Variant report

Variant	rs10185375
Chromosome Location	chr2:53978706-53978707
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10181752	0.85[ASN][1000 genomes]
rs10181876	0.93[ASN][1000 genomes]
rs10187718	0.95[ASN][1000 genomes]
rs10190578	0.91[CHB][hapmap];0.89[ASN][1000 genomes]
rs10191950	0.93[ASN][1000 genomes]
rs10193711	0.88[ASN][1000 genomes]
rs10197062	0.85[ASN][1000 genomes]
rs10200897	0.93[ASN][1000 genomes]
rs10210726	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10211188	0.95[ASN][1000 genomes]
rs10211650	0.93[ASN][1000 genomes]
rs10490470	0.91[CHB][hapmap];0.90[ASN][1000 genomes]
rs11684574	0.87[ASN][1000 genomes]
rs12612589	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12613682	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12616124	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12616774	0.91[CHB][hapmap];0.95[ASN][1000 genomes]
rs12617315	0.82[EUR][1000 genomes]
rs12617360	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12617668	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12618276	0.86[AMR][1000 genomes]
rs12618587	0.92[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12618833	0.85[JPT][hapmap];0.80[EUR][1000 genomes]
rs12620190	0.92[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12620208	0.92[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12620325	0.94[ASN][1000 genomes]
rs12621547	0.84[ASN][1000 genomes]
rs12621557	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12621635	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13383167	0.89[ASN][1000 genomes]
rs13393197	0.86[ASN][1000 genomes]
rs13414183	0.91[CHB][hapmap];0.91[ASN][1000 genomes]
rs13414472	0.91[CHB][hapmap];0.89[ASN][1000 genomes]
rs13415842	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13421512	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs13423576	0.91[ASN][1000 genomes]
rs1547980	0.85[CEU][hapmap]
rs17045125	0.91[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17045215	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17045292	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2009149	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2272249	0.85[JPT][hapmap]
rs2272250	0.85[AMR][1000 genomes]
rs2287344	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2287345	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2293361	0.85[CEU][hapmap]
rs2357491	0.82[EUR][1000 genomes]
rs28439002	0.88[ASN][1000 genomes]
rs35833242	0.82[EUR][1000 genomes]
rs3755120	0.85[ASN][1000 genomes]
rs3770398	0.94[ASN][1000 genomes]
rs3770400	0.91[CHB][hapmap];0.95[ASN][1000 genomes]
rs3770401	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3770410	0.82[EUR][1000 genomes]
rs3770415	0.82[JPT][hapmap];0.82[EUR][1000 genomes]
rs3821080	0.91[CHB][hapmap];0.93[ASN][1000 genomes]
rs3850345	0.85[ASN][1000 genomes]
rs3850347	0.82[CEU][hapmap]
rs55839073	0.86[ASN][1000 genomes]
rs56189833	0.80[EUR][1000 genomes]
rs66684820	0.82[EUR][1000 genomes]
rs6705484	0.83[CHB][hapmap];0.86[ASN][1000 genomes]
rs6712204	0.91[CHB][hapmap];0.88[ASN][1000 genomes]
rs6714424	0.91[CHB][hapmap];0.92[ASN][1000 genomes]
rs6717642	0.92[ASN][1000 genomes]
rs6760101	0.82[EUR][1000 genomes]
rs68123661	0.82[EUR][1000 genomes]
rs72793658	0.81[ASN][1000 genomes]
rs72799229	0.87[AMR][1000 genomes]
rs72799234	0.85[AMR][1000 genomes]
rs72799236	0.85[AMR][1000 genomes]
rs7568771	0.86[ASN][1000 genomes]
rs7582542	0.92[ASN][1000 genomes]
rs7586686	0.91[CHB][hapmap];0.85[ASN][1000 genomes]
rs7595713	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7595816	0.83[CHB][hapmap];0.87[ASN][1000 genomes]
rs7600276	0.89[AMR][1000 genomes]
rs7609067	0.91[CHB][hapmap];0.92[ASN][1000 genomes]
rs991599	0.82[EUR][1000 genomes]
rs994484	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53908600-53982200	Weak transcription	Small Intestine	intestine
2	chr2:53910000-53994000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr2:53910200-53990600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr2:53918400-53994000	Weak transcription	Fetal Heart	heart
5	chr2:53925400-53979400	Weak transcription	Psoas Muscle	Psoas
6	chr2:53936800-53985400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr2:53937000-53983800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:53937000-53994400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:53937200-53983600	Weak transcription	Right Ventricle	heart
10	chr2:53937200-53994200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr2:53937400-53979600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:53937400-53990200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr2:53937400-53994400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr2:53938400-53982800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr2:53938400-53983400	Weak transcription	HSMMtube	muscle
16	chr2:53938400-53992400	Weak transcription	K562	blood
17	chr2:53943800-53983600	Weak transcription	Ovary	ovary
18	chr2:53943800-53983600	Weak transcription	Thymus	Thymus
19	chr2:53943800-53983800	Weak transcription	Left Ventricle	heart
20	chr2:53952400-53983600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:53954800-53982000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr2:53954800-53983800	Weak transcription	Lung	lung
23	chr2:53956000-53979600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr2:53956000-53983400	Weak transcription	Fetal Brain Male	brain
25	chr2:53956200-53983000	Weak transcription	Fetal Muscle Leg	muscle
26	chr2:53957000-53983800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:53957800-53983400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr2:53958200-53994400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr2:53960400-53983400	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr2:53961800-53979400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:53962200-53983400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr2:53963000-53994000	Weak transcription	A549	lung
33	chr2:53964000-53983600	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr2:53964600-53982400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr2:53964600-53983000	Weak transcription	Fetal Lung	lung
36	chr2:53966200-53982600	Weak transcription	Primary B cells from peripheral blood	blood
37	chr2:53967200-53990200	Weak transcription	Gastric	stomach
38	chr2:53968600-53983400	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr2:53969400-53979400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:53969400-53982200	Weak transcription	Brain Substantia Nigra	brain
41	chr2:53969400-53983400	Weak transcription	Brain Angular Gyrus	brain
42	chr2:53969600-53983400	Weak transcription	Brain Cingulate Gyrus	brain
43	chr2:53969600-53983600	Weak transcription	Brain Anterior Caudate	brain
44	chr2:53969600-53983600	Weak transcription	Brain Hippocampus Middle	brain
45	chr2:53970000-53983600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:53970200-53978800	Weak transcription	HUVEC	blood vessel
47	chr2:53971200-53983800	Weak transcription	Fetal Intestine Small	intestine
48	chr2:53971200-53990200	Weak transcription	Pancreas	Pancrea
49	chr2:53973000-53982000	Weak transcription	Stomach Mucosa	stomach
50	chr2:53973400-53994400	Weak transcription	Colonic Mucosa	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links