Variant report

Variant	rs11097074
Chromosome Location	chr4:86696620-86696621
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	EBF1	chr4:86696570-86696785	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ARHGAP24	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11097072	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11097073	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12054628	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13112493	0.83[EUR][1000 genomes]
rs13123125	0.98[ASN][1000 genomes]
rs17010839	0.98[ASN][1000 genomes]
rs343848	0.83[EUR][1000 genomes]
rs343852	0.83[EUR][1000 genomes]
rs56989679	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6819529	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6831420	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72656285	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72656294	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7674888	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7680588	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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:35 , 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	chr4:86684800-86705600	Weak transcription	Small Intestine	intestine
6	chr4:86688600-86696800	Weak transcription	Fetal Kidney	kidney
7	chr4:86693800-86697000	Weak transcription	Osteobl	bone
8	chr4:86694000-86697000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:86694000-86697200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr4:86694400-86697400	Enhancers	HUVEC	blood vessel
11	chr4:86694600-86697000	Weak transcription	NHDF-Ad	bronchial
12	chr4:86694800-86697600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:86695000-86697200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr4:86695400-86699200	Weak transcription	Gastric	stomach
15	chr4:86695400-86708200	Weak transcription	Pancreas	Pancrea
16	chr4:86695600-86696800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:86695600-86696800	Weak transcription	Fetal Heart	heart
18	chr4:86695600-86697400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr4:86695600-86697400	Weak transcription	Fetal Muscle Leg	muscle
20	chr4:86695600-86697600	Weak transcription	Esophagus	oesophagus
21	chr4:86695600-86699800	Weak transcription	Right Ventricle	heart
22	chr4:86695800-86697400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr4:86695800-86697400	Weak transcription	HMEC	breast
24	chr4:86696000-86697400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr4:86696000-86697400	Weak transcription	NHEK	skin
26	chr4:86696000-86697600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr4:86696000-86699400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr4:86696000-86703800	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr4:86696200-86696800	Weak transcription	Primary B cells from peripheral blood	blood
30	chr4:86696200-86699400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr4:86696400-86697800	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr4:86696400-86699600	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr4:86696400-86699600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr4:86696600-86697200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr4:86696600-86697200	Enhancers	Spleen	Spleen

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