Variant report

Variant	nsv1058550
Chromosome Location	chr21:46227163-46317934
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4073)
CpG islands
(count:2811)
Chromatin interactive
region (count:317)
LncRNA
region (count:13)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

(count:4073 , 50 per page) page: 1 2 3 4 5 6 7 ... 82

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:46237929-46238223	K562	blood:	n/a	chr21:46237956-46237971
2	ARID3A	chr21:46274356-46275165	K562	blood:	n/a	n/a
3	ARID3A	chr21:46288985-46289262	K562	blood:	n/a	n/a
4	ARID3A	chr21:46300751-46301158	K562	blood:	n/a	n/a
5	ARID3A	chr21:46300347-46300358	HepG2	liver:	n/a	n/a
6	ARID3A	chr21:46297883-46299174	HepG2	liver:	n/a	n/a
7	ARID3A	chr21:46293586-46293745	HepG2	liver:	n/a	n/a
8	ARID3A	chr21:46300636-46301447	HepG2	liver:	n/a	n/a
9	ARID3A	chr21:46292067-46292425	K562	blood:	n/a	n/a
10	ARID3A	chr21:46291881-46292139	HepG2	liver:	n/a	n/a
11	ARID3A	chr21:46298661-46299094	K562	blood:	n/a	n/a
12	ARID3A	chr21:46289809-46290578	HepG2	liver:	n/a	n/a
13	ARID3A	chr21:46286897-46286938	HepG2	liver:	n/a	n/a
14	ATF1	chr21:46298620-46299000	K562	blood:	n/a	n/a
15	ATF1	chr21:46253613-46254117	K562	blood:	n/a	n/a
16	ATF1	chr21:46274288-46275392	K562	blood:	n/a	n/a
17	ATF1	chr21:46289760-46290073	K562	blood:	n/a	n/a
18	ATF1	chr21:46300774-46301448	K562	blood:	n/a	n/a
19	ATF3	chr21:46237862-46238262	K562	blood:	n/a	chr21:46238179-46238188 chr21:46238023-46238043 chr21:46238113-46238127
20	ATF3	chr21:46237954-46238121	GM12878	blood:	n/a	chr21:46238023-46238043
21	ATF3	chr21:46256363-46256768	K562	blood:	n/a	n/a
22	ATF3	chr21:46274661-46275231	K562	blood:	n/a	n/a
23	ATF3	chr21:46237857-46238292	K562	blood:	n/a	chr21:46238179-46238188 chr21:46238023-46238043 chr21:46238113-46238127
24	ATF3	chr21:46298541-46298990	K562	blood:	n/a	n/a
25	ATF3	chr21:46237844-46238162	HepG2	liver:	n/a	chr21:46238023-46238043 chr21:46238113-46238127
26	ATF3	chr21:46289704-46290140	K562	blood:	n/a	n/a
27	ATF3	chr21:46237878-46238210	K562	blood:	n/a	chr21:46238179-46238188 chr21:46238023-46238043 chr21:46238113-46238127
28	ATF3	chr21:46289827-46290075	K562	blood:	n/a	n/a
29	ATF3	chr21:46237913-46238122	H1-hESC	embryonic stem cell:	n/a	chr21:46238023-46238043
30	ATF3	chr21:46237832-46238249	GM12878	blood:	n/a	chr21:46238179-46238188 chr21:46238023-46238043 chr21:46238113-46238127
31	BACH1	chr21:46238089-46238283	H1-hESC	embryonic stem cell:	n/a	n/a
32	BACH1	chr21:46292351-46292654	K562	blood:	n/a	n/a
33	BACH1	chr21:46286704-46287019	K562	blood:	n/a	n/a
34	BACH1	chr21:46237425-46237653	H1-hESC	embryonic stem cell:	n/a	n/a
35	BACH1	chr21:46315890-46316152	H1-hESC	embryonic stem cell:	n/a	n/a
36	BACH1	chr21:46265955-46266148	H1-hESC	embryonic stem cell:	n/a	n/a
37	BACH1	chr21:46312701-46312873	H1-hESC	embryonic stem cell:	n/a	n/a
38	BACH1	chr21:46274762-46275095	K562	blood:	n/a	n/a
39	BACH1	chr21:46295482-46295673	K562	blood:	n/a	n/a
40	BACH1	chr21:46239525-46239595	K562	blood:	n/a	n/a
41	BACH1	chr21:46293766-46294297	H1-hESC	embryonic stem cell:	n/a	n/a
42	BACH1	chr21:46286653-46287066	H1-hESC	embryonic stem cell:	n/a	n/a
43	BATF	chr21:46300846-46301135	GM12878	blood:	n/a	n/a
44	BATF	chr21:46312714-46312963	GM12878	blood:	n/a	n/a
45	BATF	chr21:46300837-46301167	GM12878	blood:	n/a	n/a
46	BCL3	chr21:46270884-46271087	GM12878	blood:	n/a	n/a
47	BCL3	chr21:46315730-46316197	GM12878	blood:	n/a	n/a
48	BCL3	chr21:46315804-46316235	GM12878	blood:	n/a	n/a
49	BCL3	chr21:46317916-46318300	GM12878	blood:	n/a	n/a
50	BCL3	chr21:46289724-46290106	GM12878	blood:	n/a	n/a

