Variant report

Variant	rs12996815
Chromosome Location	chr2:173197762-173197763
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs35427086	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4246620	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4290625	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4350710	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4395225	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6433351	1.00[CEU][hapmap];0.82[CHB][hapmap];0.91[JPT][hapmap];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6714434	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6715062	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6717736	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6723279	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6728360	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6757748	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7425380	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7577264	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7594561	0.82[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv3034	chr2:173160295-173200113	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173191200-173197800	Weak transcription	HSMMtube	muscle
2	chr2:173195200-173197800	Weak transcription	Fetal Lung	lung
3	chr2:173195200-173199000	Weak transcription	Colonic Mucosa	Colon
4	chr2:173195400-173197800	Weak transcription	Psoas Muscle	Psoas
5	chr2:173195400-173197800	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr2:173195400-173198000	Weak transcription	Spleen	Spleen
7	chr2:173195400-173199800	Weak transcription	Lung	lung
8	chr2:173195400-173199800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:173195400-173204000	Weak transcription	Left Ventricle	heart
10	chr2:173195400-173204000	Weak transcription	Right Ventricle	heart
11	chr2:173195800-173199600	Weak transcription	Stomach Mucosa	stomach
12	chr2:173196000-173198000	Weak transcription	Fetal Intestine Large	intestine
13	chr2:173196000-173199600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr2:173196200-173197800	Weak transcription	Duodenum Mucosa	Duodenum
15	chr2:173196200-173197800	Weak transcription	Fetal Intestine Small	intestine
16	chr2:173196200-173198000	Weak transcription	Small Intestine	intestine
17	chr2:173196400-173198400	Enhancers	Pancreas	Pancrea
18	chr2:173196800-173198000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:173196800-173198800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:173197200-173198600	Enhancers	Fetal Thymus	thymus
21	chr2:173197200-173198800	Enhancers	Fetal Muscle Leg	muscle
22	chr2:173197400-173197800	Weak transcription	Gastric	stomach
23	chr2:173197400-173198600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:173197400-173198600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:173197400-173198800	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr2:173197400-173198800	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr2:173197600-173198200	Enhancers	Brain Cingulate Gyrus	brain
28	chr2:173197600-173198400	Enhancers	Brain Substantia Nigra	brain
29	chr2:173197600-173204000	Weak transcription	Fetal Muscle Trunk	muscle
30	chr2:173197600-173204400	Weak transcription	Thymus	Thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links