Variant report

Variant	nsv528929
Chromosome Location	chr2:171672191-171678379
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:171672339-171672492	K562	blood:	n/a	chr2:171672406-171672414
2	ATF2	chr2:171672094-171672593	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF3	chr2:171672245-171672657	K562	blood:	n/a	n/a
4	BACH1	chr2:171673461-171673478	K562	blood:	n/a	n/a
5	BACH1	chr2:171672258-171672565	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr2:171673160-171673233	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr2:171676735-171676871	H1-hESC	embryonic stem cell:	n/a	n/a
8	BCLAF1	chr2:171672186-171672566	GM12878	blood:	n/a	n/a
9	BHLHE40	chr2:171677545-171677612	K562	blood:	n/a	n/a
10	BHLHE40	chr2:171673198-171673865	GM12878	blood:	n/a	chr2:171673247-171673263
11	BHLHE40	chr2:171673040-171673653	K562	blood:	n/a	chr2:171673247-171673263
12	BHLHE40	chr2:171672221-171672496	HepG2	liver:	n/a	n/a
13	BHLHE40	chr2:171672220-171672817	GM12878	blood:	n/a	n/a
14	BHLHE40	chr2:171672229-171672838	K562	blood:	n/a	n/a
15	BRCA1	chr2:171672141-171672547	H1-hESC	embryonic stem cell:	n/a	n/a
16	BRCA1	chr2:171673162-171673500	Hela-S3	cervix:	n/a	n/a
17	CBX3	chr2:171673115-171673678	K562	blood:	n/a	n/a
18	CBX3	chr2:171672125-171672568	K562	blood:	n/a	n/a
19	CBX3	chr2:171677407-171677754	K562	blood:	n/a	n/a
20	CCNT2	chr2:171672247-171672908	K562	blood:	n/a	n/a
21	CCNT2	chr2:171676799-171676806	K562	blood:	n/a	n/a
22	CCNT2	chr2:171673137-171673706	K562	blood:	n/a	n/a
23	CCNT2	chr2:171677455-171677768	K562	blood:	n/a	n/a
24	CEBPB	chr2:171672129-171672565	H1-hESC	embryonic stem cell:	n/a	n/a
25	CEBPB	chr2:171673174-171673574	Hela-S3	cervix:	n/a	n/a
26	CEBPD	chr2:171677356-171677830	K562	blood:	n/a	n/a
27	CHD1	chr2:171672277-171672474	GM12878	blood:	n/a	n/a
28	CHD2	chr2:171673426-171673547	HepG2	liver:	n/a	n/a
29	CHD2	chr2:171674289-171674291	H1-hESC	embryonic stem cell:	n/a	n/a
30	CHD2	chr2:171673166-171673604	Hela-S3	cervix:	n/a	n/a
31	CHD2	chr2:171673226-171673605	K562	blood:	n/a	n/a
32	CHD2	chr2:171672299-171672552	Hela-S3	cervix:	n/a	n/a
33	CHD2	chr2:171672227-171672488	GM12878	blood:	n/a	n/a
34	CHD2	chr2:171673218-171673483	GM12878	blood:	n/a	n/a
35	CHD2	chr2:171673867-171673925	Hela-S3	cervix:	n/a	n/a
36	CHD2	chr2:171671936-171672511	H1-hESC	embryonic stem cell:	n/a	n/a
37	CHD2	chr2:171676305-171677000	H1-hESC	embryonic stem cell:	n/a	chr2:171676965-171676972 chr2:171676600-171676607
38	CHD2	chr2:171673366-171673517	H1-hESC	embryonic stem cell:	n/a	n/a
39	CHD2	chr2:171672213-171672261	K562	blood:	n/a	n/a
40	CREB1	chr2:171672235-171672515	A549	lung:	n/a	n/a
41	CTBP2	chr2:171676326-171681103	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTBP2	chr2:171672114-171675650	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr2:171672360-171672510	Hela-S3	cervix:	n/a	chr2:171672410-171672426 chr2:171672412-171672422 chr2:171672411-171672424 chr2:171672404-171672425 chr2:171672411-171672424 chr2:171672415-171672424 chr2:171672409-171672427
44	CTCF	chr2:171672340-171672490	HCPEpiC	choroid plexus:	n/a	chr2:171672410-171672426 chr2:171672412-171672422 chr2:171672411-171672424 chr2:171672404-171672425 chr2:171672411-171672424 chr2:171672415-171672424 chr2:171672409-171672427
45	CTCF	chr2:171672684-171672759	Spleen_OC	spleen:	n/a	n/a
46	CTCF	chr2:171672340-171672490	HEK293	kidney:	n/a	chr2:171672410-171672426 chr2:171672412-171672422 chr2:171672411-171672424 chr2:171672404-171672425 chr2:171672411-171672424 chr2:171672415-171672424 chr2:171672409-171672427
47	CTCF	chr2:171673140-171673290	MCF-7	breast:	n/a	n/a
48	CTCF	chr2:171672227-171672591	SK-N-SH_RA	brain:	n/a	chr2:171672410-171672426 chr2:171672412-171672422 chr2:171672411-171672424 chr2:171672404-171672425 chr2:171672411-171672424 chr2:171672415-171672424 chr2:171672409-171672427
49	CTCF	chr2:171672340-171672490	HBMEC	blood vessel:	n/a	chr2:171672410-171672426 chr2:171672412-171672422 chr2:171672411-171672424 chr2:171672404-171672425 chr2:171672411-171672424 chr2:171672415-171672424 chr2:171672409-171672427
50	CTCF	chr2:171672280-171672430	WI-38	lung:	n/a	chr2:171672410-171672426 chr2:171672412-171672422 chr2:171672411-171672424 chr2:171672404-171672425 chr2:171672411-171672424 chr2:171672415-171672424 chr2:171672409-171672427

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:171673547-171673597	Hepatocyte	liver:	n/a
