Variant report

Variant	rs11805246
Chromosome Location	chr1:84832806-84832807
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	chr1:84814848..84816393-chr1:84831127..84833005,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10493748	0.97[EUR][1000 genomes]
rs11805854	1.00[ASN][1000 genomes]
rs17131595	1.00[ASN][1000 genomes]
rs17131613	1.00[ASN][1000 genomes]
rs17477920	0.91[EUR][1000 genomes]
rs315541	0.84[EUR][1000 genomes]
rs315542	0.84[EUR][1000 genomes]
rs315547	0.81[EUR][1000 genomes]
rs575277	0.81[EUR][1000 genomes]
rs6667517	0.94[EUR][1000 genomes]
rs6669915	0.94[EUR][1000 genomes]
rs6670075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6675490	1.00[ASN][1000 genomes]
rs6675493	1.00[ASN][1000 genomes]
rs72942067	1.00[ASN][1000 genomes]
rs72942085	1.00[ASN][1000 genomes]
rs72942086	1.00[ASN][1000 genomes]
rs7521357	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv830426	chr1:84704924-84856229	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84828400-84836400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:84829800-84836800	Weak transcription	Brain Angular Gyrus	brain
3	chr1:84829800-84840400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr1:84830200-84833200	Enhancers	HUVEC	blood vessel
5	chr1:84830800-84833000	Enhancers	HSMM	muscle
6	chr1:84830800-84833200	Enhancers	Osteobl	bone
7	chr1:84830800-84833400	Enhancers	NHDF-Ad	bronchial
8	chr1:84830800-84833400	Enhancers	NHLF	lung
9	chr1:84830800-84833600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:84830800-84833600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:84831000-84833000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:84831000-84833200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:84831000-84833200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr1:84831000-84838000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:84831200-84833200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:84831200-84836400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr1:84831600-84833600	Enhancers	Esophagus	oesophagus
18	chr1:84831800-84835400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:84831800-84835600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:84832000-84833200	Enhancers	Muscle Satellite Cultured Cells	--
21	chr1:84832000-84838600	Weak transcription	Psoas Muscle	Psoas
22	chr1:84832400-84836600	Weak transcription	HSMMtube	muscle
23	chr1:84832600-84842800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:84832800-84833200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr1:84832800-84833600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:84832800-84836600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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