Variant report

Variant	rs34390431
Chromosome Location	chr3:46464940-46464941
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	chr3:46463233..46466298-chr3:46475344..46477775,3	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2073493	0.81[ASN][1000 genomes]
rs3213480	0.80[ASN][1000 genomes]
rs61303774	0.81[ASN][1000 genomes]
rs7650157	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv3323840	chr3:46352348-46497196	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3389382	chr3:46352798-46496696	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1014624	chr3:46463424-46549188	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46455800-46496800	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr3:46456600-46469400	Weak transcription	Right Atrium	heart
3	chr3:46458600-46469400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr3:46459000-46465600	Strong transcription	Spleen	Spleen
5	chr3:46459400-46465000	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr3:46459400-46468600	Weak transcription	Fetal Intestine Small	intestine
7	chr3:46459400-46491600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr3:46460200-46477000	Weak transcription	Pancreas	Pancrea
9	chr3:46461800-46477000	Weak transcription	Gastric	stomach
10	chr3:46462800-46467800	Weak transcription	Fetal Heart	heart
11	chr3:46463800-46465400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr3:46463800-46465400	Enhancers	Lung	lung
13	chr3:46463800-46465800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr3:46463800-46466000	Enhancers	HMEC	breast
15	chr3:46463800-46466000	Enhancers	NHEK	skin
16	chr3:46464000-46465400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr3:46464000-46465400	Enhancers	Hela-S3	cervix
18	chr3:46464000-46465400	Enhancers	HSMM	muscle
19	chr3:46464400-46465200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr3:46464600-46467000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr3:46464600-46468000	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr3:46464800-46465200	Enhancers	Left Ventricle	heart
23	chr3:46464800-46465200	Enhancers	Right Ventricle	heart
24	chr3:46464800-46469400	Weak transcription	HSMMtube	muscle

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