(count:2811 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:46306794-46306844	GM12878	blood:	n/a
2	chr21:46269191-46269241	HCM	heart:	n/a
3	chr21:46293646-46293696	HCT-116	colon:	n/a
4	chr21:46306794-46306844	NT2-D1	testis:	n/a
5	chr21:46289921-46289971	NHDF-neo	bronchial:	n/a
6	chr21:46306794-46306844	GM12878	blood:	n/a
7	chr21:46269191-46269241	HCM	heart:	n/a
8	chr21:46293646-46293696	HCT-116	colon:	n/a
9	chr21:46306794-46306844	NT2-D1	testis:	n/a
10	chr21:46289921-46289971	NHDF-neo	bronchial:	n/a
11	chr21:46306688-46306738	H1-hESC	embryonic stem cell:	embryo
12	chr21:46269016-46269066	HRPEpiC	eye:	n/a
13	chr21:46232829-46232879	NH-A	brain:	n/a
14	chr21:46291868-46291918	ECC-1	luminal epithelium:	n/a
15	chr21:46237743-46237793	AG04449	skin:	fetal
16	chr21:46269191-46269241	HL-60	blood:	n/a
17	chr21:46294356-46294406	MCF10A-Er-Src	breast:	n/a
18	chr21:46293672-46293722	HCF	heart:	n/a
19	chr21:46306794-46306844	IMR90	lung:	fetal
20	chr21:46235052-46235102	HCM	heart:	n/a
21	chr21:46269126-46269176	HRE	kidney:	n/a
22	chr21:46238781-46238831	HAEpiC	amniotic membrane:	n/a
23	chr21:46238804-46238854	HL-60	blood:	n/a
24	chr21:46293807-46293857	HIPEpiC	eye:	n/a
25	chr21:46239952-46240002	AG10803	skin:	n/a
26	chr21:46306700-46306750	HEK293	kidney:	embryo
27	chr21:46293563-46293613	A549	lung:	n/a
28	chr21:46232829-46232879	BE2_C	brain:	n/a
29	chr21:46269191-46269241	HCT-116	colon:	n/a
30	chr21:46232829-46232879	LNCaP	prostate:	n/a
31	chr21:46266030-46266080	SK-N-SH	brain:	n/a
32	chr21:46294058-46294108	NB4	blood:	n/a
33	chr21:46235052-46235102	AG09309	skin:	n/a
34	chr21:46292084-46292134	NB4	blood:	n/a
35	chr21:46294058-46294108	GM12891	blood:	n/a
36	chr21:46238781-46238831	RPTEC	kidney:	n/a
37	chr21:46308308-46308358	HIPEpiC	eye:	n/a
38	chr21:46289921-46289971	U87	brain:	n/a
39	chr21:46271421-46271471	HPAEpiC	pulmonary alveolar:	n/a
40	chr21:46267096-46267146	AG09319	gingival:	n/a
41	chr21:46241005-46241055	HCF	heart:	n/a
42	chr21:46293646-46293696	NB4	blood:	n/a
43	chr21:46295113-46295163	GM06990	blood:	n/a
44	chr21:46236351-46236401	HCM	heart:	n/a
45	chr21:46294356-46294406	SK-N-SH	brain:	n/a
46	chr21:46236351-46236401	BJ	skin:	n/a
47	chr21:46294185-46294235	BE2_C	brain:	n/a
48	chr21:46294237-46294287	PFSK-1	brain:	n/a
49	chr21:46269126-46269176	HEEpiC	esophagus:	n/a
50	chr21:46292527-46292577	HCT-116	colon:	n/a

