45161409	HEK293	kidney:	embryo
31	chr21:45149373-45149423	HPAEpiC	pulmonary alveolar:	n/a
32	chr21:45196136-45196186	HUVEC	blood vessel:	n/a
33	chr21:45176447-45176497	H1-hESC	embryonic stem cell:	embryo
34	chr21:45196239-45196289	Caco-2	colon:	n/a
35	chr21:45193984-45194034	AG04449	skin:	fetal
36	chr21:45149038-45149088	U87	brain:	n/a
37	chr21:45148694-45148744	GM12891	blood:	n/a
38	chr21:45176069-45176119	HRPEpiC	eye:	n/a
39	chr21:45175448-45175498	NH-A	brain:	n/a
40	chr21:45149373-45149423	GM12891	blood:	n/a
41	chr21:45148332-45148382	NH-A	brain:	n/a
42	chr21:45177538-45177588	A549	lung:	n/a
43	chr21:45193172-45193222	BE2_C	brain:	n/a
44	chr21:45163611-45163661	K562	blood:	n/a
45	chr21:45148879-45148929	NHDF-neo	bronchial:	n/a
46	chr21:45177538-45177588	HRCEpiC	kidney:	n/a
47	chr21:45196239-45196289	HRE	kidney:	n/a
48	chr21:45149141-45149191	MCF10A-Er-Src	breast:	n/a
49	chr21:45148864-45148914	MCF10A-Er-Src	breast:	n/a
50	chr21:45179871-45179921	NH-A	brain:	n/a

(count:169 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr21:45138749..45140625-chr21:45164594..45167451,2	MCF-7	breast:
2	chr21:45141572..45144183-chr21:45194386..45198670,4	K562	blood:
3	chr21:45164290..45167394-chr21:45171722..45175273,3	K562	blood:
4	chr21:45165363..45167088-chr21:45194223..45196266,2	MCF-7	breast:
5	chr21:45202942..45205405-chr21:45231641..45234246,2	K562	blood:
6	chr21:45165894..45167884-chr21:45171722..45174273,2	K562	blood:
7	chr21:45159485..45162369-chr21:45196549..45198074,2	MCF-7	breast:
8	chr21:45147794..45149532-chr21:45185305..45188143,2	K562	blood:
9	chr21:45177169..45178998-chr21:45188478..45190913,2	MCF-7	breast:
10	chr21:45194435..45196529-chr21:45430535..45433342,2	MCF-7	breast:
11	chr21:45173393..45176299-chr21:45189715..45192541,2	MCF-7	breast:
12	chr21:45176543..45179179-chr21:45179807..45182752,3	K562	blood:
13	chr21:45138878..45139799-chr21:45148124..45149007,3	K562	blood:
14	chr21:45163956..45166849-chr21:45180813..45183270,2	K562	blood:
15	chr21:45175067..45176952-chr21:45182703..45184647,2	MCF-7	breast:
16	chr21:45176491..45178777-chr21:45179789..45182236,2	K562	blood:
17	chr21:45145345..45148604-chr21:45164623..45167520,3	MCF-7	breast:
18	chr21:45156965..45158670-chr21:45174699..45176799,2	K562	blood:
19	chr21:45170373..45174526-chr21:45175102..45180278,8	K562	blood:
20	chr21:45165588..45167444-chr21:45177367..45179445,2	MCF-7	breast:
21	chr21:45151886..45156250-chr21:45192617..45197213,5	MCF-7	breast:
22	chr21:45153763..45156767-chr21:45158365..45161211,5	MCF-7	breast:
23	chr21:45176365..45178705-chr21:45190387..45191910,2	MCF-7	breast:
24	chr21:45168554..45170321-chr21:45172450..45175239,2	MCF-7	breast:
25	chr21:45195369..45196038-chr21:45208887..45209592,2	MCF-7	breast:
26	chr21:45173766..45177589-chr21:45178136..45181222,4	MCF-7	breast:
27	chr21:45176799..45180649-chr21:45186150..45189373,7	K562	blood:
28	chr21:45077768..45080499-chr21:45194775..45197148,2	MCF-7	breast:
29	chr21:45172846..45174492-chr21:45176032..45177914,2	MCF-7	breast:
30	chr21:45176543..45179179-chr21:45179807..45182752,3	K562	blood:
31	chr21:45159505..45163027-chr21:45178422..45181506,3	MCF-7	breast:
32	chr21:45146831..45149878-chr21:45189453..45192393,3	K562	blood:
33	chr21:45193334..45196312-chr21:45207752..45211007,4	MCF-7	breast:
34	chr21:45147195..45149472-chr21:45196303..45198972,2	K562	blood:
35	chr21:45077926..45080845-chr21:45188689..45190434,2	K562	blood:
36	chr21:45158524..45162841-chr21:45165683..45171048,8	K562	blood:
37	chr21:45193906..45196164-chr21:45723506..45725862,2	K562	blood:
38	chr21:45174354..45177532-chr21:45180309..45182041,3	MCF-7	breast:
39	chr21:45147353..45150091-chr21:45163613..45167274,4	K562	blood:
40	chr21:45192905..45195528-chr21:45235425..45238416,2	MCF-7	breast:
41	chr21:45146930..45150669-chr21:45163613..45169103,5	K562	blood:
42	chr21:45185836..45188296-chr21:45517266..45520061,2	K562	blood:
43	chr21:45188049..45190841-chr21:45206908..45209310,2	MCF-7	breast:
44	chr21:45146947..45149079-chr21:45186898..45189138,2	MCF-7	breast:
45	chr21:45138491..45140784-chr21:45174555..45177027,2	MCF-7	breast:
46	chr21:45180145..45181960-chr21:45187482..45190363,2	MCF-7	breast:
47	chr21:45154618..45156575-chr21:45170589..45173066,2	K562	blood:
48	chr21:45186409..45188413-chr21:45222813..45224847,2	MCF-7	breast:
49	chr21:45188590..45190206-chr21:45212982..45214484,2	MCF-7	breast:
50	chr21:45138604..45142209-chr21:45185832..45189641,4	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RRP1-2	chr21:45173464-45173600	NONHSAT082444
2	lnc-RRP1-2	chr21:45175358-45175645	NONHSAT082444
3	lnc-RRP1B-1	chr21:45152020-45152146	ENSG00000241238.1
4	lnc-RRP1-1	chr21:45203004-45203454	NONHSAT082450
5	lnc-RRP1-2	chr21:45175832-45176043	NONHSAT082444

