Variant report

Variant	rs191355656
Chromosome Location	chr7:66118467-66118468
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:52)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:52 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr7:66118246-66120883	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr7:66118182-66118471	HepG2	liver:	n/a	n/a
3	STAT5A	chr7:66118071-66118583	GM12878	blood:	n/a	n/a
4	POLR2A	chr7:66118049-66118591	GM12892	blood:	n/a	n/a
5	POLR2A	chr7:66117556-66118668	K562	blood:	n/a	n/a
6	USF2	chr7:66118130-66118572	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr7:66118086-66118475	K562	blood:	n/a	n/a
8	POLR2A	chr7:66118464-66118663	GM12878	blood:	n/a	n/a
9	POLR2A	chr7:66117979-66118696	IMR90	lung:	n/a	n/a
10	CEBPB	chr7:66118144-66118544	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr7:66118041-66118737	GM12892	blood:	n/a	n/a
12	SMC3	chr7:66118359-66118669	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr7:66117540-66120560	GM12878	blood:	n/a	n/a
14	RUNX3	chr7:66118374-66118716	GM12878	blood:	n/a	n/a
15	HEY1	chr7:66118134-66118557	HepG2	liver:	n/a	n/a
16	POLR2A	chr7:66118089-66118507	A549	lung:	n/a	n/a
17	YY1	chr7:66118467-66118711	K562	blood:	n/a	n/a
18	CHD2	chr7:66118311-66118660	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr7:66117891-66118678	GM12878	blood:	n/a	n/a
20	POLR2A	chr7:66118425-66118731	K562	blood:	n/a	n/a
21	TEAD4	chr7:66118072-66118700	K562	blood:	n/a	chr7:66118378-66118387
22	PAX5	chr7:66118422-66118781	GM12878	blood:	n/a	n/a
23	POLR2A	chr7:66118284-66120509	Hela-S3	cervix:	n/a	n/a
24	RCOR1	chr7:66118325-66118609	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr7:66118078-66118717	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr7:66118099-66118642	Hela-S3	cervix:	n/a	n/a
27	HEY1	chr7:66118065-66118560	K562	blood:	n/a	n/a
28	POLR2A	chr7:66118157-66118648	Hela-S3	cervix:	n/a	n/a
29	POU2F2	chr7:66118359-66118638	GM12878	blood:	n/a	n/a
30	POLR2A	chr7:66118106-66118687	GM12892	blood:	n/a	n/a
31	MXI1	chr7:66118418-66118502	H1-hESC	embryonic stem cell:	n/a	n/a
32	BHLHE40	chr7:66118327-66118594	K562	blood:	n/a	n/a
33	POLR2A	chr7:66118232-66118500	HepG2	liver:	n/a	n/a
34	POLR2A	chr7:66118171-66118577	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr7:66117990-66118603	GM12878	blood:	n/a	n/a
36	PML	chr7:66118095-66118642	GM12878	blood:	n/a	n/a
37	MAX	chr7:66118236-66118655	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr7:66118199-66118653	MCF-7	breast:	n/a	n/a
39	POLR2A	chr7:66118203-66118495	GM12891	blood:	n/a	n/a
40	MTA3	chr7:66118028-66118741	GM12878	blood:	n/a	n/a
41	POLR2A	chr7:66117976-66118623	GM12891	blood:	n/a	n/a
42	RUNX3	chr7:66118400-66118738	GM12878	blood:	n/a	n/a
43	POLR2A	chr7:66118192-66118823	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr7:66118080-66120654	H1-hESC	embryonic stem cell:	n/a	n/a
45	TBL1XR1	chr7:66118253-66118506	GM12878	blood:	n/a	n/a
46	POLR2A	chr7:66117691-66120520	HepG2	liver:	n/a	n/a
47	GTF2F1	chr7:66118285-66118526	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr7:66118044-66118661	PANC-1	pancreas:	n/a	n/a
49	POLR2A	chr7:66117955-66118612	SK-N-SH	brain:	n/a	n/a
50	POLR2A	chr7:66118039-66118743	GM12892	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:66118152..66121117-chr7:66145225..66147766,4	MCF-7	breast:
2	chr7:66092456..66095854-chr7:66117562..66119715,4	MCF-7	breast:
3	chr7:66055924..66057616-chr7:66118024..66120875,2	K562	blood:
4	chr7:65540244..65541852-chr7:66118000..66119624,2	K562	blood:
5	chr7:66117717..66119604-chr7:66204829..66207389,2	K562	blood:
6	chr7:66117771..66119349-chr7:66203886..66206364,2	MCF-7	breast:
7	chr7:66055703..66058887-chr7:66117840..66121190,6	MCF-7	breast:
8	chr7:66116638..66119241-chr7:66120094..66122874,2	K562	blood:
9	chr7:66091844..66094640-chr7:66118336..66122170,5	MCF-7	breast:
10	chr7:66091898..66097382-chr7:66117985..66122507,10	K562	blood:

