Variant report

Variant	esv1829973
Chromosome Location	chr3:20192578-20375260
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1614)
CpG islands
(count:1283)
Chromatin interactive
region (count:133)
LncRNA
region (count:13)
Mature miRNA
region (count: 0)
miRNA target
sites (count:14)

(count:1614 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:20368591-20368761	K562	blood:	n/a	n/a
2	ARID3A	chr3:20227487-20228388	HepG2	liver:	n/a	n/a
3	ARID3A	chr3:20267278-20267600	K562	blood:	n/a	n/a
4	ARID3A	chr3:20362800-20363279	K562	blood:	n/a	n/a
5	ARID3A	chr3:20363620-20364094	K562	blood:	n/a	chr3:20363734-20363750
6	ARID3A	chr3:20364750-20365312	K562	blood:	n/a	n/a
7	ARID3A	chr3:20227329-20228186	K562	blood:	n/a	n/a
8	ARID3A	chr3:20361861-20362463	HepG2	liver:	n/a	n/a
9	ARID3A	chr3:20366598-20367214	K562	blood:	n/a	n/a
10	ARID3A	chr3:20371522-20371864	K562	blood:	n/a	n/a
11	ATF1	chr3:20346503-20346616	K562	blood:	n/a	n/a
12	ATF1	chr3:20226994-20228147	K562	blood:	n/a	n/a
13	ATF1	chr3:20364790-20365451	K562	blood:	n/a	n/a
14	ATF1	chr3:20366606-20366910	K562	blood:	n/a	n/a
15	ATF2	chr3:20288131-20288515	GM12878	blood:	n/a	n/a
16	ATF2	chr3:20227637-20228238	GM12878	blood:	n/a	n/a
17	ATF2	chr3:20288074-20288600	GM12878	blood:	n/a	n/a
18	ATF2	chr3:20227207-20228211	GM12878	blood:	n/a	n/a
19	ATF3	chr3:20227425-20228037	HepG2	liver:	n/a	n/a
20	ATF3	chr3:20227448-20228043	H1-hESC	embryonic stem cell:	n/a	n/a
21	ATF3	chr3:20227535-20227966	K562	blood:	n/a	n/a
22	ATF3	chr3:20227585-20227975	K562	blood:	n/a	n/a
23	ATF3	chr3:20227605-20227903	HepG2	liver:	n/a	n/a
24	ATF3	chr3:20227505-20227918	H1-hESC	embryonic stem cell:	n/a	n/a
25	ATF3	chr3:20227575-20227873	GM12878	blood:	n/a	n/a
26	ATF3	chr3:20227527-20228058	GM12878	blood:	n/a	n/a
27	BACH1	chr3:20197358-20197428	K562	blood:	n/a	n/a
28	BACH1	chr3:20363669-20363903	K562	blood:	n/a	n/a
29	BACH1	chr3:20366536-20366578	K562	blood:	n/a	n/a
30	BATF	chr3:20277377-20277645	GM12878	blood:	n/a	n/a
31	BATF	chr3:20288183-20288438	GM12878	blood:	n/a	chr3:20288290-20288301
32	BATF	chr3:20277379-20277647	GM12878	blood:	n/a	n/a
33	BATF	chr3:20288158-20288422	GM12878	blood:	n/a	chr3:20288290-20288301
34	BCL11A	chr3:20288232-20288418	GM12878	blood:	n/a	n/a
35	BCL11A	chr3:20263779-20264109	H1-hESC	embryonic stem cell:	n/a	n/a
36	BCL11A	chr3:20288193-20288461	GM12878	blood:	n/a	n/a
37	BCL11A	chr3:20263785-20264058	H1-hESC	embryonic stem cell:	n/a	n/a
38	BCL11A	chr3:20371437-20371693	H1-hESC	embryonic stem cell:	n/a	n/a
39	BCL3	chr3:20227304-20227885	A549	lung:	n/a	n/a
40	BCLAF1	chr3:20227123-20228281	GM12878	blood:	n/a	n/a
41	BCLAF1	chr3:20227146-20228169	GM12878	blood:	n/a	n/a
42	BHLHE40	chr3:20366210-20366396	K562	blood:	n/a	n/a
43	BHLHE40	chr3:20227167-20228366	GM12878	blood:	n/a	n/a
44	BHLHE40	chr3:20361903-20362390	HepG2	liver:	n/a	n/a
45	BHLHE40	chr3:20306641-20306956	K562	blood:	n/a	n/a
46	BHLHE40	chr3:20364697-20365365	K562	blood:	n/a	n/a
47	BHLHE40	chr3:20355407-20355580	A549	lung:	n/a	n/a
48	BHLHE40	chr3:20227454-20228139	HepG2	liver:	n/a	n/a
49	BHLHE40	chr3:20227627-20227958	A549	lung:	n/a	n/a
50	BHLHE40	chr3:20226943-20228838	K562	blood:	n/a	n/a