No data

(count:2 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	PDXK	hsa-miR-193b-3p	chr21:45157285-45157305
2	PDXK	hsa-miR-24-3p	chr21:45181006-45181013

Variant related genes	Relation type
TMEM97P1	TF binding region
CSTB	TF binding region
PDXK	TF binding region
TMEM97P1	CpG island
CSTB	CpG island
PDXK	CpG island
ENSG00000083896	chromatin interactions
ENSG00000215458	chromatin interactions
ENSG00000160194	chromatin interactions
ENSG00000160209	chromatin interactions
ENSG00000160218	chromatin interactions
ENSG00000156304	chromatin interactions
ENSG00000160213	chromatin interactions
ENSG00000160193	chromatin interactions
ENSG00000163041	chromatin interactions
ENSG00000156521	chromatin interactions
ENSG00000197381	chromatin interactions
ENSG00000123595	chromatin interactions
ENSG00000160207	chromatin interactions
ENSG00000160214	chromatin interactions
ENSG00000141959	chromatin interactions
ENSG00000235374	chromatin interactions
ENSG00000241945	chromatin interactions
ENSG00000066135	chromatin interactions
ENSG00000160208	chromatin interactions
ENSG00000236772	chromatin interactions
ENSG00000234030	chromatin interactions
ENSG00000268856	chromatin interactions

