Variant report

Variant	rs7695956
Chromosome Location	chr4:124570408-124570409
allele	A/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	EBF1	chr4:124570393-124570733	GM12878	blood:	n/a	n/a
2	CHD2	chr4:124570406-124570761	GM12878	blood:	n/a	n/a
3	MXI1	chr4:124570278-124570717	GM12878	blood:	n/a	n/a
4	BCL11A	chr4:124570328-124570744	GM12878	blood:	n/a	chr4:124570644-124570653
5	MAZ	chr4:124570368-124570756	GM12878	blood:	n/a	n/a
6	EBF1	chr4:124570209-124571043	GM12878	blood:	n/a	chr4:124570843-124570856 chr4:124570845-124570854 chr4:124570844-124570854
7	RCOR1	chr4:124570177-124570816	GM12878	blood:	n/a	n/a
8	EP300	chr4:124570357-124570967	GM12878	blood:	n/a	chr4:124570644-124570658
9	BHLHE40	chr4:124570383-124570766	GM12878	blood:	n/a	n/a
10	POLR2A	chr4:124570185-124571713	HepG2	liver:	n/a	n/a
11	PAX5	chr4:124570404-124570678	GM12878	blood:	n/a	n/a
12	EP300	chr4:124570376-124570874	GM12878	blood:	n/a	chr4:124570644-124570658
13	PAX5	chr4:124570401-124570728	GM12878	blood:	n/a	n/a
14	SPI1	chr4:124570242-124571030	GM12878	blood:	n/a	chr4:124570644-124570653
15	SP1	chr4:124570403-124570715	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
LINC01091	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12504652	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12510328	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12511622	0.81[EUR][1000 genomes]
rs12642333	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12651367	0.81[EUR][1000 genomes]
rs1425419	1.00[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1425420	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1820372	1.00[ASW][hapmap]
rs2162094	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2390564	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs57702188	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs58198006	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs59812456	0.90[ASN][1000 genomes]
rs6829627	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34581	chr4:124271321-125247395	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv469710	chr4:124474286-124623722	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv482747	chr4:124474286-124623722	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv830047	chr4:124504051-124699142	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv879873	chr4:124528452-124590869	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv879874	chr4:124550693-124607201	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7695956	ANKRD50	cis	parietal	SCAN
rs7695956	INTU	cis	parietal	SCAN

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124565200-124570600	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr4:124565200-124570600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr4:124565200-124570600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr4:124565400-124570600	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr4:124568600-124570800	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr4:124569600-124570800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr4:124569600-124571000	Enhancers	Fetal Muscle Leg	muscle
8	chr4:124569800-124570800	Enhancers	Psoas Muscle	Psoas
9	chr4:124569800-124570800	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr4:124569800-124571000	Enhancers	Fetal Intestine Small	intestine
11	chr4:124569800-124571200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:124569800-124571400	Enhancers	Primary B cells from peripheral blood	blood
13	chr4:124570000-124570600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr4:124570000-124570600	Enhancers	Stomach Smooth Muscle	stomach
15	chr4:124570000-124570600	Enhancers	NHDF-Ad	bronchial
16	chr4:124570000-124571000	Enhancers	Fetal Intestine Large	intestine
17	chr4:124570000-124571000	Enhancers	Fetal Kidney	kidney
18	chr4:124570000-124573200	Enhancers	Stomach Mucosa	stomach
19	chr4:124570000-124573600	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr4:124570200-124570600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:124570200-124570600	Enhancers	Muscle Satellite Cultured Cells	--
22	chr4:124570200-124570600	Flanking Active TSS	GM12878-XiMat	blood
23	chr4:124570200-124570800	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr4:124570200-124570800	Enhancers	NHLF	lung
25	chr4:124570200-124571000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr4:124570200-124571000	Enhancers	Colon Smooth Muscle	Colon
27	chr4:124570200-124571600	Enhancers	HSMM	muscle
28	chr4:124570200-124571600	Enhancers	NH-A	brain
29	chr4:124570200-124571800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr4:124570200-124571800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr4:124570200-124572800	Enhancers	Fetal Lung	lung
32	chr4:124570200-124573000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr4:124570400-124570600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr4:124570400-124570600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr4:124570400-124570600	Enhancers	Rectal Mucosa Donor 29	rectum
36	chr4:124570400-124570600	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr4:124570400-124570600	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr4:124570400-124570600	Enhancers	NHEK	skin
39	chr4:124570400-124570800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr4:124570400-124570800	Enhancers	Colonic Mucosa	Colon
41	chr4:124570400-124570800	Enhancers	Rectal Smooth Muscle	rectum
42	chr4:124570400-124570800	Flanking Active TSS	HepG2	liver
43	chr4:124570400-124570800	Flanking Active TSS	HMEC	breast
44	chr4:124570400-124571000	Enhancers	Primary hematopoietic stem cells	blood
45	chr4:124570400-124571000	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr4:124570400-124571000	Flanking Active TSS	Osteobl	bone
47	chr4:124570400-124571200	Enhancers	Duodenum Mucosa	Duodenum
48	chr4:124570400-124571200	Enhancers	Small Intestine	intestine
49	chr4:124570400-124571400	Enhancers	Brain Anterior Caudate	brain
50	chr4:124570400-124571400	Enhancers	Fetal Stomach	stomach

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