(count:1283 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:20321584-20321634	NB4	blood:	n/a
2	chr3:20195067-20195117	K562	blood:	n/a
3	chr3:20321584-20321634	NB4	blood:	n/a
4	chr3:20195067-20195117	K562	blood:	n/a
5	chr3:20321584-20321634	Hepatocyte	liver:	n/a
6	chr3:20226964-20227014	LNCaP	prostate:	n/a
7	chr3:20227925-20227975	AG04449	skin:	fetal
8	chr3:20227940-20227990	SK-N-SH	brain:	n/a
9	chr3:20226994-20227044	BJ	skin:	n/a
10	chr3:20321584-20321634	SAEC	small airway:	n/a
11	chr3:20223923-20223973	HCM	heart:	n/a
12	chr3:20227059-20227109	PANC-1	pancreas:	n/a
13	chr3:20228976-20229026	HCT-116	colon:	n/a
14	chr3:20227925-20227975	ECC-1	luminal epithelium:	n/a
15	chr3:20227516-20227566	PANC-1	pancreas:	n/a
16	chr3:20202403-20202453	T-47D	breast:	n/a
17	chr3:20227801-20227851	AG04450	lung:	fetal
18	chr3:20227789-20227839	AG09309	skin:	n/a
19	chr3:20321584-20321634	SKMC	muscle:	n/a
20	chr3:20227516-20227566	PFSK-1	brain:	n/a
21	chr3:20227516-20227566	HCT-116	colon:	n/a
22	chr3:20223923-20223973	HRPEpiC	eye:	n/a
23	chr3:20228976-20229026	T-47D	breast:	n/a
24	chr3:20202403-20202453	NHDF-neo	bronchial:	n/a
25	chr3:20227059-20227109	MCF10A-Er-Src	breast:	n/a
26	chr3:20228976-20229026	GM06990	blood:	n/a
27	chr3:20227940-20227990	AoSMC	blood vessel:	n/a
28	chr3:20227789-20227839	HUVEC	blood vessel:	n/a
29	chr3:20195067-20195117	HRCEpiC	kidney:	n/a
30	chr3:20227397-20227447	NT2-D1	testis:	n/a
31	chr3:20227397-20227447	ovcar-3	ovarian:	n/a
32	chr3:20226994-20227044	HRE	kidney:	n/a
33	chr3:20321584-20321634	HRPEpiC	eye:	n/a
34	chr3:20195067-20195117	Hepatocyte	liver:	n/a
35	chr3:20371290-20371340	HRE	kidney:	n/a
36	chr3:20227822-20227872	GM12891	blood:	n/a
37	chr3:20227809-20227859	CMK	blood:	n/a
38	chr3:20227670-20227720	HEEpiC	esophagus:	n/a
39	chr3:20227059-20227109	Hela-S3	cervix:	n/a
40	chr3:20228976-20229026	SK-N-SH_RA	brain:	n/a
41	chr3:20227516-20227566	AoSMC	blood vessel:	n/a
42	chr3:20227516-20227566	HPAEpiC	pulmonary alveolar:	n/a
43	chr3:20227789-20227839	HL-60	blood:	n/a
44	chr3:20195067-20195117	AG04450	lung:	fetal
45	chr3:20227940-20227990	Hepatocyte	liver:	n/a
46	chr3:20227670-20227720	Jurkat	blood:	n/a
47	chr3:20195067-20195117	GM12892	blood:	n/a
48	chr3:20371290-20371340	HCM	heart:	n/a
49	chr3:20227091-20227141	HCF	heart:	n/a
50	chr3:20227940-20227990	ovcar-3	ovarian:	n/a

