Variant report

Variant	rs17619702
Chromosome Location	chr12:118674335-118674336
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:118674302..118676883-chr12:118810896..118813058,3	MCF-7	breast:
2	chr12:118629722..118631578-chr12:118673558..118677291,3	K562	blood:
3	chr12:118673323..118676031-chr12:118677378..118679199,2	MCF-7	breast:
4	chr12:118673643..118676401-chr12:118686637..118689650,3	K562	blood:

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10850968	0.93[CHB][hapmap]
rs11068847	0.83[AFR][1000 genomes]
rs11068853	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs11068854	1.00[CHB][hapmap];0.83[JPT][hapmap]
rs11068855	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs11068856	1.00[CHB][hapmap];0.93[JPT][hapmap]
rs11068860	1.00[CHB][hapmap];0.92[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11068864	1.00[CHB][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11068865	1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11068871	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11068872	0.83[EUR][1000 genomes]
rs11068878	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11068880	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11068881	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11068883	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11068887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11068888	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11068889	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11068891	0.93[CHB][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs11068892	0.83[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs11068893	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11068896	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11068898	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11068899	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11068900	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11068901	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11068904	0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11068906	0.91[ASN][1000 genomes]
rs11068908	0.93[CHB][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs11068909	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11068914	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11068915	1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11068916	1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11068917	0.93[CHB][hapmap];0.81[ASN][1000 genomes]
rs11068919	0.87[CHB][hapmap];0.80[ASN][1000 genomes]
rs11068920	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11068922	0.82[ASN][1000 genomes]
rs11068923	0.93[CHB][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11068924	1.00[EUR][1000 genomes]
rs11068930	1.00[EUR][1000 genomes]
rs11068933	0.93[CHB][hapmap]
rs11068937	0.93[CHB][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11068940	1.00[EUR][1000 genomes]
rs11068941	1.00[EUR][1000 genomes]
rs11068943	1.00[EUR][1000 genomes]
rs11068945	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12227411	0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12227974	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12228425	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12229607	0.83[CHB][hapmap];0.88[ASN][1000 genomes]
rs12230104	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12231358	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12231845	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16948250	0.87[CHB][hapmap];0.86[JPT][hapmap]
rs17586342	0.93[CHB][hapmap]
rs17586582	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17619569	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs17619805	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17619932	0.93[CHB][hapmap];0.85[ASN][1000 genomes]
rs2062520	1.00[EUR][1000 genomes]
rs2271007	0.93[CHB][hapmap];1.00[EUR][1000 genomes]
rs2280711	0.93[CHB][hapmap];0.81[ASN][1000 genomes]
rs3741444	1.00[EUR][1000 genomes]
rs61943365	0.86[ASN][1000 genomes]
rs61945207	0.92[ASN][1000 genomes]
rs61945219	0.93[ASN][1000 genomes]
rs6490177	0.81[ASN][1000 genomes]
rs7132582	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7136216	0.93[CHB][hapmap]
rs7296216	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73222056	0.81[ASN][1000 genomes]
rs73222058	0.95[ASN][1000 genomes]
rs7963464	0.93[ASN][1000 genomes]
rs7974718	0.93[CHB][hapmap];0.86[JPT][hapmap];0.95[ASN][1000 genomes]
rs9888447	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1035497	chr12:118599539-118732144	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv541612	chr12:118599539-118732144	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv524938	chr12:118624736-118740675	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1038224	chr12:118648415-118791388	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1040061	chr12:118648415-118800437	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	esv1815572	chr12:118664823-118685792	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118621000-118682600	Weak transcription	A549	lung
2	chr12:118628400-118697200	Weak transcription	Psoas Muscle	Psoas
3	chr12:118636800-118695000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr12:118637200-118700600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr12:118637200-118700800	Weak transcription	Fetal Muscle Leg	muscle
6	chr12:118637400-118684200	Weak transcription	Pancreas	Pancrea
7	chr12:118637400-118694200	Weak transcription	Brain Angular Gyrus	brain
8	chr12:118637400-118701400	Weak transcription	Spleen	Spleen
9	chr12:118637400-118703800	Weak transcription	Esophagus	oesophagus
10	chr12:118637400-118724000	Weak transcription	Aorta	Aorta
11	chr12:118638800-118687800	Weak transcription	Gastric	stomach
12	chr12:118639400-118674800	Weak transcription	HMEC	breast
13	chr12:118650400-118690400	Weak transcription	Stomach Mucosa	stomach
14	chr12:118650600-118679400	Weak transcription	HUVEC	blood vessel
15	chr12:118652200-118727800	Weak transcription	NHLF	lung
16	chr12:118658000-118685400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr12:118659000-118675200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr12:118659000-118693800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr12:118660600-118674800	Weak transcription	HepG2	liver
20	chr12:118664800-118674800	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr12:118666200-118677000	Strong transcription	Dnd41	blood
22	chr12:118666800-118701000	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr12:118667200-118704600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:118667400-118676600	Weak transcription	Hela-S3	cervix
25	chr12:118667800-118677600	Weak transcription	Fetal Intestine Small	intestine
26	chr12:118668800-118674400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr12:118669000-118709000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr12:118669000-118725200	Weak transcription	K562	blood
29	chr12:118670000-118674400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:118671200-118676000	Strong transcription	NHDF-Ad	bronchial
31	chr12:118671200-118677000	Strong transcription	Duodenum Mucosa	Duodenum
32	chr12:118671200-118677000	Strong transcription	Fetal Intestine Large	intestine
33	chr12:118671200-118677200	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr12:118671200-118701800	Weak transcription	Right Ventricle	heart
35	chr12:118671400-118675200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr12:118671400-118675400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:118671400-118676800	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr12:118671400-118677000	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr12:118671400-118677000	Strong transcription	Liver	Liver
40	chr12:118671400-118683400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr12:118672000-118674400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr12:118672000-118676000	Strong transcription	Adipose Nuclei	Adipose
43	chr12:118672200-118676000	Strong transcription	Fetal Thymus	thymus
44	chr12:118672200-118676200	Strong transcription	HSMM	muscle
45	chr12:118672200-118677000	Strong transcription	Primary T cells from cord blood	blood
46	chr12:118672400-118676200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr12:118672400-118677600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr12:118672600-118675400	Weak transcription	Fetal Brain Male	brain
49	chr12:118672600-118676000	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr12:118672800-118675200	Strong transcription	Osteobl	bone

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