(count:317 , 50 per page) page: 1 2 3 4 5 6 7

No.	Distal block	Cell Line	Cell type
1	chr21:46300926..46303863-chr21:46305072..46307882,3	K562	blood:
2	chr21:46235456..46237470-chr21:46274330..46277506,4	K562	blood:
3	chr21:46302013..46304883-chr21:46310101..46313045,3	K562	blood:
4	chr21:46254101..46256676-chr21:46273312..46275198,2	K562	blood:
5	chr21:46265002..46266574-chr21:46269754..46272322,2	MCF-7	breast:
6	chr21:46235785..46239443-chr21:46357143..46362674,8	MCF-7	breast:
7	chr21:46233435..46239577-chr21:46329843..46334353,8	MCF-7	breast:
8	chr21:46240872..46242543-chr21:46359305..46361212,2	MCF-7	breast:
9	chr21:46310744..46314052-chr21:46353302..46357037,3	K562	blood:
10	chr21:46236115..46238070-chr21:46276155..46279056,5	MCF-7	breast:
11	chr21:46235456..46240061-chr21:46274213..46277506,6	K562	blood:
12	chr21:46229150..46231758-chr21:46294546..46297296,2	MCF-7	breast:
13	chr21:46219802..46220657-chr21:46291980..46292897,2	MCF-7	breast:
14	chr21:46229937..46232595-chr21:46248336..46250833,2	MCF-7	breast:
15	chr21:46312837..46313337-chr21:46556640..46557461,2	MCF-7	breast:
16	chr21:46234824..46239565-chr21:46284858..46289652,5	K562	blood:
17	chr1:45285250..45286056-chr21:46238038..46238888,2	Hela-S3	cervix:
18	chr21:46255862..46258104-chr21:46297344..46299707,2	K562	blood:
19	chr21:46236678..46239215-chr21:46284689..46286960,3	MCF-7	breast:
20	chr21:46293553..46294470-chr21:46359794..46360468,2	Hela-S3	cervix:
21	chr21:46252951..46256726-chr21:46257556..46259832,3	K562	blood:
22	chr21:46234514..46239857-chr21:46252461..46259659,16	MCF-7	breast:
23	chr21:46300718..46303390-chr21:46325614..46327160,2	MCF-7	breast:
24	chr21:46213848..46216381-chr21:46247947..46249719,2	K562	blood:
25	chr21:46258726..46260888-chr21:46358730..46361569,2	MCF-7	breast:
26	chr21:46240414..46242423-chr21:46276915..46278463,2	MCF-7	breast:
27	chr21:46220374..46222087-chr21:46311415..46314337,2	MCF-7	breast:
28	chr21:46274377..46276734-chr21:46492349..46494888,2	K562	blood:
29	chr21:46278157..46279833-chr21:46285542..46287709,2	MCF-7	breast:
30	chr21:46253493..46258173-chr21:46289318..46293722,5	K562	blood:
31	chr21:46240542..46242357-chr21:46244714..46247520,2	MCF-7	breast:
32	chr21:46238241..46240355-chr21:46270733..46272763,2	K562	blood:
33	chr21:46249596..46252365-chr21:46286693..46288889,2	K562	blood:
34	chr21:46255059..46257410-chr21:46492878..46495780,2	K562	blood:
35	chr21:46272684..46279612-chr21:46286573..46290125,9	K562	blood:
36	chr21:46314995..46317658-chr21:46493594..46495641,2	MCF-7	breast:
37	chr21:46298853..46300793-chr21:46302963..46305695,2	MCF-7	breast:
38	chr21:46312550..46313330-chr21:46347677..46348204,2	MCF-7	breast:
39	chr21:46314850..46316608-chr21:46322131..46323890,2	K562	blood:
40	chr21:46248817..46250532-chr21:46493872..46495816,2	K562	blood:
41	chr21:46186765..46188429-chr21:46235591..46237706,2	K562	blood:
42	chr21:45929656..45931471-chr21:46289835..46291954,2	MCF-7	breast:
43	chr21:46171419..46173973-chr21:46262013..46264534,2	MCF-7	breast:
44	chr21:46234752..46239628-chr21:46345760..46349592,8	MCF-7	breast:
45	chr21:46264887..46267295-chr21:46268362..46270043,2	K562	blood:
46	chr21:46291916..46297365-chr21:46358001..46363812,14	MCF-7	breast:
47	chr19:13228183..13231183-chr21:46235955..46238098,3	K562	blood:
48	chr21:46272341..46274057-chr21:46278759..46281350,2	MCF-7	breast:
49	chr21:46251390..46253275-chr21:46253661..46255396,2	MCF-7	breast:
50	chr21:46288400..46294755-chr21:46304910..46312238,10	K562	blood:

