Variant report

Variant	esv3397052
Chromosome Location	chr1:9711190-9713738
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:372)
CpG islands
(count:733)
Chromatin interactive
region (count:9)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:372 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr1:9712120-9713253	GM12878	blood:	n/a	n/a
2	BACH1	chr1:9712072-9712507	H1-hESC	embryonic stem cell:	n/a	n/a
3	BCL3	chr1:9711545-9712572	GM12878	blood:	n/a	chr1:9712168-9712181 chr1:9711649-9711658
4	BCLAF1	chr1:9713460-9714944	GM12878	blood:	n/a	n/a
5	BCLAF1	chr1:9712078-9712878	GM12878	blood:	n/a	chr1:9712168-9712181
6	BCLAF1	chr1:9711152-9713292	GM12878	blood:	n/a	chr1:9712168-9712181 chr1:9711649-9711658
7	BHLHE40	chr1:9711512-9714842	GM12878	blood:	n/a	chr1:9712163-9712179
8	BHLHE40	chr1:9711682-9711691	K562	blood:	n/a	n/a
9	CCNT2	chr1:9711642-9712387	K562	blood:	n/a	n/a
10	CEBPB	chr1:9712442-9712947	GM12878	blood:	n/a	n/a
11	CHD1	chr1:9711466-9716573	GM12878	blood:	n/a	chr1:9711510-9711517
12	CHD1	chr1:9712057-9712249	H1-hESC	embryonic stem cell:	n/a	n/a
13	CHD1	chr1:9712532-9712769	H1-hESC	embryonic stem cell:	n/a	n/a
14	CHD2	chr1:9712180-9712268	H1-hESC	embryonic stem cell:	n/a	n/a
15	CHD2	chr1:9712434-9713095	GM12878	blood:	n/a	n/a
16	CTCF	chr1:9712740-9712890	GM12872	blood:	n/a	n/a
17	CTCF	chr1:9711584-9711667	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr1:9712840-9712990	GM12873	blood:	n/a	n/a
19	CTCF	chr1:9712724-9713079	GM19238	blood:	n/a	n/a
20	CTCF	chr1:9711540-9711690	GM12864	blood:	n/a	n/a
21	CTCF	chr1:9712800-9712950	GM12872	blood:	n/a	n/a
22	CTCF	chr1:9712100-9712250	GM12868	blood:	n/a	n/a
23	CTCF	chr1:9711580-9711730	HBMEC	blood vessel:	n/a	n/a
24	CTCF	chr1:9712120-9712270	SK-N-SH_RA	brain:	n/a	n/a
25	CTCF	chr1:9712900-9713050	SK-N-SH_RA	brain:	n/a	n/a
26	CTCF	chr1:9711440-9711590	SK-N-SH_RA	brain:	n/a	n/a
27	CTCF	chr1:9712100-9712250	GM12867	blood:	n/a	n/a
28	CTCF	chr1:9712735-9713041	GM19240	blood:	n/a	n/a
29	CTCF	chr1:9712800-9712950	GM12875	blood:	n/a	n/a
30	CTCF	chr1:9711577-9711692	GM19240	blood:	n/a	n/a
31	CTCF	chr1:9712800-9712950	GM12868	blood:	n/a	n/a
32	CTCF	chr1:9712820-9712970	WERI-Rb-1	eye:	n/a	n/a
33	CTCF	chr1:9712289-9712371	GM12892	blood:	n/a	n/a
34	CTCF	chr1:9712760-9713048	GM12891	blood:	n/a	n/a
35	CTCF	chr1:9712800-9712950	HCPEpiC	choroid plexus:	n/a	n/a
36	CTCF	chr1:9712860-9713010	GM12872	blood:	n/a	n/a
37	CTCF	chr1:9712897-9712967	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr1:9712060-9712210	GM12872	blood:	n/a	n/a
39	CTCF	chr1:9713168-9713207	GM12892	blood:	n/a	n/a
40	CTCF	chr1:9711888-9712383	K562	blood:	n/a	chr1:9712280-9712288
41	CTCF	chr1:9712720-9712870	GM12878	blood:	n/a	n/a
42	CTCF	chr1:9712060-9712210	GM12878	blood:	n/a	n/a
43	CTCF	chr1:9712889-9712970	GM13976	blood:	n/a	n/a
44	CTCF	chr1:9712780-9712930	GM12864	blood:	n/a	n/a
45	CTCF	chr1:9712060-9712210	GM12865	blood:	n/a	n/a
46	CTCF	chr1:9711568-9711672	GM12891	blood:	n/a	n/a
47	CTCF	chr1:9712800-9712950	GM12874	blood:	n/a	n/a
48	CTCF	chr1:9711520-9711670	GM12865	blood:	n/a	n/a
49	CTCF	chr1:9711575-9711673	GM19239	blood:	n/a	n/a
50	CTCF	chr1:9712880-9713030	SK-N-SH_RA	brain:	n/a	n/a

(count:733 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:9711398-9711448	Caco-2	colon:	n/a
2	chr1:9711398-9711448	Caco-2	colon:	n/a
3	chr1:9711663-9711713	GM06990	blood:	n/a
4	chr1:9712928-9712978	HNPCEpiC	eye:	n/a
5	chr1:9711653-9711703	GM12878	blood:	n/a
6	chr1:9711632-9711682	HCPEpiC	choroid plexus:	n/a
7	chr1:9711304-9711354	HL-60	blood:	n/a
8	chr1:9711663-9711713	HAEpiC	amniotic membrane:	n/a
9	chr1:9712687-9712737	HMEC	breast:	n/a
10	chr1:9711632-9711682	SK-N-SH	brain:	n/a
11	chr1:9712576-9712626	HCT-116	colon:	n/a
12	chr1:9712687-9712737	GM19239	blood:	n/a
13	chr1:9712928-9712978	LNCaP	prostate:	n/a
14	chr1:9712928-9712978	ProgFib	skin:	n/a
15	chr1:9713284-9713334	HRPEpiC	eye:	n/a
16	chr1:9711304-9711354	SKMC	muscle:	n/a
17	chr1:9711663-9711713	Caco-2	colon:	n/a
