Variant report

Variant	rs2076969
Chromosome Location	chr11:76888175-76888176
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	chr11:76878152..76880429-chr11:76885737..76888669,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10899355	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11237106	0.82[AFR][1000 genomes]
rs12577334	0.86[YRI][hapmap]
rs12805353	1.00[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];0.84[JPT][hapmap];0.85[TSI][hapmap];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12805873	1.00[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];0.84[JPT][hapmap];0.91[TSI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2276283	0.84[AFR][1000 genomes]
rs2276285	0.87[ASW][hapmap];0.93[LWK][hapmap];0.83[MKK][hapmap];0.86[YRI][hapmap]
rs3781691	0.80[LWK][hapmap]
rs4945156	0.84[CHB][hapmap];0.84[JPT][hapmap]
rs6592711	1.00[CEU][hapmap];0.83[CHB][hapmap];0.89[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1816632	chr11:76751285-76927014	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	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
rs2076969	MYO7A	cis	multi-tissue	Pritchard

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76869400-76889200	Weak transcription	Pancreas	Pancrea
2	chr11:76880400-76916600	Weak transcription	Right Atrium	heart
3	chr11:76883200-76889200	Weak transcription	Gastric	stomach
4	chr11:76883400-76889800	Weak transcription	Ovary	ovary
5	chr11:76883800-76898400	Weak transcription	Colonic Mucosa	Colon
6	chr11:76884000-76888200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr11:76885200-76896000	Strong transcription	Fetal Intestine Large	intestine
8	chr11:76885400-76896000	Strong transcription	Fetal Intestine Small	intestine
9	chr11:76885600-76890000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr11:76885800-76889800	Weak transcription	HepG2	liver
11	chr11:76886000-76894600	Weak transcription	Brain Substantia Nigra	brain
12	chr11:76886200-76888400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:76886400-76888200	Weak transcription	Liver	Liver
14	chr11:76886800-76888600	Enhancers	Fetal Muscle Trunk	muscle
15	chr11:76887000-76888600	Enhancers	Adipose Nuclei	Adipose
16	chr11:76887000-76888600	Enhancers	Placenta	Placenta
17	chr11:76887000-76895000	Weak transcription	Stomach Smooth Muscle	stomach
18	chr11:76887400-76888400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr11:76887400-76890000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr11:76887400-76890000	Weak transcription	Right Ventricle	heart
21	chr11:76887400-76891600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr11:76887600-76888200	Weak transcription	Spleen	Spleen
23	chr11:76887600-76891600	Weak transcription	Brain Hippocampus Middle	brain
24	chr11:76887600-76902600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr11:76887800-76888200	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr11:76887800-76888600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr11:76887800-76890000	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr11:76887800-76890000	Weak transcription	HSMMtube	muscle
29	chr11:76887800-76894000	Weak transcription	Brain Anterior Caudate	brain
30	chr11:76887800-76899600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr11:76887800-76902800	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr11:76888000-76889000	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr11:76888000-76890000	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr11:76888000-76890000	Weak transcription	Fetal Muscle Leg	muscle

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