Variant report

Variant	rs113626522
Chromosome Location	chr7:5460452-5460453
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	chr7:5459589-5463429	K562	blood:	n/a	n/a
2	MAX	chr7:5460383-5460639	A549	lung:	n/a	n/a
3	TAF1	chr7:5460395-5460992	HepG2	liver:	n/a	n/a
4	SMARCB1	chr7:5460250-5462317	Hela-S3	cervix:	n/a	n/a
5	ZNF143	chr7:5460443-5460677	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr7:5459610-5463436	HL-60	blood:	n/a	n/a
7	TCF12	chr7:5460234-5460682	A549	lung:	n/a	n/a
8	POLR2A	chr7:5460344-5461169	ECC-1	luminal epithelium:	n/a	n/a
9	POLR2A	chr7:5456482-5461032	PANC-1	pancreas:	n/a	n/a
10	SIN3AK20	chr7:5456970-5470393	MCF-7	breast:	n/a	n/a
11	SUZ12	chr7:5458124-5462830	NT2-D1	testis:	n/a	n/a
12	POLR2A	chr7:5457865-5470354	H1-neurons	neurons:	n/a	n/a
13	POLR2A	chr7:5460180-5460912	SK-N-MC	brain:	n/a	n/a
14	MAX	chr7:5460275-5461048	MCF-7	breast:	n/a	n/a
15	POLR2A	chr7:5460449-5461151	HUVEC	blood vessel:	n/a	n/a
16	MYC	chr7:5460420-5460854	NB4	blood:	n/a	n/a
17	POLR2A	chr7:5460438-5460904	MCF-7	breast:	n/a	n/a
18	POLR2A	chr7:5460425-5460881	PANC-1	pancreas:	n/a	n/a
19	CTBP2	chr7:5458026-5461203	H1-hESC	embryonic stem cell:	n/a	n/a
20	CHD2	chr7:5460389-5460613	Hela-S3	cervix:	n/a	n/a
21	SUZ12	chr7:5459559-5461024	H1-hESC	embryonic stem cell:	n/a	n/a
22	SIN3AK20	chr7:5457864-5465095	PANC-1	pancreas:	n/a	n/a
23	REST	chr7:5458129-5460881	H1-neurons	neurons:	n/a	chr7:5458637-5458646 chr7:5458179-5458186
24	POLR2A	chr7:5460442-5460769	K562	blood:	n/a	n/a
25	POLR2A	chr7:5456915-5462882	H1-neurons	neurons:	n/a	n/a
26	REST	chr7:5457061-5472012	H1-neurons	neurons:	n/a	chr7:5468294-5468307 chr7:5467627-5467637 chr7:5468232-5468245 chr7:5471416-5471429 chr7:5467731-5467744 chr7:5469242-5469252 chr7:5458637-5458646 chr7:5462028-5462041 chr7:5468512-5468525 chr7:5463999-5464012 chr7:5466422-5466432 chr7:5467728-5467741 chr7:5465411-5465424 chr7:5466243-5466256 chr7:5469137-5469144 chr7:5458179-5458186 chr7:5463246-5463256 chr7:5457330-5457348 chr7:5462916-5462929 chr7:5467188-5467198 chr7:5461092-5461105 chr7:5469591-5469611 chr7:5467040-5467053 chr7:5463487-5463500
27	POLR2A	chr7:5460426-5460919	ECC-1	luminal epithelium:	n/a	n/a
28	MAX	chr7:5460017-5462623	A549	lung:	n/a	chr7:5461891-5461900 chr7:5462398-5462408
29	MAX	chr7:5460351-5460844	NB4	blood:	n/a	n/a
30	MAX	chr7:5460219-5460974	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:5412818..5415236-chr7:5460395..5461956,2	MCF-7	breast:
2	chr7:5458614..5460773-chr7:5569317..5571189,3	K562	blood:
3	chr7:5460438..5462516-chr7:5632091..5633708,2	MCF-7	breast:
4	chr7:5458987..5464555-chr7:5593156..5597256,5	K562	blood:
5	chr7:5458325..5469295-chr7:5567159..5574053,21	MCF-7	breast:
6	chr7:5402886..5404515-chr7:5460414..5462815,2	MCF-7	breast:
7	chr7:5458325..5461852-chr7:5568883..5572530,6	MCF-7	breast:
8	chr7:5459451..5462326-chr7:5602186..5603926,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272953	TF binding region
ENSG00000075624	Chromatin interaction
ENSG00000263900	Chromatin interaction
ENSG00000272719	Chromatin interaction
ENSG00000075618	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
2	nsv530979	chr7:5101631-5864814	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
3	nsv530981	chr7:5157150-5920006	Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
4	nsv887391	chr7:5224407-5572132	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	292 gene(s)	inside rSNPs	diseases
5	nsv823996	chr7:5285503-5465988	Flanking Active TSS Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv887396	chr7:5305297-5475409	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	esv1814049	chr7:5314993-5675131	Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	333 gene(s)	inside rSNPs	diseases
8	esv1820266	chr7:5332088-5665173	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
9	nsv533965	chr7:5370746-5548397	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	52 gene(s)	inside rSNPs	diseases
10	nsv530983	chr7:5370746-6070852	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
11	nsv887401	chr7:5393243-5539958	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	52 gene(s)	inside rSNPs	diseases
12	nsv887402	chr7:5394951-5494677	Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
13	nsv887404	chr7:5402606-5667645	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	331 gene(s)	inside rSNPs	diseases
