Variant report

Variant	esv3323398
Chromosome Location	chr3:49053998-49056796
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:510)
CpG islands
(count:550)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:510 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr3:49055565-49056156	K562	blood:	n/a	n/a
2	ATF2	chr3:49054257-49055122	GM12878	blood:	n/a	n/a
3	ATF2	chr3:49055331-49056490	GM12878	blood:	n/a	n/a
4	ATF3	chr3:49055542-49055888	A549	lung:	n/a	n/a
5	ATF3	chr3:49055684-49055991	K562	blood:	n/a	n/a
6	BACH1	chr3:49055489-49055579	K562	blood:	n/a	n/a
7	BACH1	chr3:49055290-49056261	H1-hESC	embryonic stem cell:	n/a	n/a
8	BCL3	chr3:49055131-49056408	A549	lung:	n/a	n/a
9	BCL3	chr3:49053691-49054209	A549	lung:	n/a	n/a
10	BCL3	chr3:49055112-49056202	A549	lung:	n/a	n/a
11	BCL3	chr3:49055090-49056380	GM12878	blood:	n/a	n/a
12	BCL3	chr3:49053621-49054753	A549	lung:	n/a	n/a
13	BCLAF1	chr3:49055610-49056404	GM12878	blood:	n/a	n/a
14	BHLHE40	chr3:49055679-49056015	K562	blood:	n/a	n/a
15	BHLHE40	chr3:49055023-49055445	K562	blood:	n/a	n/a
16	BHLHE40	chr3:49055826-49056173	GM12878	blood:	n/a	n/a
17	BRCA1	chr3:49055761-49055823	HepG2	liver:	n/a	n/a
18	BRCA1	chr3:49055969-49056108	Hela-S3	cervix:	n/a	n/a
19	CBX3	chr3:49055616-49056062	K562	blood:	n/a	n/a
20	CCNT2	chr3:49055151-49056333	K562	blood:	n/a	n/a
21	CEBPB	chr3:49055496-49055593	Hela-S3	cervix:	n/a	n/a
22	CEBPD	chr3:49055617-49056312	HepG2	liver:	n/a	n/a
23	CHD1	chr3:49055806-49056017	GM12878	blood:	n/a	n/a
24	CHD2	chr3:49055782-49056200	GM12878	blood:	n/a	n/a
25	CHD2	chr3:49054311-49054443	K562	blood:	n/a	n/a
26	CHD2	chr3:49055817-49056184	Hela-S3	cervix:	n/a	n/a
27	CHD2	chr3:49055813-49055913	H1-hESC	embryonic stem cell:	n/a	n/a
28	CHD2	chr3:49055256-49055536	Hela-S3	cervix:	n/a	n/a
29	CHD2	chr3:49055738-49055923	K562	blood:	n/a	n/a
30	CREB1	chr3:49055377-49056181	K562	blood:	n/a	n/a
31	CREB1	chr3:49055675-49055974	A549	lung:	n/a	n/a
32	CREB1	chr3:49054822-49056333	GM12878	blood:	n/a	n/a
33	CREB1	chr3:49055368-49056257	A549	lung:	n/a	n/a
34	CREB1	chr3:49055596-49056136	ECC-1	luminal epithelium:	n/a	n/a
35	CREB1	chr3:49054880-49056405	HepG2	liver:	n/a	n/a
36	CREB1	chr3:49055337-49056284	HepG2	liver:	n/a	n/a
37	CREB1	chr3:49055193-49056312	K562	blood:	n/a	n/a
38	CREB1	chr3:49055315-49056282	H1-hESC	embryonic stem cell:	n/a	n/a
39	CREB1	chr3:49055596-49056237	ECC-1	luminal epithelium:	n/a	n/a
40	CREB1	chr3:49055383-49056333	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr3:49056111-49056112	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr3:49055408-49055454	GM10248	blood:	n/a	n/a
43	CTCF	chr3:49055640-49055790	NHEK	skin:	n/a	n/a
44	CTCF	chr3:49056126-49056132	GM19238	blood:	n/a	n/a
45	CTCF	chr3:49056017-49056085	K562	blood:	n/a	n/a
46	CTCF	chr3:49055420-49055570	GM12870	blood:	n/a	n/a
47	CTCF	chr3:49056117-49056123	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr3:49055514-49055577	MCF-7	breast:	n/a	n/a
49	CTCF	chr3:49055380-49055530	HUVEC	blood vessel:	n/a	n/a
50	CTCF	chr3:49056060-49056210	Caco-2	colon:	n/a	n/a

