Variant report

Variant	rs181342591
Chromosome Location	chr7:6703526-6703527
allele	C/G
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	POLR2A	chr7:6703525-6703697	H1-hESC	embryonic stem cell:	n/a	n/a
2	SP4	chr7:6703418-6703777	H1-hESC	embryonic stem cell:	n/a	chr7:6703551-6703562 chr7:6703518-6703534 chr7:6703516-6703532
3	MAX	chr7:6703434-6704298	ECC-1	luminal epithelium:	n/a	chr7:6703943-6703952
4	TAF1	chr7:6703429-6703806	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr7:6703369-6704307	H1-hESC	embryonic stem cell:	n/a	chr7:6703943-6703952
6	E2F6	chr7:6703347-6704662	H1-hESC	embryonic stem cell:	n/a	chr7:6703521-6703530 chr7:6703910-6703919 chr7:6703696-6703705
7	POLR2A	chr7:6703423-6703783	SK-N-MC	brain:	n/a	n/a
8	MYC	chr7:6703437-6703695	H1-hESC	embryonic stem cell:	n/a	n/a
9	TAF1	chr7:6703426-6703824	ECC-1	luminal epithelium:	n/a	n/a
10	TAF1	chr7:6703426-6703662	SK-N-SH	brain:	n/a	n/a
11	SP1	chr7:6703418-6703769	H1-hESC	embryonic stem cell:	n/a	chr7:6703520-6703532 chr7:6703551-6703562 chr7:6703521-6703530 chr7:6703522-6703531 chr7:6703540-6703549 chr7:6703521-6703531 chr7:6703539-6703551 chr7:6703522-6703531 chr7:6703521-6703531 chr7:6703540-6703549 chr7:6703541-6703550 chr7:6703520-6703532
12	POLR2A	chr7:6703457-6703764	SK-N-SH	brain:	n/a	n/a
13	ZBTB7A	chr7:6703455-6704066	ECC-1	luminal epithelium:	n/a	n/a
14	SP1	chr7:6703437-6703746	H1-hESC	embryonic stem cell:	n/a	chr7:6703520-6703532 chr7:6703551-6703562 chr7:6703521-6703530 chr7:6703522-6703531 chr7:6703540-6703549 chr7:6703521-6703531 chr7:6703539-6703551 chr7:6703522-6703531 chr7:6703521-6703531 chr7:6703540-6703549 chr7:6703541-6703550 chr7:6703520-6703532
15	EGR1	chr7:6703445-6703933	H1-hESC	embryonic stem cell:	n/a	chr7:6703788-6703801 chr7:6703516-6703529 chr7:6703788-6703802 chr7:6703515-6703530 chr7:6703788-6703801 chr7:6703777-6703790 chr7:6703521-6703531 chr7:6703516-6703530 chr7:6703516-6703529 chr7:6703519-6703528 chr7:6703516-6703529 chr7:6703788-6703801 chr7:6703791-6703800 chr7:6703519-6703529 chr7:6703787-6703802 chr7:6703788-6703801
16	JUND	chr7:6703496-6703785	H1-hESC	embryonic stem cell:	n/a	n/a
17	NRF1	chr7:6703300-6703914	SK-N-SH	brain:	n/a	chr7:6703696-6703705 chr7:6703521-6703530 chr7:6703698-6703707
18	SP4	chr7:6703413-6703779	H1-hESC	embryonic stem cell:	n/a	chr7:6703551-6703562 chr7:6703518-6703534 chr7:6703516-6703532
19	POLR2A	chr7:6703466-6703765	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr7:6703488-6704102	ECC-1	luminal epithelium:	n/a	n/a
21	ZBTB7A	chr7:6703262-6704111	ECC-1	luminal epithelium:	n/a	n/a
22	TAF1	chr7:6703394-6703829	H1-hESC	embryonic stem cell:	n/a	n/a
23	TBP	chr7:6703462-6703783	H1-hESC	embryonic stem cell:	n/a	n/a
24	EGR1	chr7:6703418-6703972	ECC-1	luminal epithelium:	n/a	chr7:6703788-6703801 chr7:6703516-6703529 chr7:6703788-6703802 chr7:6703515-6703530 chr7:6703788-6703801 chr7:6703777-6703790 chr7:6703521-6703531 chr7:6703516-6703530 chr7:6703516-6703529 chr7:6703519-6703528 chr7:6703516-6703529 chr7:6703788-6703801 chr7:6703791-6703800 chr7:6703519-6703529 chr7:6703787-6703802 chr7:6703788-6703801
25	POLR2A	chr7:6703323-6704459	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr7:6703464-6703772	H1-hESC	embryonic stem cell:	n/a	n/a
27	TAF7	chr7:6703477-6703832	H1-hESC	embryonic stem cell:	n/a	n/a
28	NRF1	chr7:6703441-6703787	H1-hESC	embryonic stem cell:	n/a	chr7:6703696-6703705 chr7:6703521-6703530 chr7:6703698-6703707
29	POLR2A	chr7:6703453-6703852	H1-neurons	neurons:	n/a	n/a
30	POLR2A	chr7:6703441-6703895	ECC-1	luminal epithelium:	n/a	n/a
31	POLR2A	chr7:6703471-6704307	H1-hESC	embryonic stem cell:	n/a	n/a
32	CHD2	chr7:6703432-6703706	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000228010	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
2	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
3	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
4	nsv830895	chr7:6514781-6722092	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	nsv1025220	chr7:6534278-6736802	Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
6	nsv538717	chr7:6534278-6736802	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
7	nsv887432	chr7:6535517-6713985	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
8	nsv887434	chr7:6557135-6713985	Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
9	nsv606002	chr7:6567114-6713985	Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
10	nsv887435	chr7:6613604-6713985	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
11	nsv824002	chr7:6618087-6716961	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
12	nsv824003	chr7:6620920-6721409	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
13	nsv887436	chr7:6626922-6721661	Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
14	esv1797143	chr7:6628177-6705439	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
15	nsv606003	chr7:6628242-6713985	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
