Variant report

Variant	rs7962686
Chromosome Location	chr12:105465911-105465912
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:105463484..105466034-chr12:105475844..105478289,2	K562	blood:

Variant related genes	Relation type
ENSG00000136010	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10778366	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10861327	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10861328	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10861329	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10861330	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10861331	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10861332	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10861333	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10861335	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10861336	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11112347	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11112349	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11112350	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11112351	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11112352	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11112356	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11612252	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11613233	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11613261	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1196879	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1196880	0.86[ASN][1000 genomes]
rs1196882	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1196883	0.85[ASN][1000 genomes]
rs1196886	0.85[ASN][1000 genomes]
rs12367626	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12581638	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17242777	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1732377	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2374451	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2440693	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4144467	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4144468	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56118650	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56188643	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56369757	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61938827	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7308195	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7311691	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73179949	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][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	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv832505	chr12:105315352-105497765	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	esv1010041	chr12:105459777-105467603	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
4	nsv832506	chr12:105461274-105637561	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105413000-105476800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:105420000-105477000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr12:105435600-105467400	Weak transcription	Brain Substantia Nigra	brain
4	chr12:105441200-105477000	Weak transcription	Gastric	stomach
5	chr12:105442400-105469800	Weak transcription	Fetal Lung	lung
6	chr12:105445800-105472800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr12:105447000-105468000	Weak transcription	K562	blood
8	chr12:105447000-105468600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr12:105447200-105466800	Weak transcription	Brain Angular Gyrus	brain
10	chr12:105447200-105477200	Weak transcription	Brain Hippocampus Middle	brain
11	chr12:105449400-105476800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr12:105450800-105468200	Weak transcription	Brain Anterior Caudate	brain
13	chr12:105452000-105466200	Weak transcription	GM12878-XiMat	blood
14	chr12:105453400-105476800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr12:105454200-105476600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr12:105455600-105467800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:105455600-105476400	Weak transcription	Fetal Brain Male	brain
18	chr12:105456000-105477000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr12:105456400-105475000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr12:105456600-105475200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr12:105456800-105467400	Weak transcription	Fetal Stomach	stomach
22	chr12:105456800-105471200	Weak transcription	Pancreas	Pancrea
23	chr12:105456800-105476800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:105459000-105467200	Weak transcription	Aorta	Aorta
25	chr12:105460200-105467000	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr12:105460400-105476600	Weak transcription	Adipose Nuclei	Adipose
27	chr12:105460400-105476600	Weak transcription	Fetal Brain Female	brain
28	chr12:105460600-105466200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr12:105460600-105476600	Weak transcription	Brain Germinal Matrix	brain
30	chr12:105461800-105468000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr12:105462000-105467800	Strong transcription	Osteobl	bone
32	chr12:105462600-105467800	Strong transcription	HSMMtube	muscle
33	chr12:105462800-105468000	Strong transcription	HSMM	muscle
34	chr12:105463000-105467800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr12:105463200-105466200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr12:105463400-105467800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr12:105463800-105467200	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr12:105464000-105466000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr12:105464400-105476600	Weak transcription	Stomach Smooth Muscle	stomach
40	chr12:105464600-105466200	Weak transcription	NH-A	brain
41	chr12:105464600-105466800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr12:105464600-105475800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr12:105464600-105476200	Weak transcription	NHLF	lung
44	chr12:105464600-105477000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr12:105464600-105477000	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr12:105465000-105467800	Strong transcription	Fetal Muscle Trunk	muscle
47	chr12:105465200-105466200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr12:105465200-105466800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr12:105465200-105466800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr12:105465200-105467200	Weak transcription	HMEC	breast

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