(count:550 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:49056096-49056146	SK-N-MC	brain:	n/a
2	chr3:49056096-49056146	SK-N-MC	brain:	n/a
3	chr3:49055321-49055371	H1-hESC	embryonic stem cell:	embryo
4	chr3:49054887-49054937	SK-N-SH	brain:	n/a
5	chr3:49056208-49056258	MCF10A-Er-Src	breast:	n/a
6	chr3:49056208-49056258	MCF-7	breast:	n/a
7	chr3:49056208-49056258	HRE	kidney:	n/a
8	chr3:49056086-49056136	SK-N-SH	brain:	n/a
9	chr3:49056273-49056323	HEK293	kidney:	embryo
10	chr3:49056086-49056136	HPAEpiC	pulmonary alveolar:	n/a
11	chr3:49056208-49056258	BE2_C	brain:	n/a
12	chr3:49056168-49056218	HMEC	breast:	n/a
13	chr3:49056140-49056190	GM19239	blood:	n/a
14	chr3:49056096-49056146	Jurkat	blood:	n/a
15	chr3:49054887-49054937	HRCEpiC	kidney:	n/a
16	chr3:49056208-49056258	HPAEpiC	pulmonary alveolar:	n/a
17	chr3:49056168-49056218	PANC-1	pancreas:	n/a
18	chr3:49056140-49056190	A549	lung:	n/a
19	chr3:49056140-49056190	AG09319	gingival:	n/a
20	chr3:49056140-49056190	HCT-116	colon:	n/a
21	chr3:49056420-49056470	BJ	skin:	n/a
22	chr3:49056096-49056146	Hela-S3	cervix:	n/a
23	chr3:49056086-49056136	BJ	skin:	n/a
24	chr3:49055321-49055371	MCF-7	breast:	n/a
25	chr3:49056273-49056323	GM12891	blood:	n/a
26	chr3:49056208-49056258	A549	lung:	n/a
27	chr3:49056140-49056190	NB4	blood:	n/a
28	chr3:49056273-49056323	Caco-2	colon:	n/a
29	chr3:49054887-49054937	AoSMC	blood vessel:	n/a
30	chr3:49056208-49056258	AG04449	skin:	fetal
31	chr3:49056208-49056258	IMR90	lung:	fetal
32	chr3:49056140-49056190	HL-60	blood:	n/a
33	chr3:49056168-49056218	Hepatocyte	liver:	n/a
34	chr3:49056168-49056218	HPAEpiC	pulmonary alveolar:	n/a
35	chr3:49056140-49056190	AG09309	skin:	n/a
36	chr3:49056420-49056470	NB4	blood:	n/a
37	chr3:49054887-49054937	HRE	kidney:	n/a
38	chr3:49054887-49054937	BJ	skin:	n/a
39	chr3:49056420-49056470	BE2_C	brain:	n/a
40	chr3:49056168-49056218	HCF	heart:	n/a
41	chr3:49056208-49056258	HIPEpiC	eye:	n/a
42	chr3:49056168-49056218	MCF10A-Er-Src	breast:	n/a
43	chr3:49054887-49054937	ovcar-3	ovarian:	n/a
44	chr3:49056086-49056136	ProgFib	skin:	n/a
45	chr3:49056273-49056323	AG10803	skin:	n/a
46	chr3:49056140-49056190	SK-N-SH_RA	brain:	n/a
47	chr3:49056208-49056258	HEEpiC	esophagus:	n/a
48	chr3:49056140-49056190	NH-A	brain:	n/a
49	chr3:49056140-49056190	IMR90	lung:	fetal
50	chr3:49054887-49054937	HIPEpiC	eye:	n/a