(count:133 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr3:20225377..20229978-chr3:20232761..20235716,5	K562	blood:
2	chr3:20226448..20228980-chr3:20231144..20234755,4	MCF-7	breast:
3	chr3:20079527..20082964-chr3:20226742..20229620,4	K562	blood:
4	chr3:20316601..20319465-chr3:20319672..20321888,2	K562	blood:
5	chr3:19987980..19990853-chr3:20225710..20227616,2	MCF-7	breast:
6	chr3:20363426..20365605-chr3:20367558..20369154,2	K562	blood:
7	chr3:20358544..20361265-chr3:20365566..20368705,3	K562	blood:
8	chr3:20215671..20219222-chr3:20225067..20228168,4	MCF-7	breast:
9	chr3:20335611..20337962-chr3:20339317..20341435,2	K562	blood:
10	chr3:20369262..20370826-chr3:20371574..20373222,2	K562	blood:
11	chr3:20199507..20201505-chr3:20225585..20228159,2	MCF-7	breast:
12	chr3:20200366..20203372-chr3:20209857..20212107,3	K562	blood:
13	chr3:20239141..20242093-chr3:20243237..20245367,3	K562	blood:
14	chr3:20223638..20225446-chr3:20225885..20227918,2	MCF-7	breast:
15	chr3:19987774..19989392-chr3:20231819..20233380,2	MCF-7	breast:
16	chr3:20218894..20221253-chr3:20226177..20229116,2	MCF-7	breast:
17	chr3:20333199..20337962-chr3:20339317..20343120,4	K562	blood:
18	chr3:20365682..20367813-chr3:20369993..20373801,3	K562	blood:
19	chr3:20200366..20203372-chr3:20209857..20212107,3	K562	blood:
20	chr3:20320265..20323041-chr3:20324824..20326695,2	K562	blood:
21	chr3:20209340..20212001-chr3:20214407..20216140,2	K562	blood:
22	chr3:20255206..20257186-chr3:20272224..20273896,2	K562	blood:
23	chr3:20361855..20364563-chr3:20364654..20366618,2	K562	blood:
24	chr3:20226448..20228980-chr3:20231144..20234755,4	MCF-7	breast:
25	chr3:20201533..20203572-chr3:20204589..20206739,2	K562	blood:
26	chr3:20370553..20372483-chr3:20373507..20376475,2	K562	blood:
27	chr3:20227831..20229515-chr3:20229924..20231692,2	MCF-7	breast:
28	chr3:20225377..20229978-chr3:20232761..20235716,5	K562	blood:
29	chr3:20248922..20251335-chr3:20323167..20325698,2	K562	blood:
30	chr3:20079993..20081743-chr3:20205055..20207823,2	MCF-7	breast:
31	chr3:20188934..20192869-chr3:20226143..20228338,3	MCF-7	breast:
32	chr1:211431812..211432720-chr3:20227589..20228353,2	Hela-S3	cervix:
33	chr3:20344022..20346742-chr3:20354498..20357355,2	K562	blood:
34	chr3:20352341..20352841-chr6:144261197..144261734,2	MCF-7	breast:
35	chr3:20240283..20242142-chr3:20254913..20256935,2	K562	blood:
36	chr3:20364762..20367629-chr3:20378813..20381206,2	K562	blood:
37	chr3:20216479..20218064-chr3:20218704..20221260,2	K562	blood:
38	chr15:42565172..42565968-chr3:20227231..20227766,2	Hela-S3	cervix:
39	chr3:20329415..20331770-chr3:20333391..20336112,2	K562	blood:
40	chr3:20267223..20267887-chr3:21592292..21593221,2	MCF-7	breast:
41	chr3:20215671..20219222-chr3:20225067..20228168,4	MCF-7	breast:
42	chr3:20211282..20213997-chr3:20225429..20228054,3	MCF-7	breast:
43	chr3:20177373..20179838-chr3:20195136..20197383,2	K562	blood:
44	chr3:20240283..20242142-chr3:20254913..20256935,2	K562	blood:
45	chr3:20361855..20364563-chr3:20364654..20366618,2	K562	blood:
46	chr3:20227831..20229515-chr3:20229924..20231692,2	MCF-7	breast:
47	chr3:19987690..19991206-chr3:20220694..20223940,3	MCF-7	breast:
48	chr3:20219250..20222131-chr3:20228592..20230370,2	K562	blood:
49	chr3:20208211..20212087-chr3:20224920..20227676,5	K562	blood:
50	chr3:20094893..20096727-chr3:20227964..20230863,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KAT2B-1	chr3:20227726-20230848	NONHSAT088617
2	lnc-KAT2B-1	chr3:20215736-20216017	ENSG00000237485.1
3	lnc-KAT2B-1	chr3:20216227-20216310	ENSG00000237485.1
4	lnc-KAT2B-1	chr3:20215778-20216017	ENSG00000237485.1
5	lnc-KAT2B-1	chr3:20216227-20216310	ENSG00000237485.1
6	lnc-KAT2B-5	chr3:20210846-20210905	l_2328_chr3:20202875-20210905_testes
7	lnc-KAT2B-6	chr3:20286533-20287951	NONHSAT088619
8	lnc-KAT2B-1	chr3:20218709-20218742	ENSG00000237485.1
9	lnc-KAT2B-1	chr3:20227467-20227607	ENSG00000237485.1
10	lnc-PP2D1-2	chr3:20211553-20212307	NONHSAT088614
11	lnc-KAT2B-5	chr3:20202876-20203154	l_2328_chr3:20202875-20210905_testes
12	lnc-PP2D1-2	chr3:20212535-20212759	NONHSAT088614
13	lnc-KAT2B-1	chr3:20227467-20227919	ENSG00000237485.1