(count:13 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM207A-7	chr21:46282799-46284149	NONHSAT082888
2	lnc-FAM207A-6	chr21:46285874-46286512	NONHSAT082889
3	lnc-FAM207A-5	chr21:46296938-46297045	NONHSAT082890
4	lnc-FAM207A-7	chr21:46281394-46282240	NONHSAT082888
5	lnc-FAM207A-5	chr21:46297141-46297447	NONHSAT082890
6	lnc-FAM207A-7	chr21:46281730-46282240	l_2234_chr21:46281729-46284126_testes
7	lnc-FAM207A-8	chr21:46269504-46270003	NONHSAT082883
8	lnc-FAM207A-4	chr21:46300858-46300934	NONHSAT082891
9	lnc-ITGB2-1	chr21:46286280-46286338	ENSG00000250713
10	lnc-ITGB2-1	chr21:46286389-46288992	ENSG00000250713
11	lnc-FAM207A-4	chr21:46301632-46301909	NONHSAT082891
12	lnc-FAM207A-6	chr21:46286563-46286594	NONHSAT082889
13	lnc-FAM207A-7	chr21:46282775-46284126	l_2234_chr21:46281729-46284126_testes

No data

(count:3 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	PTTG1IP	hsa-miR-124-3p	chr21:46269551-46269570
2	ITGB2	hsa-miR-335-5p	chr21:46306199-46306221
3	PTTG1IP	hsa-miR-124-3p	chr21:46269557-46269550

Variant related genes	Relation type
ITGB2	TF binding region
SUMO3	TF binding region
PTTG1IP	TF binding region
ITGB2	CpG island
SUMO3	CpG island
PTTG1IP	CpG island
ENSG00000202444	chromatin interactions
ENSG00000231500	chromatin interactions
ENSG00000236519	chromatin interactions
ENSG00000273027	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000100650	chromatin interactions
ENSG00000063177	chromatin interactions
ENSG00000104907	chromatin interactions
ENSG00000183250	chromatin interactions
ENSG00000063176	chromatin interactions
ENSG00000267523	chromatin interactions
ENSG00000227039	chromatin interactions
ENSG00000245322	chromatin interactions
ENSG00000269688	chromatin interactions
ENSG00000197381	chromatin interactions
ENSG00000183255	chromatin interactions
ENSG00000235890	chromatin interactions
ENSG00000007866	chromatin interactions
ENSG00000063245	chromatin interactions
ENSG00000160256	chromatin interactions
ENSG00000160255	chromatin interactions
ENSG00000235374	chromatin interactions
ENSG00000272825	chromatin interactions
ENSG00000223247	chromatin interactions
ENSG00000199568	chromatin interactions
ENSG00000142546	chromatin interactions
ENSG00000268856	chromatin interactions
ENSG00000160877	chromatin interactions
ENSG00000164032	chromatin interactions
ENSG00000184900	chromatin interactions
ENSG00000184787	chromatin interactions
GRB2	miRNA target sites
RNF138	miRNA target sites

Extended variants
information (count: 4661 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:4661 , 50 per page) page: 1 2 3 4 5 6 7 ... 94

