Variant report

Variant	rs17512219
Chromosome Location	chr12:118649273-118649274
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 145 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:139)

rs_ID	r²[population]
rs10507286	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10850967	0.86[CEU][hapmap]
rs11068870	0.87[EUR][1000 genomes]
rs11068891	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs11068906	0.81[EUR][1000 genomes]
rs11068908	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs11068917	0.92[CEU][hapmap]
rs11068919	0.85[CEU][hapmap]
rs12229607	0.93[CEU][hapmap];0.83[EUR][1000 genomes]
rs12820035	1.00[CHB][hapmap]
rs16939761	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16948193	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16948197	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16948204	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16948230	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16948234	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16948250	0.86[CEU][hapmap]
rs17433217	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17440315	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17440336	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17440364	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17440433	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17440669	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17440774	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17440823	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs17440893	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs17440942	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs17440956	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs17441033	1.00[CHB][hapmap]
rs17441061	0.86[CEU][hapmap];1.00[CHB][hapmap]
rs17441075	1.00[CHB][hapmap]
rs17512142	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17512177	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17512198	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17512407	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17512483	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes]
rs17512525	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17512574	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs17512609	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs17512644	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs17512652	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs17512763	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs17586342	1.00[CEU][hapmap]
rs17619932	0.92[CEU][hapmap]
rs1909617	0.82[AFR][1000 genomes]
rs2055534	0.86[CEU][hapmap];1.00[CHB][hapmap]
rs2062519	0.85[CEU][hapmap]
rs2280711	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2784	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes]
rs3852531	1.00[ASN][1000 genomes]
rs3852532	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4766899	0.85[CEU][hapmap]
rs4766900	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs4767669	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs4767670	0.86[CEU][hapmap];1.00[CHB][hapmap]
rs4767671	0.86[CEU][hapmap];1.00[CHB][hapmap]
rs4767672	0.86[CEU][hapmap];1.00[CHB][hapmap]
rs507517	1.00[CHB][hapmap]
rs55833534	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56033674	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56284927	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs56708462	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58113338	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58884645	0.87[EUR][1000 genomes]
rs61943362	0.82[AMR][1000 genomes]
rs61943364	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61943365	0.81[EUR][1000 genomes]
rs61943367	0.82[AFR][1000 genomes]
rs61943368	0.82[AFR][1000 genomes]
rs61943385	0.82[AFR][1000 genomes]
rs61943535	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943537	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943538	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945175	0.92[EUR][1000 genomes]
rs61945176	0.92[EUR][1000 genomes]
rs61945177	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945180	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945181	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945182	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945183	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945184	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945187	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945188	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945189	1.00[ASN][1000 genomes]
rs61945190	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945192	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945206	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945207	0.83[EUR][1000 genomes]
rs61945210	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945212	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945216	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945217	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945218	0.94[EUR][1000 genomes]
rs61945219	0.87[EUR][1000 genomes]
rs61945220	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945221	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945223	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61945224	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61945225	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61945226	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61945228	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61946064	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61946067	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61946068	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6490173	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs6490177	0.84[CEU][hapmap]
rs673078	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7136216	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs7136676	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs7137055	0.86[CEU][hapmap];1.00[CHB][hapmap]
rs7294498	0.85[CEU][hapmap]
rs7299040	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs7301950	1.00[ASN][1000 genomes]
rs7302387	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes]
rs7303417	0.92[CEU][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7304342	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs7307393	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7309484	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs7309671	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7314987	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73205512	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73205526	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73205531	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73222058	0.87[EUR][1000 genomes]
rs7954330	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7961312	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes]
rs7962185	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7963353	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7963464	0.87[EUR][1000 genomes]
rs7965350	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7967900	1.00[CHB][hapmap]
rs7970481	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7973455	0.91[AMR][1000 genomes]
rs7974718	0.81[CEU][hapmap];0.87[EUR][1000 genomes]
rs7977403	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7980093	1.00[JPT][hapmap]
rs884844	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs9669004	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9943819	0.92[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118620200-118656400	Weak transcription	HepG2	liver
2	chr12:118621000-118682600	Weak transcription	A549	lung
3	chr12:118628400-118697200	Weak transcription	Psoas Muscle	Psoas
4	chr12:118628800-118650000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr12:118628800-118672600	Weak transcription	Colon Smooth Muscle	Colon
6	chr12:118628800-118673000	Weak transcription	NH-A	brain
7	chr12:118629800-118652400	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr12:118630800-118650000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:118636800-118658600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:118636800-118695000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:118637000-118652200	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr12:118637200-118654400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr12:118637200-118700600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr12:118637200-118700800	Weak transcription	Fetal Muscle Leg	muscle
15	chr12:118637400-118653600	Weak transcription	Ovary	ovary
16	chr12:118637400-118658200	Weak transcription	Brain Anterior Caudate	brain
17	chr12:118637400-118671400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr12:118637400-118672400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr12:118637400-118684200	Weak transcription	Pancreas	Pancrea
20	chr12:118637400-118694200	Weak transcription	Brain Angular Gyrus	brain
21	chr12:118637400-118701400	Weak transcription	Spleen	Spleen
22	chr12:118637400-118703800	Weak transcription	Esophagus	oesophagus
23	chr12:118637400-118724000	Weak transcription	Aorta	Aorta
24	chr12:118637600-118673000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr12:118637800-118650000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr12:118638600-118650200	Weak transcription	HUVEC	blood vessel
27	chr12:118638600-118651400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr12:118638800-118651400	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr12:118638800-118651600	Weak transcription	Lung	lung
30	chr12:118638800-118654400	Weak transcription	Colonic Mucosa	Colon
31	chr12:118638800-118687800	Weak transcription	Gastric	stomach
32	chr12:118639000-118650000	Weak transcription	Fetal Lung	lung
33	chr12:118639000-118672200	Weak transcription	Placenta	Placenta
34	chr12:118639000-118672200	Weak transcription	Left Ventricle	heart
35	chr12:118639000-118672800	Weak transcription	Small Intestine	intestine
36	chr12:118639200-118649800	Weak transcription	Adipose Nuclei	Adipose
37	chr12:118639200-118650200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr12:118639200-118650800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr12:118639200-118651400	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr12:118639200-118651600	Weak transcription	Fetal Thymus	thymus
41	chr12:118639200-118658000	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr12:118639200-118658200	Weak transcription	Brain Cingulate Gyrus	brain
43	chr12:118639400-118651400	Weak transcription	NHEK	skin
44	chr12:118639400-118660800	Weak transcription	HSMMtube	muscle
45	chr12:118639400-118661800	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr12:118639400-118674800	Weak transcription	HMEC	breast
47	chr12:118639800-118649400	Weak transcription	NHLF	lung
48	chr12:118639800-118649800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr12:118639800-118650200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr12:118639800-118672600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links