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:49056273..49062188-chr3:49155312..49159947,7	K562	blood:
2	chr19:2236080..2236926-chr3:49055246..49055917,2	HCT-116	colon:
3	chr14:105265057..105267677-chr3:49054198..49056753,2	MCF-7	breast:
4	chr3:49050440..49054790-chr3:49130798..49133846,4	MCF-7	breast:
5	chr11:20409291..20409979-chr3:49055367..49056087,2	HCT-116	colon:
6	chr3:49055528..49056300-chr4:103422455..103423039,2	HCT-116	colon:
7	chr3:49056423..49060378-chr3:49506507..49510634,4	K562	blood:
8	chr3:48720679..48723641-chr3:49054826..49057455,2	K562	blood:
9	chr3:49056328..49059544-chr3:49202143..49205448,5	MCF-7	breast:
10	chr20:62151892..62152418-chr3:49055180..49055966,2	Hela-S3	cervix:
11	chr3:48699840..48702093-chr3:49056482..49059004,2	MCF-7	breast:
12	chr17:59477208..59478963-chr3:49056192..49059072,2	MCF-7	breast:
13	chr20:49347122..49349169-chr3:49056321..49059202,2	MCF-7	breast:
14	chr3:49055428..49056396-chr7:32931996..32932598,2	Hela-S3	cervix:
15	chr3:49052218..49068794-chr3:49126865..49133927,44	K562	blood:
16	chr3:49055813..49060111-chr3:49166990..49172599,7	MCF-7	breast:
17	chr3:49055445..49060745-chr3:49128874..49135153,17	MCF-7	breast:
18	chr3:49054710..49056578-chr3:49447542..49450495,2	K562	blood:
19	chr3:49054288..49061452-chr3:49128946..49133927,24	K562	blood:
20	chr10:8091409..8094232-chr3:49056208..49058012,2	MCF-7	breast:
21	chr3:49056021..49057795-chr3:49157491..49159420,2	MCF-7	breast:
22	chr3:49056708..49059801-chr3:49129963..49133658,5	MCF-7	breast:
23	chr3:49052737..49055601-chr3:49169653..49171785,2	MCF-7	breast:

No data

Variant related genes	Relation type
NDUFAF3	TF binding region
DALRD3	TF binding region
NDUFAF3	CpG island
DALRD3	CpG island
ENSG00000179627	chromatin interactions
ENSG00000124171	chromatin interactions
ENSG00000008300	chromatin interactions
ENSG00000104897	chromatin interactions
ENSG00000172037	chromatin interactions
ENSG00000185238	chromatin interactions
ENSG00000213672	chromatin interactions
ENSG00000121068	chromatin interactions
ENSG00000067560	chromatin interactions
ENSG00000170852	chromatin interactions
ENSG00000232638	chromatin interactions
ENSG00000228350	chromatin interactions
ENSG00000125534	chromatin interactions
ENSG00000172046	chromatin interactions
ENSG00000198218	chromatin interactions
ENSG00000172053	chromatin interactions
ENSG00000109320	chromatin interactions
ENSG00000173402	chromatin interactions
ENSG00000260651	chromatin interactions
ENSG00000104886	chromatin interactions
ENSG00000177352	chromatin interactions
ENSG00000267131	chromatin interactions
ENSG00000145022	chromatin interactions

