Variant report

Variant	rs7577335
Chromosome Location	chr2:20356944-20356945
allele	C/T
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	CREB1	chr2:20356942-20357600	GM12878	blood:	n/a	n/a
2	NFIC	chr2:20356927-20357504	GM12878	blood:	n/a	n/a
3	ARID3A	chr2:20356882-20357084	HepG2	liver:	n/a	n/a
4	MTA3	chr2:20356462-20357663	GM12878	blood:	n/a	n/a
5	RUNX3	chr2:20356906-20357687	GM12878	blood:	n/a	n/a
6	POLR2A	chr2:20355453-20357488	GM12891	blood:	n/a	n/a
7	HNF4A	chr2:20356833-20357077	HepG2	liver:	n/a	chr2:20356987-20357002
8	RUNX3	chr2:20356943-20357669	GM12878	blood:	n/a	n/a
9	POU2F2	chr2:20356941-20357583	GM12878	blood:	n/a	n/a
10	CREB1	chr2:20356916-20357543	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000213729	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1107851	0.85[CHB][hapmap]
rs11096640	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11096641	0.85[CHB][hapmap]
rs11693335	0.90[CHB][hapmap];0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs11895352	0.89[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs11899121	0.88[ASN][1000 genomes]
rs12478327	0.85[CHB][hapmap]
rs13009332	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13010903	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1473886	0.88[ASN][1000 genomes]
rs2090032	0.85[CHB][hapmap]
rs35135293	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57096893	0.80[AFR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6531214	0.82[YRI][hapmap];0.83[ASN][1000 genomes]
rs6531216	0.85[CHB][hapmap]
rs6728072	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs870527	0.88[ASN][1000 genomes]
rs907866	0.84[CHB][hapmap]
rs907868	0.85[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009521	chr2:20310479-20388959	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1012841	chr2:20328894-20415168	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1004083	chr2:20336237-20388138	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1000323	chr2:20336237-20419923	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS 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	15 gene(s)	inside rSNPs	diseases
5	nsv1004947	chr2:20342264-20388138	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1005923	chr2:20344028-20369781	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	nsv581156	chr2:20346312-20356944	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv997958	chr2:20349343-20386339	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv1005524	chr2:20349343-20388138	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv999131	chr2:20350751-20377607	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv998067	chr2:20350751-20386339	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv1001531	chr2:20350751-20388138	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	nsv1007926	chr2:20350751-20393557	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20332200-20364400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:20351200-20357000	Weak transcription	Fetal Lung	lung
3	chr2:20351200-20363800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:20354200-20357000	Weak transcription	HMEC	breast
5	chr2:20354200-20366800	Weak transcription	Placenta	Placenta
6	chr2:20355200-20357800	Enhancers	Stomach Mucosa	stomach
7	chr2:20355400-20357000	Enhancers	Fetal Intestine Small	intestine
8	chr2:20355600-20357000	Enhancers	Fetal Intestine Large	intestine
9	chr2:20356000-20357000	Enhancers	Rectal Mucosa Donor 29	rectum
10	chr2:20356400-20357000	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr2:20356400-20357600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:20356600-20357200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:20356600-20357200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:20356600-20357200	Enhancers	Colonic Mucosa	Colon
15	chr2:20356600-20357200	Enhancers	Pancreas	Pancrea
16	chr2:20356600-20357200	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr2:20356600-20357400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
18	chr2:20356600-20357600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:20356600-20357600	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr2:20356600-20357600	Enhancers	Liver	Liver
21	chr2:20356600-20357600	Flanking Active TSS	Duodenum Mucosa	Duodenum
22	chr2:20356600-20357600	Enhancers	HepG2	liver
23	chr2:20356800-20357000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:20356800-20357000	Enhancers	Brain Germinal Matrix	brain
25	chr2:20356800-20357200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
26	chr2:20356800-20357400	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr2:20356800-20357400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:20356800-20357600	Enhancers	Fetal Kidney	kidney
29	chr2:20356800-20357600	Flanking Active TSS	GM12878-XiMat	blood
30	chr2:20356800-20357600	Enhancers	HSMM	muscle
31	chr2:20356800-20357600	Enhancers	NH-A	brain
32	chr2:20356800-20357600	Enhancers	NHDF-Ad	bronchial
33	chr2:20356800-20357800	Enhancers	Osteobl	bone

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