Extended variants
information (count: 2841 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:2841 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539827123	chr21:45148082-45148083	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs188020887	chr21:45148114-45148115	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs60286367	chr21:45148139-45148140	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs2299805	chr21:45148308-45148309	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs530347989	chr21:45148344-45148345	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs548750116	chr21:45148392-45148393	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs117204364	chr21:45148455-45148456	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs528209423	chr21:45148456-45148457	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs546329837	chr21:45148462-45148463	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs570918678	chr21:45148483-45148484	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs528179042	chr21:45148506-45148507	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs538236687	chr21:45148511-45148512	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs373815404	chr21:45148520-45148521	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs3831650	chr21:45148528-45148529	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs397745972	chr21:45148532-45148533	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs113953812	chr21:45148598-45148599	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs568788536	chr21:45148625-45148626	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs536091891	chr21:45148646-45148647	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs564872890	chr21:45148664-45148665	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs117608778	chr21:45148665-45148666	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs572904635	chr21:45148678-45148679	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs180877101	chr21:45148681-45148682	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs139425672	chr21:45148690-45148691	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs559085141	chr21:45148702-45148703	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs372399448	chr21:45148703-45148704	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs373361957	chr21:45148758-45148759	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs375484138	chr21:45148777-45148778	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs563211465	chr21:45148796-45148797	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs111919944	chr21:45148851-45148852	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs117867619	chr21:45148880-45148881	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs112103244	chr21:45148944-45148945	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs368842430	chr21:45148956-45148957	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs6518317	chr21:45149025-45149026	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs542574857	chr21:45149035-45149036	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs375816222	chr21:45149054-45149055	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs564633187	chr21:45149057-45149058	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs532007112	chr21:45149082-45149083	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs73373276	chr21:45149089-45149090	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs568478848	chr21:45149096-45149097	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs115081493	chr21:45149099-45149100	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs548145561	chr21:45149104-45149105	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs566700490	chr21:45149132-45149133	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs6518318	chr21:45149133-45149134	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs552957993	chr21:45149168-45149169	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs183813216	chr21:45149195-45149196	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs115292482	chr21:45149205-45149206	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs146783080	chr21:45149207-45149208	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs149882540	chr21:45149224-45149225	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs76749315	chr21:45149229-45149230	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs376698372	chr21:45149301-45149302	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Down syndrome	17412756	CNVD
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Renal cell carcinoma	19461508	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Melanoma	18172304	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Wilms tumour	21544195	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute myeloid leukemia	16864856	CNVD
Mental retardation	21031080	CNVD
Polymicrogyria	21031080	CNVD
periventricular nodular heterotopia	21031080	CNVD
Myelodysplastic syndrome	21606161	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21858162	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Ewing''s sarcoma	21437220	CNVD
Lung adenocarcinoma	17086460	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute myeloid leukemia	21358987	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	23341502	CNVD
Ovarian cancer	21720365	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Neuroblastoma	20406844	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Cholangiocarcinoma	16830362	CNVD
Down syndrome	17334655	CNVD
Neuroticism	17667963	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Autoimmune polyendocrine syndrome	18200029	CNVD
Prostate cancer	19363497	CNVD
Lung cancer	17086460	CNVD
Olfactory neuroblastoma	18408657	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21509527	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:3205 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45141200-45148600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr21:45144000-45148800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr21:45144200-45148400	Enhancers	Pancreas	Pancrea
4	chr21:45144400-45148200	Enhancers	Primary B cells from peripheral blood	blood
5	chr21:45144800-45148200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr21:45145200-45148200	Enhancers	NHDF-Ad	bronchial
7	chr21:45145200-45148400	Enhancers	HUVEC	blood vessel
8	chr21:45145200-45149400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr21:45145200-45149600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr21:45145400-45148400	Enhancers	Esophagus	oesophagus
11	chr21:45145400-45148400	Enhancers	Lung	lung
12	chr21:45145600-45148200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr21:45145600-45148200	Enhancers	Left Ventricle	heart
14	chr21:45145600-45148200	Enhancers	Ovary	ovary
15	chr21:45145600-45148200	Enhancers	Right Ventricle	heart
16	chr21:45145600-45148600	Enhancers	Stomach Mucosa	stomach
17	chr21:45145600-45148800	Enhancers	Placenta Amnion	Placenta Amnion
18	chr21:45146000-45163600	Weak transcription	Dnd41	blood
19	chr21:45146400-45148400	Enhancers	Aorta	Aorta
20	chr21:45146400-45148400	Enhancers	Psoas Muscle	Psoas
21	chr21:45146400-45148400	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr21:45146600-45148200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr21:45146600-45148200	Enhancers	Fetal Brain Male	brain
24	chr21:45146600-45148200	Enhancers	Fetal Heart	heart
25	chr21:45146600-45148200	Enhancers	Right Atrium	heart
26	chr21:45146600-45148200	Bivalent Enhancer	Thymus	Thymus
27	chr21:45146600-45148400	Flanking Active TSS	Brain Hippocampus Middle	brain
28	chr21:45146600-45148400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
29	chr21:45146600-45148800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr21:45146600-45148800	Flanking Active TSS	Hela-S3	cervix
31	chr21:45146600-45149400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr21:45146600-45149400	Enhancers	Small Intestine	intestine
33	chr21:45146600-45149600	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr21:45146600-45149600	Enhancers	Gastric	stomach
35	chr21:45146800-45148200	Weak transcription	Fetal Kidney	kidney
36	chr21:45146800-45148400	Flanking Active TSS	HepG2	liver
37	chr21:45146800-45148400	Flanking Active TSS	HSMM	muscle
38	chr21:45146800-45149400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr21:45146800-45149600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr21:45147000-45148200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr21:45147000-45148200	Enhancers	Fetal Lung	lung
42	chr21:45147000-45148200	Bivalent Enhancer	Fetal Thymus	thymus
43	chr21:45147000-45148400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr21:45147000-45148400	Flanking Active TSS	Osteobl	bone
45	chr21:45147000-45148800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
46	chr21:45147000-45149200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
47	chr21:45147200-45148200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr21:45147200-45148400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr21:45147400-45148200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr21:45147400-45148200	Enhancers	Liver	Liver

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