2	chr2:171673547-171673597	Hepatocyte	liver:	n/a
3	chr2:171673547-171673597	PFSK-1	brain:	n/a
4	chr2:171673572-171673622	ovcar-3	ovarian:	n/a
5	chr2:171673110-171673160	NH-A	brain:	n/a
6	chr2:171673110-171673160	RPTEC	kidney:	n/a
7	chr2:171672899-171672949	U87	brain:	n/a
8	chr2:171673199-171673249	ECC-1	luminal epithelium:	n/a
9	chr2:171673199-171673249	HPAEpiC	pulmonary alveolar:	n/a
10	chr2:171677602-171677652	SAEC	small airway:	n/a
11	chr2:171672156-171672206	HEK293	kidney:	embryo
12	chr2:171673572-171673622	SKMC	muscle:	n/a
13	chr2:171673272-171673322	HRCEpiC	kidney:	n/a
14	chr2:171673199-171673249	NT2-D1	testis:	n/a
15	chr2:171673572-171673622	HCM	heart:	n/a
16	chr2:171672205-171672255	Hepatocyte	liver:	n/a
17	chr2:171672205-171672255	HRCEpiC	kidney:	n/a
18	chr2:171674855-171674905	ProgFib	skin:	n/a
19	chr2:171677602-171677652	GM12878	blood:	n/a
20	chr2:171672899-171672949	HCT-116	colon:	n/a
21	chr2:171672899-171672949	AG09309	skin:	n/a
22	chr2:171673272-171673322	A549	lung:	n/a
23	chr2:171678251-171678301	NHDF-neo	bronchial:	n/a
24	chr2:171673199-171673249	PANC-1	pancreas:	n/a
25	chr2:171673199-171673249	HRPEpiC	eye:	n/a
26	chr2:171672156-171672206	NH-A	brain:	n/a
27	chr2:171676553-171676603	NH-A	brain:	n/a
28	chr2:171673110-171673160	HAEpiC	amniotic membrane:	n/a
29	chr2:171678251-171678301	AG09319	gingival:	n/a
30	chr2:171676809-171676859	HEK293	kidney:	embryo
31	chr2:171673866-171673916	HEEpiC	esophagus:	n/a
32	chr2:171673547-171673597	GM06990	blood:	n/a
33	chr2:171676809-171676859	MCF10A-Er-Src	breast:	n/a
34	chr2:171676925-171676975	HPAEpiC	pulmonary alveolar:	n/a
35	chr2:171673207-171673257	GM19239	blood:	n/a
36	chr2:171672694-171672744	T-47D	breast:	n/a
37	chr2:171673572-171673622	HAEpiC	amniotic membrane:	n/a
38	chr2:171674437-171674487	SAEC	small airway:	n/a
39	chr2:171673866-171673916	SK-N-MC	brain:	n/a
40	chr2:171672205-171672255	CMK	blood:	n/a
41	chr2:171673207-171673257	ovcar-3	ovarian:	n/a
42	chr2:171673272-171673322	HPAEpiC	pulmonary alveolar:	n/a
43	chr2:171672156-171672206	AG09319	gingival:	n/a
44	chr2:171672899-171672949	PANC-1	pancreas:	n/a
45	chr2:171673207-171673257	SAEC	small airway:	n/a
46	chr2:171673272-171673322	AG04450	lung:	fetal
47	chr2:171674437-171674487	NHDF-neo	bronchial:	n/a
48	chr2:171676925-171676975	AG04450	lung:	fetal
49	chr2:171672205-171672255	ECC-1	luminal epithelium:	n/a
50	chr2:171676553-171676603	BJ	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:171671156..171674030-chr2:171674159..171676823,3	K562	blood:
2	chr2:171672266..171672902-chr2:171785238..171786136,2	MCF-7	breast:
3	chr2:171672408..171674860-chr2:171784778..171786781,3	MCF-7	breast:
4	chr2:171180785..171181693-chr2:171671922..171672450,2	K562	blood:
5	chr2:171669367..171672253-chr2:171672351..171673917,2	K562	blood:
6	chr2:171675485..171677773-chr2:171677982..171679731,3	K562	blood:
7	chr2:171671327..171674926-chr2:171677821..171681963,4	K562	blood:
8	chr2:171671156..171674030-chr2:171674159..171676823,3	K562	blood:
9	chr2:171671327..171674926-chr2:171677821..171681963,4	K562	blood:
10	chr2:171673426..171677773-chr2:171677821..171680534,5	K562	blood:
11	chr2:171673426..171677773-chr2:171677821..171680534,5	K562	blood:
12	chr2:171234154..171234994-chr2:171671884..171672456,2	MCF-7	breast:
13	chr2:171669367..171672253-chr2:171672351..171673917,2	K562	blood:
14	chr2:171672439..171674320-chr2:171784947..171786968,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC007405.2.1-3	chr2:171674228-171674547	ENSG00000235934.1
2	lnc-AC007405.7.1-3	chr2:171678228-171678659	NONHSAT075433
3	lnc-AC007405.2.1-3	chr2:171672915-171672995	ENSG00000235934.1
4	lnc-AC007405.2.1-3	chr2:171673364-171673682	ENSG00000235934.1
5	lnc-AC007405.2.1-3	chr2:171672813-171672995	ENSG00000235934.1
6	lnc-AC007405.2.1-3	chr2:171672803-171672995	ENSG00000235934.1
7	lnc-AC007405.2.1-3	chr2:171674228-171674405	ENSG00000235934.1
8	lnc-AC007405.2.1-3	chr2:171673364-171673509	ENSG00000235934.1
9	lnc-AC007405.2.1-3	chr2:171673364-171673542	ENSG00000235934.1

Variant related genes	Relation type
GAD1	TF binding region
ENSG00000235934	TF binding region
GAD1	CpG island
ENSG00000235934	CpG island
ENSG00000115806	chromatin interactions
ENSG00000128683	chromatin interactions
ENSG00000235934	chromatin interactions

Extended variants
information (count: 262 )
Associated
traits (count: 45 )

