Variant report

Variant	esv3405551
Chromosome Location	chr3:51989162-51991160
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:283)
CpG islands
(count:428)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:283 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr3:51989641-51990152	H1-hESC	embryonic stem cell:	n/a	n/a
2	BRCA1	chr3:51990580-51990833	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr3:51989325-51989488	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr3:51989361-51989521	H1-hESC	embryonic stem cell:	n/a	n/a
5	CHD2	chr3:51989831-51990204	H1-hESC	embryonic stem cell:	n/a	n/a
6	CREB1	chr3:51989457-51990202	H1-hESC	embryonic stem cell:	n/a	n/a
7	CREB1	chr3:51989486-51990093	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTBP2	chr3:51989299-51991209	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr3:51990580-51990730	RPTEC	kidney:	n/a	n/a
10	CTCF	chr3:51990200-51990350	GM12868	blood:	n/a	n/a
11	CTCF	chr3:51990580-51990730	AG09319	gingival:	n/a	n/a
12	CTCF	chr3:51989980-51990130	GM12871	blood:	n/a	n/a
13	CTCF	chr3:51990620-51990770	GM12866	blood:	n/a	n/a
14	CTCF	chr3:51990553-51990725	GM19240	blood:	n/a	n/a
15	CTCF	chr3:51990560-51990710	GM12867	blood:	n/a	n/a
16	CTCF	chr3:51989940-51990090	GM12864	blood:	n/a	n/a
17	CTCF	chr3:51990600-51990750	GM12868	blood:	n/a	n/a
18	CTCF	chr3:51989857-51990205	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr3:51990580-51990730	HPF	lung:	n/a	n/a
20	CTCF	chr3:51990600-51990750	GM12871	blood:	n/a	n/a
21	CTCF	chr3:51990640-51990790	HRE	kidney:	n/a	n/a
22	CTCF	chr3:51990040-51990190	RPTEC	kidney:	n/a	n/a
23	CTCF	chr3:51990060-51990210	HPF	lung:	n/a	n/a
24	CTCF	chr3:51990586-51990767	HUVEC	blood vessel:	n/a	n/a
25	CTCF	chr3:51990520-51990670	HL-60	blood:	n/a	n/a
26	CTCF	chr3:51990040-51990190	NHLF	lung:	n/a	n/a
27	CTCF	chr3:51989960-51990110	AG10803	skin:	n/a	n/a
28	CTCF	chr3:51990600-51990750	HCPEpiC	choroid plexus:	n/a	n/a
29	CTCF	chr3:51989980-51990130	AG04450	lung:	n/a	n/a
30	CTCF	chr3:51990580-51990730	GM12864	blood:	n/a	n/a
31	CTCF	chr3:51989960-51990110	HUVEC	blood vessel:	n/a	n/a
32	CTCF	chr3:51990043-51990095	GM10266	blood:	n/a	n/a
33	CTCF	chr3:51989980-51990130	HAc	cerebellar:	n/a	n/a
34	CTCF	chr3:51990620-51990770	HCFaa	heart:	n/a	n/a
35	CTCF	chr3:51991120-51991270	SAEC	small airway:	n/a	n/a
36	CTCF	chr3:51990540-51990690	GM12874	blood:	n/a	n/a
37	CTCF	chr3:51990000-51990150	HVMF	connective:	n/a	n/a
38	CTCF	chr3:51990640-51990790	HFF-Myc	foreskin:	n/a	n/a
39	CTCF	chr3:51990580-51990727	HepG2	liver:	n/a	n/a
40	CTCF	chr3:51990560-51990710	SAEC	small airway:	n/a	n/a
41	CTCF	chr3:51990560-51990710	HepG2	liver:	n/a	n/a
42	CTCF	chr3:51990600-51990750	HVMF	connective:	n/a	n/a
43	CTCF	chr3:51990000-51990150	HUVEC	blood vessel:	n/a	n/a
44	CTCF	chr3:51989960-51990110	AoAF	blood vessel:	n/a	n/a
45	CTCF	chr3:51990640-51990790	HPAF	blood vessel:	n/a	n/a
46	CTCF	chr3:51990560-51990710	GM12875	blood:	n/a	n/a
47	CTCF	chr3:51989880-51990030	GM12872	blood:	n/a	n/a
48	CTCF	chr3:51989990-51990138	NHEK	skin:	n/a	n/a
49	CTCF	chr3:51990540-51990690	WERI-Rb-1	eye:	n/a	n/a
50	CTCF	chr3:51990560-51990710	HAc	cerebellar:	n/a	n/a