Extended variants
information (count: 124 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199627545	chr3:49054008-49054009	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs561169716	chr3:49054016-49054017	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs575526933	chr3:49054032-49054033	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs202087735	chr3:49054042-49054043	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs367655503	chr3:49054057-49054058	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs372925729	chr3:49054065-49054066	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs550071849	chr3:49054099-49054100	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs139323774	chr3:49054100-49054101	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs202179688	chr3:49054102-49054103	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs368501664	chr3:49054118-49054119	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs532179385	chr3:49054148-49054149	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs200954716	chr3:49054200-49054201	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs371893230	chr3:49054204-49054205	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs139901939	chr3:49054208-49054209	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs151003537	chr3:49054217-49054218	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs200110761	chr3:49054233-49054234	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs565800639	chr3:49054283-49054284	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs536329823	chr3:49054287-49054288	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs71324930	chr3:49054316-49054317	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs147920010	chr3:49054391-49054392	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs117397023	chr3:49054472-49054473	Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs116387040	chr3:49054485-49054486	Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs577055965	chr3:49054533-49054534	Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs201405770	chr3:49054545-49054546	Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs545421654	chr3:49054561-49054562	Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs141235269	chr3:49054576-49054577	Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs572081922	chr3:49054595-49054596	Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs542729427	chr3:49054641-49054642	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs561007298	chr3:49054645-49054646	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs201973084	chr3:49054653-49054654	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs543651268	chr3:49054660-49054661	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs369321136	chr3:49054675-49054676	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs3087866	chr3:49054692-49054693	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs371580830	chr3:49054693-49054694	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs201805627	chr3:49054709-49054710	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs374828461	chr3:49054729-49054730	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs367838171	chr3:49054754-49054755	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs116136042	chr3:49054758-49054759	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs547396126	chr3:49054762-49054763	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs199726141	chr3:49054768-49054769	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs373926581	chr3:49054802-49054803	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs200198312	chr3:49054803-49054804	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs186431236	chr3:49054826-49054827	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs529678400	chr3:49054875-49054876	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs200991249	chr3:49054888-49054889	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs201167524	chr3:49054892-49054893	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs369843729	chr3:49054893-49054894	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs200180016	chr3:49054930-49054931	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs374219777	chr3:49054949-49054950	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs377632520	chr3:49054983-49054984	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
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
Glioblastoma multiforme	21080181	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
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Kartagener syndrome	16639409	CNVD
Biliary cancer	19435499	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute myeloid leukemia	17268525	CNVD
Salivary gland tumor	18059337	CNVD
Gastric cancer	16891809	CNVD
Night blindness	17160897	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Lung cancer	17297452	CNVD
Multiple myeloma	16616336	CNVD
Effusion lymphoma	18079361	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Urothelial cell carcinoma	18451213	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Melanoma	17363583	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medullary thyroid carcinoma	18765511	CNVD
abnormal development	18461090	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:696 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49045800-49055000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:49046200-49054400	Strong transcription	Fetal Stomach	stomach
3	chr3:49046200-49054600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr3:49046200-49054600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr3:49046200-49054800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr3:49046400-49054200	Strong transcription	Fetal Intestine Small	intestine
7	chr3:49046600-49054200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr3:49046800-49054200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr3:49046800-49054400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr3:49047000-49054200	Strong transcription	Cortex derived primary cultured neurospheres	brain
11	chr3:49047600-49054800	Strong transcription	Lung	lung
12	chr3:49048400-49054400	Strong transcription	Fetal Intestine Large	intestine
13	chr3:49048400-49054600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:49048600-49054400	Strong transcription	Thymus	Thymus
15	chr3:49048800-49054000	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr3:49048800-49054000	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr3:49048800-49054000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
18	chr3:49048800-49054000	Strong transcription	Primary B cells from cord blood	blood
19	chr3:49048800-49054000	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr3:49048800-49054200	Strong transcription	H1 Cell Line	embryonic stem cell
21	chr3:49048800-49054200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr3:49048800-49054200	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr3:49048800-49054200	Strong transcription	Primary B cells from peripheral blood	blood
24	chr3:49048800-49054200	Strong transcription	Primary T cells from cord blood	blood
25	chr3:49048800-49054200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr3:49048800-49054200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr3:49048800-49054400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr3:49048800-49054400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr3:49048800-49054400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr3:49048800-49054400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr3:49048800-49054600	Strong transcription	Fetal Brain Female	brain
32	chr3:49048800-49054600	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr3:49048800-49054800	Strong transcription	Brain Cingulate Gyrus	brain
34	chr3:49049000-49054000	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr3:49049000-49054000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr3:49049000-49054000	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr3:49049000-49054200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr3:49049000-49054200	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr3:49049000-49054200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr3:49049000-49054200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr3:49049000-49054200	Strong transcription	A549	lung
42	chr3:49049000-49054400	Strong transcription	Adipose Nuclei	Adipose
43	chr3:49049000-49054400	Strong transcription	Liver	Liver
44	chr3:49049000-49054400	Strong transcription	Brain Angular Gyrus	brain
45	chr3:49049000-49054400	Strong transcription	HepG2	liver
46	chr3:49049000-49054400	Strong transcription	NHLF	lung
47	chr3:49049000-49054600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr3:49049000-49054600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr3:49049000-49054600	Strong transcription	Brain Anterior Caudate	brain
50	chr3:49049000-49054600	Strong transcription	Brain Hippocampus Middle	brain

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