Variant report

Variant	rs61945177
Chromosome Location	chr12:118645032-118645033
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10507286	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11068870	0.89[EUR][1000 genomes]
rs11068891	0.85[EUR][1000 genomes]
rs11068908	0.81[EUR][1000 genomes]
rs12229607	0.81[EUR][1000 genomes]
rs16948193	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16948197	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16948204	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16948230	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16948234	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17433217	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17440364	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17440433	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17440669	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17440774	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17512142	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17512177	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17512198	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17512219	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17512407	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17512483	0.81[AMR][1000 genomes]
rs17512525	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2280711	0.89[EUR][1000 genomes]
rs2784	0.81[AMR][1000 genomes]
rs3852531	1.00[ASN][1000 genomes]
rs3852532	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55833534	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56033674	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56708462	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs58113338	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58884645	0.85[EUR][1000 genomes]
rs61943364	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61943535	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943537	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943538	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945175	0.90[EUR][1000 genomes]
rs61945176	0.90[EUR][1000 genomes]
rs61945180	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945181	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945182	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945183	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945184	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945187	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945188	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945189	1.00[ASN][1000 genomes]
rs61945190	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945192	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945206	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945207	0.82[EUR][1000 genomes]
rs61945210	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945212	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945216	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945217	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945218	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61945219	0.85[EUR][1000 genomes]
rs61945220	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945221	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945223	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61945224	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61945225	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61945226	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61945228	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61946064	0.81[AMR][1000 genomes]
rs61946067	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61946068	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6490173	0.81[EUR][1000 genomes]
rs7136216	0.82[EUR][1000 genomes]
rs7301950	1.00[ASN][1000 genomes]
rs7303417	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7307393	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7309671	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7314987	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73205512	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73205526	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73205531	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73222058	0.85[EUR][1000 genomes]
rs7954330	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7962185	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7963353	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7963464	0.85[EUR][1000 genomes]
rs7965350	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7970481	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7973455	0.82[AMR][1000 genomes]
rs7974718	0.85[EUR][1000 genomes]
rs7977403	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9669004	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:94 , 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	chr12:118622400-118646400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr12:118628400-118697200	Weak transcription	Psoas Muscle	Psoas
5	chr12:118628800-118650000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr12:118628800-118672600	Weak transcription	Colon Smooth Muscle	Colon
7	chr12:118628800-118673000	Weak transcription	NH-A	brain
8	chr12:118629800-118652400	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr12:118630800-118650000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:118636800-118658600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr12:118636800-118695000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr12:118637000-118652200	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr12:118637200-118647800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:118637200-118648000	Weak transcription	Brain Substantia Nigra	brain
15	chr12:118637200-118654400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr12:118637200-118700600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr12:118637200-118700800	Weak transcription	Fetal Muscle Leg	muscle
18	chr12:118637400-118649200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr12:118637400-118653600	Weak transcription	Ovary	ovary
20	chr12:118637400-118658200	Weak transcription	Brain Anterior Caudate	brain
21	chr12:118637400-118671400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr12:118637400-118672400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr12:118637400-118684200	Weak transcription	Pancreas	Pancrea
24	chr12:118637400-118694200	Weak transcription	Brain Angular Gyrus	brain
25	chr12:118637400-118701400	Weak transcription	Spleen	Spleen
26	chr12:118637400-118703800	Weak transcription	Esophagus	oesophagus
27	chr12:118637400-118724000	Weak transcription	Aorta	Aorta
28	chr12:118637600-118647400	Weak transcription	Thymus	Thymus
29	chr12:118637600-118673000	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr12:118637800-118650000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr12:118638600-118650200	Weak transcription	HUVEC	blood vessel
32	chr12:118638600-118651400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr12:118638800-118646000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr12:118638800-118651400	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr12:118638800-118651600	Weak transcription	Lung	lung
36	chr12:118638800-118654400	Weak transcription	Colonic Mucosa	Colon
37	chr12:118638800-118687800	Weak transcription	Gastric	stomach
38	chr12:118639000-118647200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr12:118639000-118648000	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr12:118639000-118650000	Weak transcription	Fetal Lung	lung
41	chr12:118639000-118672200	Weak transcription	Placenta	Placenta
42	chr12:118639000-118672200	Weak transcription	Left Ventricle	heart
43	chr12:118639000-118672800	Weak transcription	Small Intestine	intestine
44	chr12:118639200-118647200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr12:118639200-118647600	Weak transcription	Fetal Intestine Large	intestine
46	chr12:118639200-118647800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr12:118639200-118648000	Weak transcription	Brain Hippocampus Middle	brain
48	chr12:118639200-118649800	Weak transcription	Adipose Nuclei	Adipose
49	chr12:118639200-118650200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr12:118639200-118650800	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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