Variant overlapped rSNPs/rCNVs (count:262 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3791878	chr2:171672191-171672192	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542034133	chr2:171672193-171672194	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs560473413	chr2:171672211-171672212	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs146696259	chr2:171672312-171672313	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs545898744	chr2:171672315-171672316	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs188908586	chr2:171672321-171672322	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs531720028	chr2:171672326-171672327	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs6755102	chr2:171672375-171672376	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs568206900	chr2:171672383-171672384	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs3762555	chr2:171672395-171672396	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs553147034	chr2:171672429-171672430	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs190849740	chr2:171672442-171672443	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs566055401	chr2:171672538-171672539	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs202054980	chr2:171672575-171672576	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs3762554	chr2:171672576-171672577	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs5836305	chr2:171672578-171672579	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs397934722	chr2:171672581-171672582	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs558279882	chr2:171672592-171672593	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs183041362	chr2:171672600-171672601	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs6755370	chr2:171672623-171672624	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs6755371	chr2:171672627-171672628	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs45628832	chr2:171672637-171672638	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs1362492	chr2:171672644-171672645	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs187366268	chr2:171672661-171672662	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs542070892	chr2:171672673-171672674	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs6758358	chr2:171672688-171672689	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs572266557	chr2:171672725-171672726	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs546038554	chr2:171672758-171672759	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs3749035	chr2:171672780-171672781	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs45525833	chr2:171672819-171672820	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
31	rs4667659	chr2:171672858-171672859	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs116438570	chr2:171672883-171672884	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
33	rs369937312	chr2:171672933-171672934	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
34	rs370332915	chr2:171672981-171672982	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
35	rs45537832	chr2:171673002-171673003	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs547602146	chr2:171673007-171673008	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs191905380	chr2:171673046-171673047	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs138910482	chr2:171673047-171673048	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs552100828	chr2:171673082-171673083	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs4667660	chr2:171673132-171673133	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs115742410	chr2:171673134-171673135	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs201679274	chr2:171673137-171673138	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs114007247	chr2:171673199-171673200	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs375137598	chr2:171673225-171673226	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs376690436	chr2:171673227-171673228	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs535507151	chr2:171673248-171673249	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs554017905	chr2:171673258-171673259	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs45440198	chr2:171673323-171673324	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs572158214	chr2:171673330-171673331	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs112370202	chr2:171673342-171673343	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:45)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	16573809	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Donnai-Barrow syndrome	21085971	CNVD
