Variant report

Variant	rs61945217
Chromosome Location	chr12:118698999-118699000
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:118697555..118699270-chr12:118703351..118704934,2	K562	blood:

Extended variants
information (count: 129 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:122)

rs_ID	r²[population]
rs10507286	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16948193	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16948197	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16948204	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16948230	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16948234	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17433217	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17440364	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17440433	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17440669	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17440774	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17440823	0.91[AFR][1000 genomes]
rs17440893	0.91[AFR][1000 genomes]
rs17440942	0.81[AFR][1000 genomes]
rs17441172	0.81[AFR][1000 genomes]
rs17441251	0.81[AFR][1000 genomes]
rs17512142	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17512177	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17512198	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17512219	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17512407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17512483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17512525	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17512609	0.91[AFR][1000 genomes]
rs17512644	0.91[AFR][1000 genomes]
rs17512652	0.91[AFR][1000 genomes]
rs17513006	0.81[AFR][1000 genomes]
rs17513013	0.81[AFR][1000 genomes]
rs1909617	0.91[AFR][1000 genomes]
rs2393403	0.81[AFR][1000 genomes]
rs2393415	0.81[AFR][1000 genomes]
rs2393416	0.81[AFR][1000 genomes]
rs2784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3852531	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3852532	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4406856	0.81[AFR][1000 genomes]
rs4457791	0.81[AFR][1000 genomes]
rs4767672	0.81[AFR][1000 genomes]
rs55833534	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55842338	0.81[AFR][1000 genomes]
rs56033674	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56284927	0.91[AFR][1000 genomes]
rs56347775	0.81[AFR][1000 genomes]
rs56708462	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs58113338	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943362	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61943364	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61943367	0.91[AFR][1000 genomes]
rs61943368	0.91[AFR][1000 genomes]
rs61943385	0.91[AFR][1000 genomes]
rs61943389	0.81[AFR][1000 genomes]
rs61943392	0.81[AFR][1000 genomes]
rs61943400	0.81[AFR][1000 genomes]
rs61943444	0.81[AFR][1000 genomes]
rs61943447	0.81[AFR][1000 genomes]
rs61943451	0.81[AFR][1000 genomes]
rs61943452	0.81[AFR][1000 genomes]
rs61943454	0.81[AFR][1000 genomes]
rs61943455	0.81[AFR][1000 genomes]
rs61943456	0.81[AFR][1000 genomes]
rs61943457	0.81[AFR][1000 genomes]
rs61943535	1.00[ASN][1000 genomes]
rs61943537	1.00[ASN][1000 genomes]
rs61943538	1.00[ASN][1000 genomes]
rs61945177	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945180	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945181	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945182	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945183	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945184	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945187	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945188	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945189	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61945190	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945192	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945206	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945210	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945212	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945216	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945218	0.85[EUR][1000 genomes]
rs61945220	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945221	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61945224	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61945225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61945226	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61945228	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61946064	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61946067	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61946068	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs673078	0.83[AFR][1000 genomes]
rs7132753	0.81[AFR][1000 genomes]
rs7137184	0.81[AFR][1000 genomes]
rs7299040	0.81[AFR][1000 genomes]
rs7301950	1.00[ASN][1000 genomes]
rs7302387	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7303417	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7307393	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7309671	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7314987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73205512	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73205526	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73205531	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73205553	0.83[EUR][1000 genomes]
rs73205576	0.81[AFR][1000 genomes]
rs73205594	0.81[AFR][1000 genomes]
rs73207504	0.81[AFR][1000 genomes]
rs73207564	0.81[AFR][1000 genomes]
rs73207566	0.81[AFR][1000 genomes]
rs7954330	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7958551	0.81[AFR][1000 genomes]
rs7958652	0.81[AFR][1000 genomes]
rs7960802	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7961312	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7962185	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7963353	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7965350	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7968011	0.81[AFR][1000 genomes]
rs7970481	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7973455	0.82[AMR][1000 genomes]
rs7977403	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9669004	0.83[AMR][1000 genomes];0.86[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:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118637200-118700600	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr12:118637200-118700800	Weak transcription	Fetal Muscle Leg	muscle
3	chr12:118637400-118701400	Weak transcription	Spleen	Spleen
4	chr12:118637400-118703800	Weak transcription	Esophagus	oesophagus
5	chr12:118637400-118724000	Weak transcription	Aorta	Aorta
6	chr12:118652200-118727800	Weak transcription	NHLF	lung
7	chr12:118666800-118701000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr12:118667200-118704600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:118669000-118709000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr12:118669000-118725200	Weak transcription	K562	blood
11	chr12:118671200-118701800	Weak transcription	Right Ventricle	heart
12	chr12:118673200-118701600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr12:118673400-118705400	Weak transcription	Colonic Mucosa	Colon
14	chr12:118673400-118710400	Weak transcription	Placenta	Placenta
15	chr12:118673400-118737600	Weak transcription	Brain Hippocampus Middle	brain
16	chr12:118673600-118712000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr12:118673800-118703000	Weak transcription	Thymus	Thymus
18	chr12:118673800-118709200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr12:118673800-118737800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr12:118674000-118700800	Weak transcription	Stomach Smooth Muscle	stomach
21	chr12:118674000-118706200	Weak transcription	Left Ventricle	heart
22	chr12:118674000-118726200	Weak transcription	Lung	lung
23	chr12:118676000-118745200	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr12:118676200-118707400	Weak transcription	HSMM	muscle
25	chr12:118676400-118705000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr12:118676400-118718400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr12:118676800-118720400	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr12:118677000-118708000	Weak transcription	NHEK	skin
29	chr12:118677000-118708800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr12:118677000-118739800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr12:118682400-118699200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr12:118683200-118699600	Weak transcription	Fetal Intestine Small	intestine
33	chr12:118683400-118699200	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr12:118683400-118739800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr12:118685600-118699400	Weak transcription	Ovary	ovary
36	chr12:118691000-118702800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr12:118692400-118728000	Weak transcription	Adipose Nuclei	Adipose
38	chr12:118693400-118725600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr12:118693400-118745000	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr12:118693600-118702000	Weak transcription	Liver	Liver
41	chr12:118693600-118712000	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr12:118693600-118728200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr12:118694200-118699000	Weak transcription	Osteobl	bone
44	chr12:118694200-118702200	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr12:118694400-118703200	Weak transcription	NHDF-Ad	bronchial
46	chr12:118694600-118699000	Weak transcription	Primary B cells from peripheral blood	blood
47	chr12:118694600-118699000	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr12:118694600-118701800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr12:118694600-118702000	Weak transcription	Brain Angular Gyrus	brain
50	chr12:118694600-118702200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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