14	nsv887405	chr7:5409059-5552436	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	52 gene(s)	inside rSNPs	diseases
15	nsv887406	chr7:5414602-5552436	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	52 gene(s)	inside rSNPs	diseases
16	nsv916391	chr7:5417945-5889565	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	336 gene(s)	inside rSNPs	diseases
17	nsv887407	chr7:5432672-5605130	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	302 gene(s)	inside rSNPs	diseases
18	nsv887408	chr7:5432672-5667645	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	331 gene(s)	inside rSNPs	diseases
19	nsv508443	chr7:5447283-5501122	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
20	nsv526194	chr7:5452756-5592436	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	278 gene(s)	inside rSNPs	diseases
21	nsv823997	chr7:5457916-5463961	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
22	esv3428734	chr7:5458676-5468674	Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
23	esv3373616	chr7:5459851-5462399	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5457000-5461400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:5457200-5461000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
3	chr7:5457600-5461000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr7:5457800-5461400	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:5458000-5461000	Flanking Active TSS	Adipose Nuclei	Adipose
6	chr7:5458000-5461200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
7	chr7:5458000-5461600	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
8	chr7:5458200-5460800	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
9	chr7:5458200-5460800	Transcr. at gene 5' and 3'	Fetal Lung	lung
10	chr7:5458400-5461000	Transcr. at gene 5' and 3'	NHLF	lung
11	chr7:5458400-5462800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
12	chr7:5458400-5462800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
13	chr7:5458400-5469800	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr7:5458600-5460600	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
15	chr7:5458600-5460800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
16	chr7:5458600-5460800	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr7:5458600-5460800	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
18	chr7:5458600-5468200	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr7:5458600-5469400	Active TSS	Aorta	Aorta
20	chr7:5458600-5469400	Active TSS	Psoas Muscle	Psoas
21	chr7:5458600-5469800	Active TSS	Fetal Kidney	kidney
22	chr7:5458800-5462800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
23	chr7:5458800-5462800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr7:5458800-5462800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
25	chr7:5458800-5467000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr7:5458800-5468000	Active TSS	Brain Angular Gyrus	brain
27	chr7:5458800-5469400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr7:5458800-5469400	Active TSS	NHDF-Ad	bronchial
29	chr7:5458800-5469600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:5458800-5469600	Active TSS	Colon Smooth Muscle	Colon
31	chr7:5458800-5469800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr7:5458800-5470000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr7:5458800-5470000	Active TSS	HSMMtube	muscle
34	chr7:5459000-5460600	Active TSS	Sigmoid Colon	Sigmoid Colon
35	chr7:5459000-5461000	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
36	chr7:5459000-5461000	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
37	chr7:5459000-5463800	Active TSS	Right Atrium	heart
38	chr7:5459000-5467000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr7:5459000-5467800	Active TSS	Brain Cingulate Gyrus	brain
40	chr7:5459000-5468000	Active TSS	Brain Substantia Nigra	brain
41	chr7:5459000-5468200	Active TSS	HSMM	muscle
42	chr7:5459000-5468400	Active TSS	Left Ventricle	heart
43	chr7:5459000-5468800	Active TSS	Fetal Intestine Large	intestine
44	chr7:5459000-5468800	Active TSS	Rectal Smooth Muscle	rectum
45	chr7:5459000-5469400	Active TSS	Gastric	stomach
46	chr7:5459000-5469400	Active TSS	Small Intestine	intestine
47	chr7:5459000-5469600	Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr7:5459000-5469800	Active TSS	Ovary	ovary
49	chr7:5459200-5460600	Active TSS	Spleen	Spleen
50	chr7:5459200-5460800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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