Variant report

Variant	rs11038
Chromosome Location	chr12:119632307-119632308
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10774488	0.95[GIH][hapmap];0.84[JPT][hapmap]
rs10849632	0.85[ASN][1000 genomes]
rs11064698	0.81[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6490244	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7303610	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7969603	0.81[CEU][hapmap];0.95[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.82[ASN][1000 genomes]
rs7972652	0.81[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.84[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	nsv1047036	chr12:119477583-119992640	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv899550	chr12:119581131-119654315	Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv983367	chr12:119632173-119636306	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11038	HSPB8	cis	cerebellum	SCAN

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119618800-119639600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:119619200-119639000	Weak transcription	Colonic Mucosa	Colon
3	chr12:119620000-119634000	Weak transcription	HUVEC	blood vessel
4	chr12:119620000-119636200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr12:119620000-119639200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr12:119620000-119639600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr12:119627000-119636400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:119627000-119641600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr12:119627200-119633600	Weak transcription	NH-A	brain
10	chr12:119627200-119634400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr12:119627200-119639000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr12:119627400-119635600	Weak transcription	Osteobl	bone
13	chr12:119627600-119632600	Strong transcription	Lung	lung
14	chr12:119627600-119641600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr12:119627800-119632400	Strong transcription	HSMMtube	muscle
16	chr12:119627800-119632800	Strong transcription	Adipose Nuclei	Adipose
17	chr12:119627800-119646600	Weak transcription	Gastric	stomach
18	chr12:119628200-119636200	Weak transcription	Brain Anterior Caudate	brain
19	chr12:119628400-119641200	Weak transcription	Fetal Heart	heart
20	chr12:119629200-119633400	Strong transcription	Fetal Muscle Leg	muscle
21	chr12:119629200-119633400	Strong transcription	Right Ventricle	heart
22	chr12:119629200-119634400	Strong transcription	Skeletal Muscle Male	skeletal muscle
23	chr12:119629200-119634400	Strong transcription	Stomach Smooth Muscle	stomach
24	chr12:119629200-119634600	Strong transcription	Placenta	Placenta
25	chr12:119629200-119635200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr12:119629400-119633400	Strong transcription	Left Ventricle	heart
27	chr12:119629400-119633800	Strong transcription	Colon Smooth Muscle	Colon
28	chr12:119629400-119633800	Strong transcription	Skeletal Muscle Female	skeletal muscle
29	chr12:119629600-119636400	Weak transcription	Right Atrium	heart
30	chr12:119630800-119632400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr12:119630800-119632400	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr12:119630800-119634400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr12:119631000-119632800	Strong transcription	Muscle Satellite Cultured Cells	--
34	chr12:119631000-119633200	Strong transcription	Ovary	ovary
35	chr12:119631000-119633200	Strong transcription	Placenta Amnion	Placenta Amnion
36	chr12:119631000-119633400	Strong transcription	Spleen	Spleen
37	chr12:119631000-119633800	Strong transcription	Fetal Muscle Trunk	muscle
38	chr12:119631200-119632400	Strong transcription	Brain Cingulate Gyrus	brain
39	chr12:119631200-119639200	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr12:119631400-119632400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr12:119631400-119632400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr12:119631400-119632400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr12:119631400-119632400	Strong transcription	HSMM	muscle
44	chr12:119631400-119633800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr12:119631400-119633800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr12:119631400-119634800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr12:119631600-119632400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr12:119631600-119633400	Strong transcription	Esophagus	oesophagus
49	chr12:119631800-119632400	Strong transcription	Brain Hippocampus Middle	brain
50	chr12:119632000-119632400	ZNF genes & repeats	Aorta	Aorta

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