Variant report

Variant	rs10790343
Chromosome Location	chr11:119630480-119630481
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:119617140..119619189-chr11:119629474..119631387,2	MCF-7	breast:
2	chr11:119622344..119624091-chr11:119630061..119631916,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10790342	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10790344	0.84[CEU][hapmap];0.80[JPT][hapmap]
rs10892448	0.95[EUR][1000 genomes]
rs10892451	0.96[ASN][1000 genomes]
rs10892452	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217458	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11217460	0.89[EUR][1000 genomes]
rs11217466	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11217471	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12365133	0.92[EUR][1000 genomes]
rs4317995	0.89[EUR][1000 genomes]
rs4351828	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7110679	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7124166	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7131676	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7949076	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898421	chr11:119499014-119631325	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv898423	chr11:119541332-119659753	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1051769	chr11:119572865-119630769	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv1037739	chr11:119592989-119630641	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10790343	HSPA8	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119613600-119636000	Weak transcription	Right Atrium	heart
2	chr11:119623800-119631800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr11:119625800-119635000	Weak transcription	Pancreas	Pancrea
4	chr11:119626600-119631200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:119626800-119634200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:119628600-119635000	Weak transcription	Brain Angular Gyrus	brain
7	chr11:119628800-119631000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr11:119629000-119630600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr11:119629000-119630600	Enhancers	NHDF-Ad	bronchial
10	chr11:119629000-119630800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:119629000-119631000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr11:119629000-119631000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr11:119629200-119630800	Enhancers	GM12878-XiMat	blood
14	chr11:119629200-119631000	Enhancers	HMEC	breast
15	chr11:119629200-119631200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:119629200-119631400	Weak transcription	Brain Germinal Matrix	brain
17	chr11:119629400-119630600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr11:119629400-119630800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr11:119629400-119631400	Enhancers	HSMMtube	muscle
20	chr11:119629600-119630600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr11:119629600-119630600	Enhancers	Muscle Satellite Cultured Cells	--
22	chr11:119629600-119630600	Enhancers	Hela-S3	cervix
23	chr11:119629600-119630800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr11:119629600-119630800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr11:119629600-119630800	Bivalent Enhancer	Duodenum Mucosa	Duodenum
26	chr11:119629800-119630600	Enhancers	Stomach Mucosa	stomach
27	chr11:119629800-119631000	Enhancers	K562	blood
28	chr11:119629800-119631600	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr11:119629800-119631600	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr11:119629800-119631800	Enhancers	Liver	Liver
31	chr11:119630000-119630600	Flanking Active TSS	Osteobl	bone
32	chr11:119630000-119630800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr11:119630000-119630800	Flanking Active TSS	HSMM	muscle
34	chr11:119630000-119631000	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr11:119630000-119631000	Enhancers	Esophagus	oesophagus
36	chr11:119630000-119631000	Enhancers	Fetal Muscle Leg	muscle
37	chr11:119630000-119631200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr11:119630200-119630600	Enhancers	NHLF	lung
39	chr11:119630200-119630800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr11:119630400-119630600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr11:119630400-119630600	Flanking Active TSS	NH-A	brain
42	chr11:119630400-119630800	Bivalent Enhancer	NHEK	skin
43	chr11:119630400-119631600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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