No data

Variant related genes	Relation type
ENSG00000226824	TF binding region
ENSG00000126522	Chromatin interaction
ENSG00000243335	Chromatin interaction
ENSG00000272831	Chromatin interaction
ENSG00000232559	Chromatin interaction
ENSG00000154710	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	esv2761151	chr7:66095738-66138285	Flanking Active TSS Strong transcription Genic enhancers Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	esv3496297	chr7:66099491-66136579	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	esv3496298	chr7:66099491-66136579	Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	esv3486481	chr7:66101377-66137773	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	esv3486482	chr7:66101377-66137773	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	esv3509629	chr7:66101713-66137585	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	esv3509631	chr7:66101713-66137585	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
10	nsv967445	chr7:66112743-66133589	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
11	esv3441217	chr7:66118067-66120865	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66105000-66118600	Weak transcription	Esophagus	oesophagus
2	chr7:66105000-66119000	Weak transcription	Gastric	stomach
3	chr7:66105200-66118800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:66106800-66118600	Weak transcription	Fetal Kidney	kidney
5	chr7:66107400-66118600	Weak transcription	Fetal Lung	lung
6	chr7:66110000-66118800	Weak transcription	Ovary	ovary
7	chr7:66111200-66118600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr7:66112400-66118600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr7:66112400-66118800	Weak transcription	Aorta	Aorta
10	chr7:66113200-66118600	Weak transcription	Left Ventricle	heart
11	chr7:66113600-66118600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr7:66118000-66118600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr7:66118000-66118600	Flanking Active TSS	Hela-S3	cervix
14	chr7:66118000-66121000	Active TSS	H1 Cell Line	embryonic stem cell
15	chr7:66118200-66118600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:66118200-66118600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr7:66118200-66118600	Enhancers	Primary B cells from peripheral blood	blood
18	chr7:66118200-66118600	Enhancers	Primary T cells fromperipheralblood	blood
19	chr7:66118200-66118600	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr7:66118200-66118600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr7:66118200-66118600	Flanking Active TSS	Fetal Intestine Small	intestine
22	chr7:66118200-66118600	Enhancers	Spleen	Spleen
23	chr7:66118200-66118600	Flanking Active TSS	A549	lung
24	chr7:66118200-66118600	Flanking Active TSS	HepG2	liver
25	chr7:66118200-66118600	Flanking Active TSS	K562	blood
26	chr7:66118200-66118800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr7:66118200-66118800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr7:66118200-66119000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr7:66118200-66119000	Active TSS	Brain Germinal Matrix	brain
30	chr7:66118200-66119000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr7:66118200-66119200	Flanking Active TSS	Dnd41	blood
32	chr7:66118200-66120800	Active TSS	H9 Cell Line	embryonic stem cell
33	chr7:66118200-66120800	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr7:66118200-66120800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr7:66118200-66120800	Active TSS	Fetal Intestine Large	intestine
36	chr7:66118200-66121000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr7:66118200-66121000	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr7:66118200-66121200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:66118200-66121200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr7:66118200-66121200	Active TSS	HUES64 Cell Line	embryonic stem cell
41	chr7:66118200-66121200	Active TSS	NHDF-Ad	bronchial
42	chr7:66118400-66118600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr7:66118400-66118600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr7:66118400-66118600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
45	chr7:66118400-66118600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr7:66118400-66118600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr7:66118400-66118600	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr7:66118400-66118600	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr7:66118400-66118600	Enhancers	Primary T cells from cord blood	blood
50	chr7:66118400-66118600	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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