Variant report

Variant	rs9847963
Chromosome Location	chr3:119044369-119044370
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	CTCF	chr3:119044280-119044430	GM12864	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:119032938..119036654-chr3:119043766..119046984,5	MCF-7	breast:
2	chr3:119032410..119034718-chr3:119043849..119046722,2	K562	blood:

Variant related genes	Relation type
ARHGAP31-AS1	TF binding region

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10511386	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10934490	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12497738	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13314464	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1375135	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1448434	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2278781	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4687994	0.84[EUR][1000 genomes]
rs58568360	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62265236	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62265237	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6438518	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6438519	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6438520	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6438521	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6438522	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6438523	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6762580	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6785727	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6786522	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6789881	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6799733	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7610546	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7611832	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7619210	0.83[EUR][1000 genomes]
rs7644570	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7649480	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7649930	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9822211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9825078	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9834750	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9861372	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9861688	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9877740	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[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	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv829694	chr3:119011488-119153579	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119042600-119044400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:119042600-119044400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
3	chr3:119042600-119045200	Weak transcription	Brain Substantia Nigra	brain
4	chr3:119042600-119047200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr3:119042600-119047800	Weak transcription	Ovary	ovary
6	chr3:119042600-119048000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr3:119042600-119048000	Weak transcription	Brain Angular Gyrus	brain
8	chr3:119042600-119048000	Weak transcription	NH-A	brain
9	chr3:119042600-119048200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr3:119042600-119048400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:119042600-119048400	Weak transcription	Aorta	Aorta
12	chr3:119042600-119048600	Weak transcription	HSMM	muscle
13	chr3:119042600-119050000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr3:119042600-119050200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr3:119042600-119050400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr3:119042600-119050400	Weak transcription	HSMMtube	muscle
17	chr3:119042600-119050400	Weak transcription	NHEK	skin
18	chr3:119042600-119054000	Weak transcription	NHLF	lung
19	chr3:119042600-119055600	Weak transcription	Fetal Brain Male	brain
20	chr3:119042800-119044400	Enhancers	H1 Cell Line	embryonic stem cell
21	chr3:119042800-119044400	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr3:119042800-119044400	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr3:119042800-119044400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr3:119042800-119045200	Weak transcription	Placenta	Placenta
25	chr3:119042800-119045400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr3:119042800-119045600	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr3:119042800-119046600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr3:119042800-119047000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr3:119042800-119048000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr3:119042800-119048000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr3:119042800-119048000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr3:119042800-119048000	Weak transcription	Fetal Lung	lung
33	chr3:119042800-119048000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr3:119042800-119048000	Weak transcription	Right Atrium	heart
35	chr3:119042800-119048000	Weak transcription	Stomach Smooth Muscle	stomach
36	chr3:119042800-119050400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr3:119042800-119050600	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr3:119042800-119051600	Weak transcription	Duodenum Mucosa	Duodenum
39	chr3:119042800-119051600	Weak transcription	Spleen	Spleen
40	chr3:119042800-119052800	Weak transcription	Colon Smooth Muscle	Colon
41	chr3:119042800-119053000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr3:119042800-119056000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr3:119042800-119070600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr3:119042800-119072000	Weak transcription	Thymus	Thymus
45	chr3:119043000-119044400	Enhancers	H9 Cell Line	embryonic stem cell
46	chr3:119043000-119044400	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr3:119043000-119045200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr3:119043000-119045200	Weak transcription	Adipose Nuclei	Adipose
49	chr3:119043000-119045200	Weak transcription	Fetal Thymus	thymus
50	chr3:119043000-119045400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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