Variant report

Variant	rs12763969
Chromosome Location	chr10:49705989-49705990
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	POLR2A	chr10:49704933-49706121	U87	brain:	n/a	n/a
2	POLR2A	chr10:49704900-49706127	U87	brain:	n/a	n/a
3	JUN	chr10:49705031-49706491	K562	blood:	n/a	chr10:49705448-49705460 chr10:49705450-49705459 chr10:49705450-49705457 chr10:49706340-49706348 chr10:49705449-49705459 chr10:49705449-49705459 chr10:49705449-49705458

No.	Distal block	Cell Line	Cell type
1	chr10:49701131..49703834-chr10:49704395..49706982,4	K562	blood:
2	chr10:49700642..49703834-chr10:49704395..49707390,3	K562	blood:
3	chr10:49659900..49662821-chr10:49704182..49706648,2	K562	blood:
4	chr10:49698967..49701120-chr10:49704411..49706305,2	K562	blood:
5	chr10:49703894..49706471-chr10:49715514..49717897,2	K562	blood:

Variant related genes	Relation type
ARHGAP22	TF binding region
ENSG00000128805	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10776608	0.80[JPT][hapmap]
rs10776611	0.90[JPT][hapmap]
rs10776612	0.90[JPT][hapmap]
rs10857582	0.84[JPT][hapmap]
rs11101344	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11101345	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11101348	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11101349	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11101350	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11101351	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11101352	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11101353	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11817012	0.84[JPT][hapmap]
rs12220948	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12768718	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12777004	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2278676	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4012792	0.85[JPT][hapmap]
rs4838413	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4838414	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4838415	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4838416	0.90[JPT][hapmap]
rs4838608	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4838609	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4838610	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4838616	0.84[JPT][hapmap]
rs6537563	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6537564	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6537565	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7093185	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7098760	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7895625	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7896115	0.90[JPT][hapmap]
rs7898936	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7910327	0.91[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs935273	0.93[EUR][1000 genomes];0.94[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	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv895372	chr10:49576878-49933488	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv467191	chr10:49669142-49735563	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv550813	chr10:49669142-49735563	Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv550814	chr10:49705142-49735563	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49698000-49731200	Weak transcription	Aorta	Aorta
2	chr10:49699200-49706000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr10:49699200-49706400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr10:49700600-49706800	Enhancers	K562	blood
5	chr10:49701400-49706000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr10:49701400-49706000	Enhancers	HMEC	breast
7	chr10:49701600-49716400	Weak transcription	Right Atrium	heart
8	chr10:49702200-49707400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr10:49702400-49718200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr10:49703200-49706200	Genic enhancers	HSMM	muscle
11	chr10:49703200-49707000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr10:49703400-49706000	Enhancers	Placenta	Placenta
13	chr10:49703800-49706200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr10:49703800-49706200	Genic enhancers	Muscle Satellite Cultured Cells	--
15	chr10:49703800-49706400	Enhancers	HSMMtube	muscle
16	chr10:49704000-49706200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr10:49704200-49706000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr10:49704200-49706000	Enhancers	NH-A	brain
19	chr10:49704200-49706000	Enhancers	NHLF	lung
20	chr10:49704200-49707200	Enhancers	NHDF-Ad	bronchial
21	chr10:49704400-49706200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr10:49704400-49707800	Enhancers	Primary hematopoietic stem cells	blood
23	chr10:49704600-49706000	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr10:49704600-49706000	Enhancers	Fetal Stomach	stomach
25	chr10:49704600-49706200	Enhancers	Fetal Thymus	thymus
26	chr10:49704600-49706600	Enhancers	Ovary	ovary
27	chr10:49704800-49706000	Enhancers	Fetal Muscle Leg	muscle
28	chr10:49704800-49706200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr10:49704800-49706200	Enhancers	HUVEC	blood vessel
30	chr10:49704800-49706200	Genic enhancers	Osteobl	bone
31	chr10:49705000-49706000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr10:49705000-49706200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr10:49705000-49707200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr10:49705200-49706000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr10:49705200-49706000	Enhancers	Brain Anterior Caudate	brain
36	chr10:49705200-49706000	Enhancers	Stomach Smooth Muscle	stomach
37	chr10:49705200-49706000	Enhancers	Spleen	Spleen
38	chr10:49705400-49716600	Weak transcription	Brain Angular Gyrus	brain
39	chr10:49705600-49706800	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr10:49705600-49708400	Weak transcription	Esophagus	oesophagus
41	chr10:49705600-49715600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr10:49705800-49706000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr10:49705800-49706000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
44	chr10:49705800-49707600	Enhancers	Brain Cingulate Gyrus	brain
45	chr10:49705800-49713000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links