16	nsv887437	chr7:6645281-6704332	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
17	nsv887438	chr7:6652740-6709600	ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
18	esv1824232	chr7:6656753-6706631	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
19	esv1841674	chr7:6656753-6706631	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
20	nsv606006	chr7:6659509-6721661	ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
21	esv1803673	chr7:6671496-6721661	Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
22	esv1834684	chr7:6671496-6721661	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
23	esv1800946	chr7:6673956-6706631	Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
24	esv1813782	chr7:6673956-6706631	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
25	esv1818550	chr7:6673956-6706631	Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
26	esv1826832	chr7:6673956-6706631	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
27	esv1839832	chr7:6673956-6706631	Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
28	esv1851662	chr7:6673956-6706631	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
29	esv1834702	chr7:6690240-6706631	Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
30	esv1837801	chr7:6692073-6704332	Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
31	esv1812078	chr7:6692105-6706631	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
32	esv3341039	chr7:6702252-6705000	Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
33	esv3340228	chr7:6702427-6704975	Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6679400-6703600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr7:6694800-6703600	Weak transcription	Aorta	Aorta
3	chr7:6695200-6703600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr7:6695200-6703600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr7:6695400-6703600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr7:6695400-6703600	Weak transcription	NHLF	lung
7	chr7:6695600-6704000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr7:6696600-6703800	Weak transcription	Primary T cells from cord blood	blood
9	chr7:6699200-6703600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr7:6699200-6703600	Weak transcription	Pancreas	Pancrea
11	chr7:6699400-6703600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:6699400-6703600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr7:6699400-6703600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr7:6699400-6704000	Weak transcription	Fetal Intestine Large	intestine
15	chr7:6699600-6703600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr7:6702000-6703600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:6703200-6704800	Enhancers	Fetal Brain Male	brain
18	chr7:6703400-6703600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr7:6703400-6703600	Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr7:6703400-6703600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
21	chr7:6703400-6703600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
22	chr7:6703400-6703600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr7:6703400-6703600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr7:6703400-6703600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr7:6703400-6703600	Enhancers	Lung	lung
26	chr7:6703400-6703600	Active TSS	Right Atrium	heart
27	chr7:6703400-6703800	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr7:6703400-6703800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr7:6703400-6703800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr7:6703400-6703800	Active TSS	Colonic Mucosa	Colon
31	chr7:6703400-6703800	Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr7:6703400-6703800	Bivalent/Poised TSS	Psoas Muscle	Psoas
33	chr7:6703400-6703800	Active TSS	Dnd41	blood
34	chr7:6703400-6704000	Active TSS	H1 Cell Line	embryonic stem cell
35	chr7:6703400-6704000	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr7:6703400-6704000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:6703400-6704000	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr7:6703400-6704000	Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr7:6703400-6704000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
40	chr7:6703400-6704000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr7:6703400-6704000	Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr7:6703400-6704000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr7:6703400-6704000	Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr7:6703400-6704000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr7:6703400-6704000	Active TSS	Brain Germinal Matrix	brain
46	chr7:6703400-6704000	Active TSS	Brain Inferior Temporal Lobe	brain
47	chr7:6703400-6704000	Active TSS	Duodenum Mucosa	Duodenum
48	chr7:6703400-6704000	Active TSS	Esophagus	oesophagus
49	chr7:6703400-6704000	Active TSS	Fetal Stomach	stomach
50	chr7:6703400-6704000	Active TSS	Left Ventricle	heart

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