Variant report

Variant	rs34435527
Chromosome Location	chr2:64623838-64623839
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	chr2:64622864..64624818-chr2:64630224..64632897,2	K562	blood:
2	chr2:64622523..64624762-chr2:64630271..64633371,3	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs35095265	1.00[AFR][1000 genomes]
rs71424121	0.90[AMR][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	nsv1013132	chr2:64235175-64631084	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1006553	chr2:64339907-64764771	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv834244	chr2:64480943-64646259	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
4	nsv834245	chr2:64623049-64816185	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64595600-64627800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:64610600-64627200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr2:64614400-64628200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:64614600-64627600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:64617200-64626600	Weak transcription	Pancreas	Pancrea
6	chr2:64618800-64627800	Weak transcription	Psoas Muscle	Psoas
7	chr2:64619600-64626600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr2:64620000-64626600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:64620200-64627000	Weak transcription	Esophagus	oesophagus
10	chr2:64620200-64628200	Weak transcription	Gastric	stomach
11	chr2:64620600-64630200	Weak transcription	Aorta	Aorta
12	chr2:64620800-64625400	Weak transcription	Stomach Mucosa	stomach
13	chr2:64621000-64627400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr2:64621600-64628000	Weak transcription	Small Intestine	intestine
15	chr2:64621800-64627800	Weak transcription	NHEK	skin
16	chr2:64622000-64625200	Weak transcription	Fetal Intestine Small	intestine
17	chr2:64622000-64626400	Weak transcription	HepG2	liver
18	chr2:64622000-64627800	Weak transcription	Duodenum Mucosa	Duodenum
19	chr2:64622200-64628200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr2:64623000-64625200	Weak transcription	Fetal Intestine Large	intestine
21	chr2:64623000-64626400	Weak transcription	Spleen	Spleen

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