18	chr1:9711304-9711354	Hepatocyte	liver:	n/a
19	chr1:9711961-9712011	Hepatocyte	liver:	n/a
20	chr1:9711632-9711682	Caco-2	colon:	n/a
21	chr1:9711961-9712011	Caco-2	colon:	n/a
22	chr1:9711304-9711354	HCPEpiC	choroid plexus:	n/a
23	chr1:9711653-9711703	PFSK-1	brain:	n/a
24	chr1:9712576-9712626	AG09309	skin:	n/a
25	chr1:9713284-9713334	GM06990	blood:	n/a
26	chr1:9711961-9712011	GM12878	blood:	n/a
27	chr1:9712576-9712626	HAEpiC	amniotic membrane:	n/a
28	chr1:9712988-9713038	HPAEpiC	pulmonary alveolar:	n/a
29	chr1:9712928-9712978	HEEpiC	esophagus:	n/a
30	chr1:9711653-9711703	PrEC	prostate:	n/a
31	chr1:9711650-9711700	SK-N-MC	brain:	n/a
32	chr1:9711650-9711700	IMR90	lung:	fetal
33	chr1:9712576-9712626	Hepatocyte	liver:	n/a
34	chr1:9711961-9712011	AG10803	skin:	n/a
35	chr1:9712988-9713038	MCF10A-Er-Src	breast:	n/a
36	chr1:9711961-9712011	NHDF-neo	bronchial:	n/a
37	chr1:9711304-9711354	HUVEC	blood vessel:	n/a
38	chr1:9711961-9712011	RPTEC	kidney:	n/a
39	chr1:9711304-9711354	H1-hESC	embryonic stem cell:	embryo
40	chr1:9711650-9711700	SK-N-SH_RA	brain:	n/a
41	chr1:9711398-9711448	MCF10A-Er-Src	breast:	n/a
42	chr1:9712576-9712626	HMEC	breast:	n/a
43	chr1:9711632-9711682	HMEC	breast:	n/a
44	chr1:9712576-9712626	HCF	heart:	n/a
45	chr1:9711632-9711682	HEEpiC	esophagus:	n/a
46	chr1:9712928-9712978	PFSK-1	brain:	n/a
47	chr1:9712687-9712737	AoSMC	blood vessel:	n/a
48	chr1:9712928-9712978	NHDF-neo	bronchial:	n/a
49	chr1:9713284-9713334	HL-60	blood:	n/a
50	chr1:9711632-9711682	HAEpiC	amniotic membrane:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:9707217..9711639-chr1:9712091..9714173,4	K562	blood:
2	chr1:9707217..9709731-chr1:9712306..9714173,2	K562	blood:
3	chr1:9711558..9713078-chr1:9714581..9716191,2	K562	blood:
4	chr1:9707217..9711639-chr1:9712091..9714173,4	K562	blood:
5	chr1:9688707..9690744-chr1:9709792..9711665,2	K562	blood:
6	chr1:9712211..9714464-chr1:9777266..9779000,2	K562	blood:
7	chr1:9710199..9713089-chr1:9746772..9748545,3	MCF-7	breast:
8	chr1:9712578..9717626-chr1:9745796..9749976,6	K562	blood:
9	chr1:9694192..9696091-chr1:9712355..9714508,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C1orf200-5	chr1:9712668-9714101	NR_027045

No data

Variant related genes	Relation type
PIK3CD	TF binding region
PIK3CD	CpG island
ENSG00000231789	chromatin interactions
ENSG00000171608	chromatin interactions
ENSG00000179840	chromatin interactions

Extended variants
information (count: 96 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138651808	chr1:9711249-9711250	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs7518602	chr1:9711344-9711345	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs536149921	chr1:9711389-9711390	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs149303127	chr1:9711395-9711396	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs372355157	chr1:9711415-9711416	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs78787196	chr1:9711421-9711422	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs557025639	chr1:9711437-9711438	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs144267792	chr1:9711450-9711451	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs7518793	chr1:9711487-9711488	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs555776502	chr1:9711503-9711504	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs564172130	chr1:9711526-9711527	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs528746548	chr1:9711608-9711609	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs573629179	chr1:9711609-9711610	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs540648638	chr1:9711621-9711622	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs72869669	chr1:9711631-9711632	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs7516138	chr1:9711642-9711643	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs7516214	chr1:9711674-9711675	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs556134827	chr1:9711734-9711735	