Breast cancer	21045282	CNVD
Limb abnormalities	22140379	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:960 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171669600-171672200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
2	chr2:171669600-171673000	Bivalent/Poised TSS	Fetal Brain Female	brain
3	chr2:171669600-171675400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
4	chr2:171670200-171676200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
5	chr2:171670400-171676600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr2:171670600-171672200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr2:171670600-171672600	Weak transcription	Gastric	stomach
8	chr2:171671000-171672200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
9	chr2:171671200-171672200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
10	chr2:171671200-171672400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
11	chr2:171671200-171672400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
12	chr2:171671200-171672400	Enhancers	Spleen	Spleen
13	chr2:171671200-171672800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr2:171671400-171672200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
15	chr2:171671400-171672200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
16	chr2:171671400-171672600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
17	chr2:171671400-171675200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:171671400-171675400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
19	chr2:171671600-171672200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr2:171671600-171672200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:171671600-171672400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
22	chr2:171671600-171672400	Bivalent Enhancer	Fetal Thymus	thymus
23	chr2:171671600-171673400	Enhancers	Pancreas	Pancrea
24	chr2:171671800-171672200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
25	chr2:171671800-171672200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:171671800-171672200	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
27	chr2:171671800-171672200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr2:171671800-171672200	Bivalent Enhancer	HepG2	liver
29	chr2:171671800-171672400	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
30	chr2:171671800-171672400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
31	chr2:171671800-171672400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
32	chr2:171671800-171672400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr2:171671800-171672400	Bivalent Enhancer	Esophagus	oesophagus
34	chr2:171671800-171672400	Bivalent Enhancer	Fetal Stomach	stomach
35	chr2:171671800-171675400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
36	chr2:171672000-171672200	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr2:171672000-171672200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr2:171672000-171672200	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 2	blood
39	chr2:171672000-171672200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
40	chr2:171672000-171672200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
41	chr2:171672000-171672200	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
42	chr2:171672000-171672200	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr2:171672000-171672200	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
44	chr2:171672000-171672200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:171672000-171672200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr2:171672000-171672200	Bivalent Enhancer	Adipose Nuclei	Adipose
47	chr2:171672000-171672200	Bivalent Enhancer	Brain Angular Gyrus	brain
48	chr2:171672000-171672200	Bivalent Enhancer	Brain Cingulate Gyrus	brain
49	chr2:171672000-171672200	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
50	chr2:171672000-171672200	Flanking Bivalent TSS/Enh	Brain Substantia Nigra	brain

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