Variant report

Variant	rs62137610
Chromosome Location	chr2:53982780-53982781
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10490468	0.87[ASN][1000 genomes]
rs11897282	0.88[ASN][1000 genomes]
rs13408029	0.85[ASN][1000 genomes]
rs17045176	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17045203	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17520505	0.83[ASN][1000 genomes]
rs17520854	0.85[AMR][1000 genomes]
rs17521008	0.89[ASN][1000 genomes]
rs2287340	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2302797	0.88[ASN][1000 genomes]
rs2542572	0.81[ASN][1000 genomes]
rs2542573	0.82[ASN][1000 genomes]
rs2542580	0.81[ASN][1000 genomes]
rs2542581	0.80[ASN][1000 genomes]
rs2542582	0.85[ASN][1000 genomes]
rs2542583	0.86[ASN][1000 genomes]
rs2542589	0.83[ASN][1000 genomes]
rs2542590	0.83[ASN][1000 genomes]
rs2542591	0.83[ASN][1000 genomes]
rs2543629	0.82[ASN][1000 genomes]
rs2692522	0.82[ASN][1000 genomes]
rs2692530	0.86[ASN][1000 genomes]
rs2692533	0.90[ASN][1000 genomes]
rs2692535	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2909262	0.88[ASN][1000 genomes]
rs2949813	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35772199	0.83[ASN][1000 genomes]
rs3770394	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3770395	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3770397	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3770399	0.88[ASN][1000 genomes]
rs3922262	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4116709	0.83[ASN][1000 genomes]
rs55897904	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58326257	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62137573	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62137602	0.91[ASN][1000 genomes]
rs62137606	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62137611	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62137612	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6730006	0.88[ASN][1000 genomes]
rs719127	0.85[ASN][1000 genomes]
rs72901256	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7600817	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs805435	0.81[ASN][1000 genomes]

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	nsv1003263	chr2:53863287-54055359	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv535720	chr2:53863287-54055359	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv834058	chr2:53900674-54072011	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1009829	chr2:53980562-54051927	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv979005	chr2:53982124-53989634	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53910000-53994000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr2:53910200-53990600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr2:53918400-53994000	Weak transcription	Fetal Heart	heart
4	chr2:53936800-53985400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr2:53937000-53983800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:53937000-53994400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr2:53937200-53983600	Weak transcription	Right Ventricle	heart
8	chr2:53937200-53994200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr2:53937400-53990200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr2:53937400-53994400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr2:53938400-53982800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr2:53938400-53983400	Weak transcription	HSMMtube	muscle
13	chr2:53938400-53992400	Weak transcription	K562	blood
14	chr2:53943800-53983600	Weak transcription	Ovary	ovary
15	chr2:53943800-53983600	Weak transcription	Thymus	Thymus
16	chr2:53943800-53983800	Weak transcription	Left Ventricle	heart
17	chr2:53952400-53983600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:53954800-53983800	Weak transcription	Lung	lung
19	chr2:53956000-53983400	Weak transcription	Fetal Brain Male	brain
20	chr2:53956200-53983000	Weak transcription	Fetal Muscle Leg	muscle
21	chr2:53957000-53983800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:53957800-53983400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr2:53958200-53994400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr2:53960400-53983400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr2:53962200-53983400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr2:53963000-53994000	Weak transcription	A549	lung
27	chr2:53964000-53983600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr2:53964600-53983000	Weak transcription	Fetal Lung	lung
29	chr2:53967200-53990200	Weak transcription	Gastric	stomach
30	chr2:53968600-53983400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr2:53969400-53983400	Weak transcription	Brain Angular Gyrus	brain
32	chr2:53969600-53983400	Weak transcription	Brain Cingulate Gyrus	brain
33	chr2:53969600-53983600	Weak transcription	Brain Anterior Caudate	brain
34	chr2:53969600-53983600	Weak transcription	Brain Hippocampus Middle	brain
35	chr2:53970000-53983600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:53971200-53983800	Weak transcription	Fetal Intestine Small	intestine
37	chr2:53971200-53990200	Weak transcription	Pancreas	Pancrea
38	chr2:53973400-53994400	Weak transcription	Colonic Mucosa	Colon
39	chr2:53973600-53983000	Weak transcription	Fetal Brain Female	brain
40	chr2:53974600-53983800	Weak transcription	Fetal Stomach	stomach
41	chr2:53975200-53983000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr2:53975400-53983600	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr2:53975400-53983800	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr2:53975600-53983600	Weak transcription	Duodenum Mucosa	Duodenum
45	chr2:53975600-53989200	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr2:53975600-53990200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr2:53975800-53983400	Weak transcription	Fetal Muscle Trunk	muscle
48	chr2:53975800-53994400	Weak transcription	Fetal Kidney	kidney
49	chr2:53976000-53983400	Weak transcription	Fetal Intestine Large	intestine
50	chr2:53976600-53988600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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