(count:428 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:51990638-51990688	PrEC	prostate:	n/a
2	chr3:51990638-51990688	PrEC	prostate:	n/a
3	chr3:51989369-51989419	HL-60	blood:	n/a
4	chr3:51990301-51990351	U87	brain:	n/a
5	chr3:51990575-51990625	HCT-116	colon:	n/a
6	chr3:51990929-51990979	U87	brain:	n/a
7	chr3:51990638-51990688	HCF	heart:	n/a
8	chr3:51990638-51990688	PFSK-1	brain:	n/a
9	chr3:51990929-51990979	MCF-7	breast:	n/a
10	chr3:51990575-51990625	GM19239	blood:	n/a
11	chr3:51990301-51990351	HAEpiC	amniotic membrane:	n/a
12	chr3:51989369-51989419	HMEC	breast:	n/a
13	chr3:51990638-51990688	HRPEpiC	eye:	n/a
14	chr3:51989369-51989419	T-47D	breast:	n/a
15	chr3:51989692-51989742	AG09319	gingival:	n/a
16	chr3:51990929-51990979	RPTEC	kidney:	n/a
17	chr3:51990638-51990688	HPAEpiC	pulmonary alveolar:	n/a
18	chr3:51989764-51989814	NT2-D1	testis:	n/a
19	chr3:51989764-51989814	HNPCEpiC	eye:	n/a
20	chr3:51990638-51990688	NB4	blood:	n/a
21	chr3:51990575-51990625	HRPEpiC	eye:	n/a
22	chr3:51989764-51989814	HepG2	liver:	n/a
23	chr3:51990301-51990351	HCF	heart:	n/a
24	chr3:51989369-51989419	HAEpiC	amniotic membrane:	n/a
25	chr3:51989692-51989742	NB4	blood:	n/a
26	chr3:51989764-51989814	HCM	heart:	n/a
27	chr3:51990929-51990979	NHDF-neo	bronchial:	n/a
28	chr3:51990638-51990688	LNCaP	prostate:	n/a
29	chr3:51990929-51990979	HRE	kidney:	n/a
30	chr3:51990929-51990979	NHBE	bronchial:	n/a
31	chr3:51990638-51990688	BJ	skin:	n/a
32	chr3:51990575-51990625	BE2_C	brain:	n/a
33	chr3:51989692-51989742	SAEC	small airway:	n/a
34	chr3:51990575-51990625	SAEC	small airway:	n/a
35	chr3:51990929-51990979	ovcar-3	ovarian:	n/a
36	chr3:51990929-51990979	Hepatocyte	liver:	n/a
37	chr3:51990575-51990625	NHDF-neo	bronchial:	n/a
38	chr3:51990575-51990625	LNCaP	prostate:	n/a
39	chr3:51990638-51990688	H1-hESC	embryonic stem cell:	embryo
40	chr3:51989369-51989419	HRPEpiC	eye:	n/a
41	chr3:51989369-51989419	ECC-1	luminal epithelium:	n/a
42	chr3:51989692-51989742	ECC-1	luminal epithelium:	n/a
43	chr3:51989764-51989814	IMR90	lung:	fetal
44	chr3:51989369-51989419	HCF	heart:	n/a
45	chr3:51990575-51990625	HPAEpiC	pulmonary alveolar:	n/a
46	chr3:51989764-51989814	HIPEpiC	eye:	n/a
47	chr3:51989692-51989742	HMEC	breast:	n/a
48	chr3:51990638-51990688	SK-N-SH_RA	brain:	n/a
49	chr3:51989692-51989742	SKMC	muscle:	n/a
50	chr3:51989764-51989814	GM12891	blood:	n/a

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:51991130..51993001-chr3:51999490..52001486,2	MCF-7	breast:
2	chr3:51985305..51989166-chr3:51989564..51992012,3	K562	blood:
3	chr3:51985563..51987517-chr3:51990241..51992502,2	MCF-7	breast:
4	chr3:51989698..51992601-chr3:51995625..51997375,2	MCF-7	breast:
5	chr3:51980605..51983550-chr3:51988202..51990542,2	MCF-7	breast:
6	chr3:51987928..51991924-chr3:52001407..52003695,4	MCF-7	breast:
7	chr3:51976311..51979172-chr3:51989239..51992217,2	K562	blood:
8	chr3:51987614..51990073-chr3:52025987..52029912,3	K562	blood:
9	chr3:51985305..51989166-chr3:51989564..51992012,3	K562	blood:
10	chr3:51988573..51991523-chr3:52028412..52030001,2	K562	blood:
11	chr3:51988009..51992311-chr3:51992660..51997455,6	K562	blood:

No data

Variant related genes	Relation type
GPR62	TF binding region
GPR62	CpG island
ENSG00000090097	chromatin interactions
ENSG00000162244	chromatin interactions
ENSG00000041880	chromatin interactions

