Variant report

Variant	rs17420011
Chromosome Location	chr7:108008512-108008513
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs2267886	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3348839	chr7:107377311-108286538	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
2	nsv831090	chr7:107786650-108011196	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
3	nsv888942	chr7:107893695-108055858	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv888943	chr7:107893695-108058574	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv1030425	chr7:107910716-108041036	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17420011	KCNJ2	trans	lymphoblastoid	seeQTL
rs17420011	NRCAM	Cis_1M	lymphoblastoid	RTeQTL
rs17420011	LRRN3	cis	cerebellum	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107999200-108008800	Weak transcription	Brain Anterior Caudate	brain
2	chr7:107999200-108011200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:107999600-108009000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:108004000-108016600	Weak transcription	Pancreas	Pancrea
5	chr7:108004400-108016600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr7:108007200-108009400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr7:108007400-108009400	Enhancers	HUVEC	blood vessel
8	chr7:108008000-108008600	Flanking Active TSS	A549	lung
9	chr7:108008000-108009400	Enhancers	Muscle Satellite Cultured Cells	--
10	chr7:108008000-108010600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:108008400-108008600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr7:108008400-108008800	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr7:108008400-108009200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:108008400-108009200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:108008400-108009400	Enhancers	Brain Angular Gyrus	brain
16	chr7:108008400-108009400	Enhancers	Brain Cingulate Gyrus	brain
17	chr7:108008400-108009400	Enhancers	Fetal Brain Male	brain
18	chr7:108008400-108009400	Enhancers	HSMM	muscle

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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