No data

(count:14 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	KAT2B	hsa-miR-93-5p	chr3:20194137-20194143
2	KAT2B	hsa-miR-181b-5p	chr3:20194367-20194390
3	KAT2B	hsa-miR-92a-3p	chr3:20195765-20195772
4	KAT2B	hsa-miR-25-3p	chr3:20195765-20195772
5	KAT2B	hsa-miR-32-5p	chr3:20195750-20195772
6	KAT2B	hsa-miR-32-5p	chr3:20195765-20195772
7	KAT2B	hsa-miR-92a-3p	chr3:20195750-20195772
8	KAT2B	hsa-miR-106b-5p	chr3:20194137-20194143
9	KAT2B	hsa-miR-25-3p	chr3:20195750-20195772
10	KAT2B	hsa-miR-106b-5p	chr3:20194123-20194144
11	KAT2B	hsa-miR-93-5p	chr3:20194121-20194144
12	KAT2B	hsa-miR-181a-5p	chr3:20194367-20194390
13	KAT2B	hsa-miR-93-5p	chr3:20195701-20195723
14	KAT2B	hsa-miR-106b-5p	chr3:20195703-20195723

Variant related genes	Relation type
RNU6-822P	TF binding region
RNY4P22	TF binding region
SGOL1-AS1	TF binding region
SGOL1	TF binding region
RNU6-822P	CpG island
RNY4P22	CpG island
SGOL1-AS1	CpG island
SGOL1	CpG island
ENSG00000234779	chromatin interactions
ENSG00000103978	chromatin interactions
ENSG00000126226	chromatin interactions
ENSG00000158158	chromatin interactions
ENSG00000129810	chromatin interactions
ENSG00000163576	chromatin interactions
ENSG00000117625	chromatin interactions
ENSG00000237485	chromatin interactions
ENSG00000266745	chromatin interactions
ENSG00000144566	chromatin interactions
ENSG00000114166	chromatin interactions
ENSG00000252442	chromatin interactions
ENSG00000214013	chromatin interactions
ENSG00000201699	chromatin interactions
ENSG00000229468	chromatin interactions

Extended variants
information (count: 6534 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:6534 , 50 per page) page: 1 2 3 4 5 6 7 ... 131

