Variant report

Variant	rs7682809
Chromosome Location	chr4:86695349-86695350
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	TCF7L2	chr4:86695230-86696114	HEK293	kidney:	n/a	chr4:86695371-86695380
2	REST	chr4:86695225-86695577	PFSK-1	brain:	n/a	n/a
3	USF1	chr4:86695152-86695351	SK-N-SH_RA	brain:	n/a	n/a
4	KAP1	chr4:86695211-86696020	HEK293	kidney:	n/a	n/a
5	TCF7L2	chr4:86695093-86695501	HCT-116	colon:	n/a	chr4:86695371-86695380
6	EP300	chr4:86695174-86695592	SK-N-SH_RA	brain:	n/a	n/a
7	USF1	chr4:86695210-86695431	SK-N-SH_RA	brain:	n/a	n/a
8	KAP1	chr4:86695156-86695971	U2OS	brain:	n/a	n/a

Variant related genes	Relation type
ARHGAP24	TF binding region

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10004914	1.00[AMR][1000 genomes]
rs10017673	1.00[AMR][1000 genomes]
rs10018270	1.00[AMR][1000 genomes]
rs10024305	1.00[AMR][1000 genomes]
rs11097067	1.00[AMR][1000 genomes]
rs11941635	0.83[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13108185	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs13110649	0.89[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1452678	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs1482086	1.00[AMR][1000 genomes]
rs189357	1.00[AMR][1000 genomes]
rs28384086	1.00[AMR][1000 genomes]
rs28397866	1.00[AMR][1000 genomes]
rs28413133	1.00[AMR][1000 genomes]
rs28421282	1.00[AMR][1000 genomes]
rs28478283	1.00[AMR][1000 genomes]
rs28481580	1.00[AMR][1000 genomes]
rs28482943	1.00[AMR][1000 genomes]
rs28503231	1.00[AMR][1000 genomes]
rs28510473	1.00[AMR][1000 genomes]
rs28528165	1.00[AMR][1000 genomes]
rs28582783	1.00[AMR][1000 genomes]
rs28625743	1.00[AMR][1000 genomes]
rs28646131	1.00[AMR][1000 genomes]
rs28655099	1.00[AMR][1000 genomes]
rs2869383	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs28734976	1.00[AMR][1000 genomes]
rs28809183	1.00[AMR][1000 genomes]
rs28843174	1.00[AMR][1000 genomes]
rs343857	1.00[AMR][1000 genomes]
rs343858	1.00[AMR][1000 genomes]
rs343861	1.00[AMR][1000 genomes]
rs343862	1.00[AMR][1000 genomes]
rs343863	1.00[AMR][1000 genomes]
rs343865	1.00[AMR][1000 genomes]
rs4315779	1.00[AMR][1000 genomes]
rs4343717	1.00[AMR][1000 genomes]
rs4362811	1.00[AMR][1000 genomes]
rs4693125	1.00[AMR][1000 genomes]
rs6531853	1.00[AMR][1000 genomes]
rs6531855	1.00[AMR][1000 genomes]
rs6531857	1.00[AMR][1000 genomes]
rs6531858	1.00[AMR][1000 genomes]
rs6531859	1.00[AMR][1000 genomes]
rs6531860	1.00[AMR][1000 genomes]
rs6812584	0.89[YRI][hapmap];0.90[AFR][1000 genomes]
rs6829248	1.00[AMR][1000 genomes]
rs7376882	1.00[AMR][1000 genomes]
rs7659017	1.00[AMR][1000 genomes]
rs7674538	1.00[AMR][1000 genomes]
rs9993320	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9997347	1.00[AMR][1000 genomes]
rs9999508	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461566	chr4:85988032-86725502	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv594747	chr4:85988032-86725502	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
3	nsv470048	chr4:85998783-86720838	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription 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	5 gene(s)	inside rSNPs	diseases
4	esv3450999	chr4:86485840-86773745	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
5	nsv879517	chr4:86677107-86739805	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86663400-86699800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:86676800-86697800	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr4:86682000-86697000	Weak transcription	Psoas Muscle	Psoas
4	chr4:86683200-86699000	Weak transcription	Primary B cells from cord blood	blood
5	chr4:86684600-86695800	Weak transcription	Primary B cells from peripheral blood	blood
6	chr4:86684800-86705600	Weak transcription	Small Intestine	intestine
7	chr4:86688600-86696800	Weak transcription	Fetal Kidney	kidney
8	chr4:86693800-86697000	Weak transcription	Osteobl	bone
9	chr4:86694000-86695400	Weak transcription	Stomach Mucosa	stomach
10	chr4:86694000-86697000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:86694000-86697200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr4:86694400-86696000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr4:86694400-86696200	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr4:86694400-86696400	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr4:86694400-86696400	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr4:86694400-86697400	Enhancers	HUVEC	blood vessel
17	chr4:86694600-86695400	Enhancers	Pancreas	Pancrea
18	chr4:86694600-86696600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr4:86694600-86697000	Weak transcription	NHDF-Ad	bronchial
20	chr4:86694800-86696400	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr4:86694800-86697600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr4:86695000-86695600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:86695000-86696000	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr4:86695000-86696200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr4:86695000-86697200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr4:86695200-86695400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr4:86695200-86695400	Enhancers	Fetal Heart	heart
28	chr4:86695200-86695400	Enhancers	Fetal Muscle Leg	muscle
29	chr4:86695200-86695400	Enhancers	Gastric	stomach
30	chr4:86695200-86695400	Enhancers	Spleen	Spleen
31	chr4:86695200-86695600	Enhancers	H1 Cell Line	embryonic stem cell
32	chr4:86695200-86695600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr4:86695200-86695600	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr4:86695200-86695600	Enhancers	Esophagus	oesophagus
35	chr4:86695200-86695600	Enhancers	Right Ventricle	heart
36	chr4:86695200-86695800	Enhancers	HMEC	breast
37	chr4:86695200-86696000	Enhancers	H9 Cell Line	embryonic stem cell
38	chr4:86695200-86696000	Enhancers	NHEK	skin

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