Variant report

Variant	rs7930152
Chromosome Location	chr11:73235677-73235678
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73234270..73236131-chr11:73239079..73240678,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10501411	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11544311	0.83[AMR][1000 genomes]
rs11820577	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11822984	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12277924	0.82[EUR][1000 genomes]
rs12290785	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17244596	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17244602	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17244616	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17310361	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17310374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56742470	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56857598	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56884659	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57491850	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57673166	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58334887	1.00[ASN][1000 genomes]
rs58564192	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592526	0.91[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7101561	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7110369	1.00[ASN][1000 genomes]
rs7114376	0.80[EUR][1000 genomes]
rs7115055	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7129546	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs724111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73543000	1.00[ASN][1000 genomes]
rs73544710	1.00[ASN][1000 genomes]
rs73544711	1.00[ASN][1000 genomes]
rs73544716	1.00[ASN][1000 genomes]
rs73544720	1.00[ASN][1000 genomes]
rs73544729	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73544767	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73544783	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73546720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73546735	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73548680	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73548688	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73548693	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73550316	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7930907	0.88[AFR][1000 genomes]
rs7931767	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7933355	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7935948	0.82[EUR][1000 genomes]
rs7938391	0.82[EUR][1000 genomes]
rs7944346	0.82[EUR][1000 genomes]
rs7945825	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7950375	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7951072	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	esv3395161	chr11:73084616-73461577	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv1048171	chr11:73210060-73271831	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7930152	ARHGEF17	cis	Whole Blood	GTEx

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73202400-73240000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:73205000-73239600	Weak transcription	Primary B cells from cord blood	blood
3	chr11:73205600-73236400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr11:73205800-73241400	Weak transcription	Pancreas	Pancrea
5	chr11:73219200-73241400	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr11:73221200-73238000	Weak transcription	Psoas Muscle	Psoas
7	chr11:73221400-73238200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr11:73221800-73239600	Weak transcription	Liver	Liver
9	chr11:73226400-73239600	Weak transcription	Fetal Stomach	stomach
10	chr11:73230800-73239600	Weak transcription	NHDF-Ad	bronchial
11	chr11:73232600-73239800	Weak transcription	Thymus	Thymus
12	chr11:73232600-73249400	Weak transcription	Brain Germinal Matrix	brain
13	chr11:73233000-73236400	Weak transcription	Brain Anterior Caudate	brain
14	chr11:73233000-73237600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr11:73233000-73237600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr11:73233000-73238000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr11:73233000-73238200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr11:73233000-73239600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr11:73233000-73239600	Weak transcription	Primary B cells from peripheral blood	blood
20	chr11:73233000-73239600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr11:73233000-73240000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr11:73233000-73241400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr11:73233200-73237400	Weak transcription	Brain Hippocampus Middle	brain
24	chr11:73233200-73237400	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr11:73233200-73237600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr11:73233200-73238000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr11:73233200-73238000	Weak transcription	Brain Angular Gyrus	brain
28	chr11:73233200-73238000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr11:73233200-73238000	Weak transcription	NH-A	brain
30	chr11:73233200-73238200	Weak transcription	Osteobl	bone
31	chr11:73233400-73237400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr11:73233400-73237400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr11:73233400-73238200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr11:73233400-73239200	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr11:73233400-73239200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr11:73233800-73237600	Weak transcription	Primary T cells from cord blood	blood
37	chr11:73234200-73237400	Weak transcription	Brain Substantia Nigra	brain
38	chr11:73234600-73236600	Weak transcription	Dnd41	blood
39	chr11:73235000-73238000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr11:73235200-73239600	Weak transcription	Primary hematopoietic stem cells	blood
41	chr11:73235400-73236200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr11:73235400-73237400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr11:73235600-73235800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links