Variant report

Variant	rs61945216
Chromosome Location	chr12:118693837-118693838
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 112 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs10507286	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11068870	0.83[EUR][1000 genomes]
rs11068891	0.91[EUR][1000 genomes]
rs11068906	0.84[EUR][1000 genomes]
rs11068908	0.86[EUR][1000 genomes]
rs11068910	0.82[EUR][1000 genomes]
rs12229607	0.86[EUR][1000 genomes]
rs12308475	0.83[EUR][1000 genomes]
rs16948193	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16948197	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16948204	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16948230	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16948234	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17433217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17440364	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17440433	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17440669	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17440774	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17440823	0.85[EUR][1000 genomes]
rs17512142	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17512177	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17512198	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17512219	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17512407	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17512483	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17512525	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17512574	0.85[EUR][1000 genomes]
rs17512609	0.82[EUR][1000 genomes]
rs17512644	0.81[EUR][1000 genomes]
rs17512652	0.81[EUR][1000 genomes]
rs2280711	0.87[EUR][1000 genomes]
rs2784	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3852531	1.00[ASN][1000 genomes]
rs3852532	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55781910	0.83[AMR][1000 genomes]
rs55833534	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56033674	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56284927	0.85[EUR][1000 genomes]
rs56708462	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58113338	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58884645	0.91[EUR][1000 genomes]
rs61943362	0.83[EUR][1000 genomes]
rs61943364	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61943365	0.84[EUR][1000 genomes]
rs61943535	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943537	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943538	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945175	0.88[EUR][1000 genomes]
rs61945176	0.88[EUR][1000 genomes]
rs61945177	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945180	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945181	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945182	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945183	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945184	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945187	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945188	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945189	1.00[ASN][1000 genomes]
rs61945190	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945192	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945206	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945207	0.87[EUR][1000 genomes]
rs61945210	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945212	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945217	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945218	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61945219	0.91[EUR][1000 genomes]
rs61945220	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945221	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945223	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61945224	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61945225	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61945226	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61945228	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61946063	0.83[EUR][1000 genomes]
rs61946064	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61946067	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61946068	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6490173	0.86[EUR][1000 genomes]
rs6490175	0.80[EUR][1000 genomes]
rs7136216	0.80[EUR][1000 genomes]
rs7301950	1.00[ASN][1000 genomes]
rs7302387	0.83[EUR][1000 genomes]
rs7303417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7307393	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7309671	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7314987	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73205512	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73205526	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73205531	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73205551	0.81[EUR][1000 genomes]
rs73222058	0.91[EUR][1000 genomes]
rs7954330	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7957828	0.83[EUR][1000 genomes]
rs7961312	0.84[EUR][1000 genomes]
rs7962185	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7963353	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7963464	0.91[EUR][1000 genomes]
rs7965350	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7970481	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7973455	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7974718	0.91[EUR][1000 genomes]
rs7977403	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9669004	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9943819	0.82[EUR][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	nsv1053417	chr12:118688969-118808530	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118628400-118697200	Weak transcription	Psoas Muscle	Psoas
2	chr12:118636800-118695000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:118637200-118700600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr12:118637200-118700800	Weak transcription	Fetal Muscle Leg	muscle
5	chr12:118637400-118694200	Weak transcription	Brain Angular Gyrus	brain
6	chr12:118637400-118701400	Weak transcription	Spleen	Spleen
7	chr12:118637400-118703800	Weak transcription	Esophagus	oesophagus
8	chr12:118637400-118724000	Weak transcription	Aorta	Aorta
9	chr12:118652200-118727800	Weak transcription	NHLF	lung
10	chr12:118666800-118701000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr12:118667200-118704600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:118669000-118709000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr12:118669000-118725200	Weak transcription	K562	blood
14	chr12:118671200-118701800	Weak transcription	Right Ventricle	heart
15	chr12:118673200-118698800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr12:118673200-118701600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr12:118673400-118705400	Weak transcription	Colonic Mucosa	Colon
18	chr12:118673400-118710400	Weak transcription	Placenta	Placenta
19	chr12:118673400-118737600	Weak transcription	Brain Hippocampus Middle	brain
20	chr12:118673600-118712000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr12:118673800-118694200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr12:118673800-118703000	Weak transcription	Thymus	Thymus
23	chr12:118673800-118709200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr12:118673800-118737800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr12:118674000-118700800	Weak transcription	Stomach Smooth Muscle	stomach
26	chr12:118674000-118706200	Weak transcription	Left Ventricle	heart
27	chr12:118674000-118726200	Weak transcription	Lung	lung
28	chr12:118676000-118745200	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr12:118676200-118694000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr12:118676200-118707400	Weak transcription	HSMM	muscle
31	chr12:118676400-118705000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr12:118676400-118718400	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr12:118676800-118720400	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr12:118677000-118695400	Weak transcription	HMEC	breast
35	chr12:118677000-118708000	Weak transcription	NHEK	skin
36	chr12:118677000-118708800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr12:118677000-118739800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr12:118679000-118694200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:118680200-118696000	Weak transcription	HUVEC	blood vessel
40	chr12:118682200-118694000	Weak transcription	Fetal Lung	lung
41	chr12:118682400-118699200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr12:118683200-118699600	Weak transcription	Fetal Intestine Small	intestine
43	chr12:118683400-118699200	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr12:118683400-118739800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr12:118685600-118699400	Weak transcription	Ovary	ovary
46	chr12:118687200-118694200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr12:118687400-118694400	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr12:118687600-118697000	Weak transcription	Small Intestine	intestine
49	chr12:118688200-118694600	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr12:118688200-118696200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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