Variant report

Variant	rs12477797
Chromosome Location	chr2:205991157-205991158
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10175054	0.85[ASN][1000 genomes]
rs10932097	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1100394	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11899425	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12465268	0.94[AFR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12466722	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12466813	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12477364	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12694018	0.80[ASN][1000 genomes]
rs1368942	0.93[AFR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1510774	0.95[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap]
rs16836942	0.89[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs16836950	0.93[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs16836961	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16837000	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16837012	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16837019	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16837021	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1897781	0.93[EUR][1000 genomes]
rs2289023	0.94[AFR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35505346	0.82[ASN][1000 genomes]
rs4675499	0.86[EUR][1000 genomes]
rs4675501	0.83[EUR][1000 genomes]
rs62172701	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73057184	0.93[EUR][1000 genomes]
rs7560015	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7565979	0.93[AFR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs849106	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs849107	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs849110	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs849116	0.86[ASN][1000 genomes]
rs849120	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs849121	0.86[ASN][1000 genomes]
rs849124	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998485	chr2:205407813-206184006	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv536122	chr2:205407813-206184006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1010210	chr2:205489653-206076013	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv16739	chr2:205898770-206127984	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
5	nsv1000779	chr2:205969138-206064554	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
6	nsv1009424	chr2:205969138-206078240	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
7	nsv525418	chr2:205969220-206077607	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
8	nsv875729	chr2:205972555-206027314	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205953400-206007200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:205970000-206026000	Weak transcription	HSMMtube	muscle
3	chr2:205973400-205994400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:205973400-205998200	Weak transcription	Psoas Muscle	Psoas
5	chr2:205976800-206024400	Weak transcription	Aorta	Aorta
6	chr2:205977200-206000200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr2:205978800-205992200	Weak transcription	Fetal Stomach	stomach
8	chr2:205979400-206014600	Weak transcription	Pancreas	Pancrea
9	chr2:205980600-205994000	Weak transcription	Gastric	stomach
10	chr2:205982400-205997400	Weak transcription	Fetal Muscle Leg	muscle
11	chr2:205982600-205994600	Weak transcription	Colon Smooth Muscle	Colon
12	chr2:205982600-206003000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr2:205982800-205992200	Weak transcription	Fetal Intestine Small	intestine
14	chr2:205984600-205998000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr2:205984800-205992400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr2:205985000-205992400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:205985000-205992400	Weak transcription	Liver	Liver
18	chr2:205986000-206004400	Weak transcription	Stomach Mucosa	stomach
19	chr2:205989000-206003400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:205989200-205991800	Weak transcription	Brain Anterior Caudate	brain
21	chr2:205989400-205992600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr2:205990000-205993600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr2:205990200-205996800	Weak transcription	Placenta	Placenta
24	chr2:205990400-205991200	Strong transcription	Stomach Smooth Muscle	stomach
25	chr2:205990600-206003000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:205990600-206005600	Weak transcription	Left Ventricle	heart
27	chr2:205990800-205994000	Weak transcription	Ovary	ovary
28	chr2:205990800-205998000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:205991000-205992000	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr2:205991000-205993200	Weak transcription	Fetal Lung	lung
31	chr2:205991000-206002800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr2:205991000-206004200	Weak transcription	Adipose Nuclei	Adipose
33	chr2:205991000-206004600	Weak transcription	Fetal Intestine Large	intestine
34	chr2:205991000-206036600	Weak transcription	HSMM	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links