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2068477	chr3:20192578-20192579	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs570406228	chr3:20192589-20192590	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs78456400	chr3:20192653-20192654	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs77606263	chr3:20192659-20192660	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs3804572	chr3:20192686-20192687	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs538691872	chr3:20192693-20192694	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs2068668	chr3:20192701-20192702	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs138419307	chr3:20192719-20192720	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs17678713	chr3:20192769-20192770	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs3804573	chr3:20192790-20192791	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs9853877	chr3:20192796-20192797	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs3804574	chr3:20192814-20192815	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs149248564	chr3:20192821-20192822	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs146177661	chr3:20192830-20192831	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs185973596	chr3:20192847-20192848	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs559934245	chr3:20192856-20192857	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs3804575	chr3:20192864-20192865	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs190580495	chr3:20192902-20192903	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs570070130	chr3:20192905-20192906	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs573463120	chr3:20192927-20192928	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs200909539	chr3:20192932-20192933	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561500733	chr3:20192935-20192936	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs57662568	chr3:20192945-20192946	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs575183889	chr3:20192951-20192952	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571008139	chr3:20193020-20193021	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs143894331	chr3:20193045-20193046	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs553445964	chr3:20193049-20193050	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs190772077	chr3:20193050-20193051	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs9878045	chr3:20193100-20193101	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs371207195	chr3:20193102-20193103	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs146376210	chr3:20193106-20193107	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs183012523	chr3:20193110-20193111	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs575964563	chr3:20193112-20193113	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs114297877	chr3:20193162-20193163	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs558607224	chr3:20193197-20193198	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs112636950	chr3:20193260-20193261	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs543496960	chr3:20193267-20193268	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs541270175	chr3:20193278-20193279	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs559600149	chr3:20193336-20193337	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs559061744	chr3:20193344-20193345	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs530172139	chr3:20193358-20193359	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs149170272	chr3:20193412-20193413	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs576873050	chr3:20193464-20193465	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs542366737	chr3:20193468-20193469	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs564036965	chr3:20193479-20193480	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs148562347	chr3:20193485-20193486	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs559415186	chr3:20193487-20193488	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs528370030	chr3:20193495-20193496	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs530842210	chr3:20193497-20193498	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs552810537	chr3:20193505-20193506	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Developmental delay	21147756	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Ovarian cancer	21781307	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:1334 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:20116400-20194800	Weak transcription	NHDF-Ad	bronchial
2	chr3:20141200-20222400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:20147600-20194200	Weak transcription	Dnd41	blood
4	chr3:20151000-20196800	Weak transcription	Stomach Mucosa	stomach
5	chr3:20159200-20201400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:20162800-20198200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr3:20164400-20204400	Weak transcription	Small Intestine	intestine
8	chr3:20164800-20211400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr3:20167800-20196600	Weak transcription	K562	blood
10	chr3:20167800-20226000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr3:20168800-20200800	Weak transcription	GM12878-XiMat	blood
12	chr3:20169600-20198400	Weak transcription	Aorta	Aorta
13	chr3:20169600-20198400	Weak transcription	Pancreas	Pancrea
14	chr3:20169800-20201600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr3:20169800-20202000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr3:20175800-20196800	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr3:20177800-20195200	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr3:20178200-20195200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr3:20179000-20196400	Weak transcription	HUVEC	blood vessel
20	chr3:20179400-20197600	Weak transcription	Right Atrium	heart
21	chr3:20181400-20195600	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr3:20181800-20200200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr3:20182400-20195200	Strong transcription	Primary B cells from peripheral blood	blood
24	chr3:20182400-20196400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr3:20182600-20201400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr3:20182800-20198000	Weak transcription	Ovary	ovary
27	chr3:20183200-20192800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr3:20183600-20201000	Weak transcription	Fetal Muscle Trunk	muscle
29	chr3:20183800-20193000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr3:20183800-20196000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:20183800-20196000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr3:20183800-20196400	Weak transcription	Fetal Intestine Small	intestine
33	chr3:20183800-20196800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr3:20183800-20198000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr3:20183800-20198400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr3:20183800-20199600	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr3:20183800-20199600	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr3:20184000-20196400	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr3:20184000-20198000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr3:20184200-20196400	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr3:20184400-20196000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr3:20184400-20197800	Weak transcription	Lung	lung
43	chr3:20184400-20198000	Weak transcription	Right Ventricle	heart
44	chr3:20184400-20198400	Weak transcription	Spleen	Spleen
45	chr3:20184400-20198600	Weak transcription	Brain Hippocampus Middle	brain
46	chr3:20184400-20199000	Weak transcription	Esophagus	oesophagus
47	chr3:20184600-20220200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr3:20184800-20196400	Weak transcription	Gastric	stomach
49	chr3:20186400-20195600	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr3:20187400-20195200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

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