Variant report

Variant	rs6490244
Chromosome Location	chr12:119629032-119629033
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:119625475..119628419-chr12:119629003..119631507,2	MCF-7	breast:
2	chr12:119628109..119630977-chr12:119631135..119633567,2	K562	blood:
3	chr12:119615382..119618298-chr12:119627712..119631261,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000213144	Chromatin interaction
ENSG00000152137	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10774488	0.92[GIH][hapmap];0.84[JPT][hapmap]
rs10849632	0.89[ASN][1000 genomes]
rs11038	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]
rs11064698	0.81[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7303610	0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7969603	0.81[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.85[ASN][1000 genomes]
rs7972652	0.81[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6490244	HSPB8	cis	cerebellum	SCAN

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119618800-119631000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:119618800-119639600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:119619200-119631600	Weak transcription	Pancreas	Pancrea
4	chr12:119619200-119639000	Weak transcription	Colonic Mucosa	Colon
5	chr12:119620000-119634000	Weak transcription	HUVEC	blood vessel
6	chr12:119620000-119636200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr12:119620000-119639200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr12:119620000-119639600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr12:119621200-119632200	Weak transcription	Fetal Thymus	thymus
10	chr12:119621800-119629200	Genic enhancers	Placenta	Placenta
11	chr12:119623800-119629200	Genic enhancers	Fetal Muscle Leg	muscle
12	chr12:119624200-119629400	Genic enhancers	Left Ventricle	heart
13	chr12:119624400-119629200	Genic enhancers	Rectal Smooth Muscle	rectum
14	chr12:119624400-119629400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
15	chr12:119624600-119629400	Genic enhancers	Colon Smooth Muscle	Colon
16	chr12:119625000-119630600	Weak transcription	NHLF	lung
17	chr12:119625400-119629600	Enhancers	Right Atrium	heart
18	chr12:119626000-119629200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
19	chr12:119627000-119629800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr12:119627000-119630800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr12:119627000-119631400	Weak transcription	HSMM	muscle
22	chr12:119627000-119631600	Weak transcription	Brain Substantia Nigra	brain
23	chr12:119627000-119631800	Weak transcription	Brain Hippocampus Middle	brain
24	chr12:119627000-119632000	Strong transcription	Aorta	Aorta
25	chr12:119627000-119636400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr12:119627000-119641600	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr12:119627200-119633600	Weak transcription	NH-A	brain
28	chr12:119627200-119634400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr12:119627200-119639000	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr12:119627400-119631400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr12:119627400-119635600	Weak transcription	Osteobl	bone
32	chr12:119627600-119629600	Enhancers	Spleen	Spleen
33	chr12:119627600-119629800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr12:119627600-119632600	Strong transcription	Lung	lung
35	chr12:119627600-119641600	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr12:119627800-119631000	Weak transcription	Ovary	ovary
37	chr12:119627800-119632000	Weak transcription	Fetal Lung	lung
38	chr12:119627800-119632400	Strong transcription	HSMMtube	muscle
39	chr12:119627800-119632800	Strong transcription	Adipose Nuclei	Adipose
40	chr12:119627800-119646600	Weak transcription	Gastric	stomach
41	chr12:119628000-119631400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr12:119628200-119629200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr12:119628200-119629200	Strong transcription	Fetal Muscle Trunk	muscle
44	chr12:119628200-119631400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr12:119628200-119631600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr12:119628200-119632000	Weak transcription	Fetal Stomach	stomach
47	chr12:119628200-119636200	Weak transcription	Brain Anterior Caudate	brain
48	chr12:119628400-119629200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr12:119628400-119629200	Genic enhancers	Stomach Smooth Muscle	stomach
50	chr12:119628400-119641200	Weak transcription	Fetal Heart	heart

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