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs11805716	chr1:9711737-9711738	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs11806839	chr1:9711760-9711761	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs375494648	chr1:9711781-9711782	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs534047386	chr1:9711792-9711793	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs369737325	chr1:9711820-9711821	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs567591140	chr1:9711849-9711850	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs537646112	chr1:9711888-9711889	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs78458798	chr1:9711897-9711898	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs373163444	chr1:9711956-9711957	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs539559647	chr1:9711995-9711996	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs147564468	chr1:9712001-9712002	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs78800005	chr1:9712006-9712007	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs369432030	chr1:9712060-9712061	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs540666446	chr1:9712064-9712065	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs562244046	chr1:9712074-9712075	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs74730352	chr1:9712099-9712100	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs574306542	chr1:9712137-9712138	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs78021484	chr1:9712175-9712176	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs547437660	chr1:9712206-9712207	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs370216129	chr1:9712272-9712273	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs565860984	chr1:9712369-9712370	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs565652566	chr1:9712380-9712381	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs551505722	chr1:9712388-9712389	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs375193679	chr1:9712395-9712396	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs560053983	chr1:9712406-9712407	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs374735415	chr1:9712454-9712455	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs539503630	chr1:9712490-9712491	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs377738403	chr1:9712491-9712492	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs549009947	chr1:9712504-9712505	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs112023116	chr1:9712514-9712515	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs567425604	chr1:9712533-9712534	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs537781827	chr1:9712536-9712537	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:120)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	22429812	CNVD
Epilepsy	22118685	CNVD
Schizophrenia	22118685	CNVD
Ovarian cancer	21720365	CNVD
Developmental delay	19490664	CNVD
Ewing''s sarcoma	21437220	CNVD
Prader-willi syndrome	18797701	CNVD
periventricular nodular heterotopia	20648244	CNVD
1p36 deletion syndrome	22283845	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Neuroblastoma	18923524	CNVD
Retinoblastoma	22278416	CNVD
Mental retardation	20152051	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Astrocytoma	17934521	CNVD
Glioblastoma	20031968	CNVD
Acute myeloid leukemia	18000384	CNVD
Glioblastoma multiforme	16951158	CNVD
Neuroblastoma	18574593	CNVD
Glioblastoma multiforme	17369134	CNVD
Autism	18414403	CNVD
Breast cancer	17001317	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Myoepithelioma	18604193	CNVD
Wilms tumour	19047088	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Basal cell lymphoma	21115979	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic myeloid leukemia	21384125	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Neuroblastoma	18923191	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	20406844	CNVD