Extended variants
information (count: 61 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148881019	chr3:51989205-51989206	Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs547682188	chr3:51989212-51989213	Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs565806108	chr3:51989277-51989278	Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs536522555	chr3:51989463-51989464	Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs554376120	chr3:51989524-51989525	Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs79548896	chr3:51989546-51989547	Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs532072278	chr3:51989590-51989591	Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs115390330	chr3:51989611-51989612	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs75425349	chr3:51989645-51989646	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs569339502	chr3:51989651-51989652	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs369820970	chr3:51989679-51989680	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs576440931	chr3:51989689-51989690	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs375586227	chr3:51989755-51989756	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs200154994	chr3:51989767-51989768	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs148595616	chr3:51989786-51989787	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs150608432	chr3:51989801-51989802	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs554470869	chr3:51989825-51989826	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs572679692	chr3:51989836-51989837	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs543295624	chr3:51989914-51989915	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs112596491	chr3:51989964-51989965	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs112738567	chr3:51989982-51989983	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs28587738	chr3:51990119-51990120	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs576662120	chr3:51990224-51990225	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs28651222	chr3:51990315-51990316	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs17852417	chr3:51990355-51990356	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs17852418	chr3:51990362-51990363	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs565342512	chr3:51990502-51990503	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs372871180	chr3:51990541-51990542	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs375952663	chr3:51990544-51990545	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs369081876	chr3:51990565-51990566	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs532559314	chr3:51990587-51990588	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs184860083	chr3:51990589-51990590	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs323871	chr3:51990605-51990606	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs139701285	chr3:51990606-51990607	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs376519303	chr3:51990617-51990618	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs202145053	chr3:51990631-51990632	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs73082754	chr3:51990646-51990647	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs569520728	chr3:51990652-51990653	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs371070284	chr3:51990677-51990678	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs201619775	chr3:51990718-51990719	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs375442322	chr3:51990729-51990730	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs148062055	chr3:51990732-51990733	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs116027996	chr3:51990763-51990764	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs143417706	chr3:51990767-51990768	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs534694818	chr3:51990794-51990795	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs73082757	chr3:51990817-51990818	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs574369233	chr3:51990834-51990835	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs536948373	chr3:51990867-51990868	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs555261087	chr3:51990871-51990872	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs372544559	chr3:51990873-51990874	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
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
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
Breast cancer	21785460	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Bladder cancer	21909424	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Septo-optic dysplasia	21572526	CNVD
Biliary cancer	19435499	CNVD
Squamous cell cancer	20885788	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
Ventriculomegaly	21325761	CNVD
Breast cancer	16608533	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:441 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:51977200-51989200	Weak transcription	Ovary	ovary
2	chr3:51977200-51992000	Weak transcription	Aorta	Aorta
3	chr3:51977400-51989200	Weak transcription	Esophagus	oesophagus
4	chr3:51977600-51989400	Weak transcription	Left Ventricle	heart
5	chr3:51977800-51989400	Weak transcription	Colon Smooth Muscle	Colon
6	chr3:51980400-51989400	Weak transcription	Right Ventricle	heart
7	chr3:51980600-51989200	Weak transcription	Gastric	stomach
8	chr3:51983400-51989400	Weak transcription	Lung	lung
9	chr3:51983600-51989200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr3:51983600-51989200	Weak transcription	Adipose Nuclei	Adipose
11	chr3:51983600-51989200	Weak transcription	Spleen	Spleen
12	chr3:51983800-51990200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr3:51984000-51989200	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr3:51984400-51989200	Weak transcription	Liver	Liver
15	chr3:51986200-51993400	Weak transcription	HepG2	liver
16	chr3:51987600-51989400	Enhancers	Brain Substantia Nigra	brain
17	chr3:51987600-51990200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
18	chr3:51987600-51992000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr3:51987800-51989200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:51987800-51989200	Weak transcription	Psoas Muscle	Psoas
21	chr3:51988000-51989400	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr3:51988000-51989600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr3:51988000-51990600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr3:51988000-51990800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr3:51988000-51990800	Weak transcription	HSMM	muscle
26	chr3:51988000-51992400	Weak transcription	HSMMtube	muscle
27	chr3:51988200-51989400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr3:51988200-51989400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr3:51988200-51989400	Weak transcription	Right Atrium	heart
30	chr3:51988200-51989600	Weak transcription	Osteobl	bone
31	chr3:51988400-52000600	Weak transcription	Hela-S3	cervix
32	chr3:51988800-51989200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr3:51988800-51989400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr3:51988800-51989600	Bivalent Enhancer	Fetal Muscle Leg	muscle
35	chr3:51989000-51989200	Flanking Active TSS	Brain Angular Gyrus	brain
36	chr3:51989000-51989200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
37	chr3:51989000-51989200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr3:51989000-51989400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr3:51989000-51989400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
40	chr3:51989000-51989400	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr3:51989000-51989600	Flanking Active TSS	Brain Anterior Caudate	brain
42	chr3:51989000-51989600	Flanking Active TSS	Brain Hippocampus Middle	brain
43	chr3:51989000-51989800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
44	chr3:51989000-51989800	Flanking Active TSS	Brain Cingulate Gyrus	brain
45	chr3:51989000-51989800	Enhancers	Pancreas	Pancrea
46	chr3:51989000-51990000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
47	chr3:51989200-51989400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
48	chr3:51989200-51989400	Bivalent Enhancer	Brain Germinal Matrix	brain
49	chr3:51989200-51989400	Enhancers	Esophagus	oesophagus
50	chr3:51989200-51989400	Bivalent Enhancer	Fetal Brain Female	brain

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