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2329902	chr21:46227163-46227164	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs140122156	chr21:46227227-46227228	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs575363947	chr21:46227333-46227334	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs80015658	chr21:46227341-46227342	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs549030592	chr21:46227342-46227343	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs376262470	chr21:46227346-46227347	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs554557893	chr21:46227362-46227363	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs184180810	chr21:46227363-46227364	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs73232962	chr21:46227364-46227365	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs546158786	chr21:46227487-46227488	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs151325504	chr21:46227517-46227518	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs373705438	chr21:46227541-46227542	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs577859215	chr21:46227547-46227548	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs372480180	chr21:46227563-46227564	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs9984357	chr21:46227603-46227604	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs576246097	chr21:46227605-46227606	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs546325018	chr21:46227639-46227640	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs543571104	chr21:46227669-46227670	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs75760356	chr21:46227708-46227709	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs369793646	chr21:46227773-46227774	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs180313	chr21:46227798-46227799	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs530639204	chr21:46227817-46227818	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs2838693	chr21:46227872-46227873	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs59498244	chr21:46227878-46227879	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs56656758	chr21:46227987-46227988	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs145445571	chr21:46228079-46228080	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs546569403	chr21:46228080-46228081	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs559698914	chr21:46228145-46228146	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs532820884	chr21:46228156-46228157	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs550781821	chr21:46228164-46228165	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs7283639	chr21:46228165-46228166	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs188978703	chr21:46228170-46228171	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs566952879	chr21:46228187-46228188	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs533978258	chr21:46228223-46228224	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs181777960	chr21:46228224-46228225	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs528833700	chr21:46228231-46228232	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs373981386	chr21:46228242-46228243	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs141141907	chr21:46228243-46228244	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs557203970	chr21:46228244-46228245	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs575463686	chr21:46228245-46228246	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs551406761	chr21:46228255-46228256	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs57451321	chr21:46228282-46228283	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs146952863	chr21:46228285-46228286	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs528177574	chr21:46228313-46228314	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs539877522	chr21:46228336-46228337	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs564872507	chr21:46228383-46228384	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs532679665	chr21:46228416-46228417	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs187569757	chr21:46228424-46228425	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs377224734	chr21:46228434-46228435	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs530734138	chr21:46228444-46228445	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
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
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
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
small cell lung cancer	17426248	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Lymphoma	21487021	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:4062 , 50 per page) page: 1 2 3 4 5 6 7 ... 82

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46222400-46236400	Weak transcription	Small Intestine	intestine
2	chr21:46222600-46234800	Weak transcription	Right Atrium	heart
3	chr21:46222600-46236400	Weak transcription	Stomach Mucosa	stomach
4	chr21:46222600-46237200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr21:46222800-46236400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr21:46222800-46237200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr21:46223000-46230800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr21:46223000-46230800	Strong transcription	NHEK	skin
9	chr21:46223000-46232400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr21:46223000-46233600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr21:46223000-46233600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr21:46223000-46234200	Strong transcription	Placenta	Placenta
13	chr21:46223000-46236400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr21:46223000-46236400	Strong transcription	Fetal Stomach	stomach
15	chr21:46223200-46228000	Strong transcription	HSMM	muscle
16	chr21:46223200-46230000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr21:46223200-46230600	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr21:46223200-46234000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr21:46223200-46234000	Strong transcription	Stomach Smooth Muscle	stomach
20	chr21:46223200-46234000	Strong transcription	NHLF	lung
21	chr21:46223200-46235200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr21:46223200-46235800	Strong transcription	Fetal Intestine Small	intestine
23	chr21:46223400-46230400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr21:46223400-46230800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr21:46223400-46231000	Strong transcription	Brain Inferior Temporal Lobe	brain
26	chr21:46223400-46231200	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr21:46223400-46231200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr21:46223400-46233000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr21:46223400-46233800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr21:46223400-46233800	Strong transcription	Fetal Muscle Trunk	muscle
31	chr21:46223400-46234000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr21:46223400-46234000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr21:46223400-46234600	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr21:46223600-46229600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr21:46223600-46230800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr21:46223600-46231000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr21:46223600-46232400	Strong transcription	Dnd41	blood
38	chr21:46223600-46233600	Strong transcription	Osteobl	bone
39	chr21:46223600-46234200	Strong transcription	Fetal Intestine Large	intestine
40	chr21:46223600-46235000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr21:46223800-46227600	Strong transcription	Colon Smooth Muscle	Colon
42	chr21:46223800-46230800	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr21:46223800-46232600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr21:46223800-46234000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr21:46223800-46234200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr21:46223800-46234600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr21:46223800-46235600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr21:46224000-46229400	Strong transcription	Hela-S3	cervix
49	chr21:46224000-46230800	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr21:46224000-46234400	Strong transcription	Primary monocytes fromperipheralblood	blood

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