Glioblastoma multiforme	21138945	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian neoplasms	16753589	CNVD
Neuroblastoma	19287153	CNVD
Hepatocellular carcinoma	18929564	CNVD
Melanoma	17363583	CNVD
renal disease	17924346	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Uveal melanoma	20484589	CNVD
Multiple myeloma	16616336	CNVD
Glioblastoma multiforme	22286061	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:404 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9697400-9711400	Weak transcription	Esophagus	oesophagus
2	chr1:9697800-9711400	Weak transcription	Right Atrium	heart
3	chr1:9702000-9711400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:9703000-9711200	Enhancers	Primary T cells fromperipheralblood	blood
5	chr1:9704400-9711200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr1:9706800-9711400	Weak transcription	K562	blood
7	chr1:9709400-9711200	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr1:9709600-9711200	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr1:9710200-9711200	Enhancers	Primary B cells from peripheral blood	blood
10	chr1:9710400-9711200	Enhancers	Primary B cells from cord blood	blood
11	chr1:9710800-9711200	Enhancers	Primary hematopoietic stem cells	blood
12	chr1:9710800-9711200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr1:9710800-9711200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr1:9710800-9711200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr1:9710800-9711200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr1:9710800-9711200	Enhancers	Fetal Thymus	thymus
17	chr1:9710800-9711200	Enhancers	Thymus	Thymus
18	chr1:9710800-9711400	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
19	chr1:9710800-9711600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr1:9710800-9711600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr1:9710800-9711800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr1:9710800-9711800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:9710800-9714800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr1:9711000-9711200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr1:9711000-9711200	Bivalent Enhancer	Brain Hippocampus Middle	brain
26	chr1:9711000-9711400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:9711000-9711400	Flanking Active TSS	Primary T cells from cord blood	blood
28	chr1:9711000-9711400	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:9711000-9711400	Enhancers	Brain Substantia Nigra	brain
30	chr1:9711000-9711600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr1:9711000-9711600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr1:9711000-9711600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
33	chr1:9711000-9711600	Flanking Active TSS	Dnd41	blood
34	chr1:9711000-9711600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr1:9711000-9711800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr1:9711000-9713200	Active TSS	GM12878-XiMat	blood
37	chr1:9711000-9714600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
38	chr1:9711200-9711400	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
39	chr1:9711200-9711400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr1:9711200-9711400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:9711200-9711400	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:9711200-9711400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:9711200-9711400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr1:9711200-9711400	Flanking Bivalent TSS/Enh	Liver	Liver
45	chr1:9711200-9711400	Bivalent Enhancer	Brain Germinal Matrix	brain
46	chr1:9711200-9711400	Bivalent Enhancer	Duodenum Mucosa	Duodenum
47	chr1:9711200-9711400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
48	chr1:9711200-9711400	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr1:9711200-9711400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
50	chr1:9711200-9711400	Bivalent Enhancer	Fetal Muscle Leg	muscle

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