Variant report

Variant	rs1563000
Chromosome Location	chr4:86747929-86747930
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	KAP1	chr4:86747324-86747943	HEK293	kidney:	n/a	n/a
2	MXI1	chr4:86747288-86748162	IMR90	lung:	n/a	n/a
3	POLR2A	chr4:86747430-86747948	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:86747130..86748178-chr4:86885197..86886140,3	MCF-7	breast:

Variant related genes	Relation type
ARHGAP24	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11936781	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12498568	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12506184	0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17010961	0.92[CHB][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs17011002	0.88[ASN][1000 genomes]
rs17011024	0.92[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs17011039	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1823762	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57129466	0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs57343585	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60565316	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61163122	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72976750	0.88[ASN][1000 genomes]
rs72976751	0.88[ASN][1000 genomes]
rs72978881	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv879518	chr4:86739805-86778943	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv830000	chr4:86745341-86909059	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86736200-86748600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:86737600-86763200	Weak transcription	Primary B cells from cord blood	blood
3	chr4:86740200-86748600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr4:86740200-86748800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr4:86743200-86748800	Enhancers	Muscle Satellite Cultured Cells	--
6	chr4:86744200-86748600	Enhancers	Fetal Heart	heart
7	chr4:86744200-86748600	Enhancers	HSMM	muscle
8	chr4:86744600-86748200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr4:86744600-86748600	Enhancers	Adipose Nuclei	Adipose
10	chr4:86744800-86748600	Weak transcription	Pancreas	Pancrea
11	chr4:86745600-86748600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:86745600-86749400	Enhancers	HUVEC	blood vessel
13	chr4:86745800-86748600	Enhancers	NHDF-Ad	bronchial
14	chr4:86745800-86749400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr4:86746400-86748600	Enhancers	Fetal Intestine Large	intestine
16	chr4:86746400-86748600	Enhancers	Fetal Intestine Small	intestine
17	chr4:86746800-86748000	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr4:86747000-86748000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr4:86747000-86748000	Enhancers	Primary hematopoietic stem cells	blood
20	chr4:86747000-86748000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr4:86747000-86748000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr4:86747000-86748000	Enhancers	Brain Anterior Caudate	brain
23	chr4:86747000-86748200	Enhancers	Fetal Stomach	stomach
24	chr4:86747000-86748400	Enhancers	A549	lung
25	chr4:86747000-86748600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:86747000-86748600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr4:86747000-86748600	Enhancers	Liver	Liver
28	chr4:86747000-86748600	Enhancers	Fetal Muscle Leg	muscle
29	chr4:86747000-86748800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr4:86747000-86749400	Enhancers	H1 Cell Line	embryonic stem cell
31	chr4:86747200-86748000	Enhancers	Left Ventricle	heart
32	chr4:86747200-86748000	Flanking Active TSS	Stomach Smooth Muscle	stomach
33	chr4:86747200-86748200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr4:86747200-86748200	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr4:86747200-86748600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr4:86747200-86748600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr4:86747200-86748600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr4:86747200-86748600	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr4:86747200-86748600	Enhancers	NHLF	lung
40	chr4:86747200-86748800	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr4:86747200-86749400	Enhancers	Fetal Lung	lung
42	chr4:86747200-86749800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr4:86747400-86748000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr4:86747400-86748200	Enhancers	Brain Hippocampus Middle	brain
45	chr4:86747400-86748200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr4:86747400-86748200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr4:86747400-86748200	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr4:86747400-86748600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr4:86747400-86748600	Enhancers	Brain Germinal Matrix	brain
50	chr4:86747400-86748600	Enhancers	NH-A	brain

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