Variant report

Variant	rs11112350
Chromosome Location	chr12:105448307-105448308
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:105312658..105314967-chr12:105446704..105448489,2	K562	blood:
2	chr12:105446388..105448614-chr12:105457572..105460217,2	MCF-7	breast:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10778366	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10861327	1.00[CEU][hapmap];0.80[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10861328	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10861329	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10861330	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10861331	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10861332	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10861333	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10861335	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10861336	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11112347	1.00[CEU][hapmap];0.80[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11112349	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11112351	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11112352	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11112356	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11611105	0.95[CHB][hapmap]
rs11612252	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11613233	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11613261	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1196758	0.82[CEU][hapmap]
rs1196766	0.85[CEU][hapmap]
rs1196767	0.85[CEU][hapmap]
rs1196768	0.91[CEU][hapmap]
rs1196781	0.85[CEU][hapmap]
rs1196788	0.85[CEU][hapmap]
rs1196796	0.86[CEU][hapmap]
rs1196804	0.85[CEU][hapmap]
rs1196814	0.85[CEU][hapmap]
rs1196836	0.85[CEU][hapmap]
rs1196838	0.82[CEU][hapmap]
rs1196878	0.82[CEU][hapmap]
rs1196879	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1196880	0.88[ASN][1000 genomes]
rs1196882	0.96[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1196883	0.95[CHB][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs1196886	0.87[ASN][1000 genomes]
rs1201657	0.85[CEU][hapmap]
rs12367626	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12581638	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17242777	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1732377	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1732378	0.81[CEU][hapmap]
rs2246510	0.85[CEU][hapmap]
rs2264066	0.86[CEU][hapmap]
rs2374448	0.85[CEU][hapmap]
rs2374451	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2440693	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2440708	0.85[CEU][hapmap]
rs2440717	0.84[CEU][hapmap]
rs4144467	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4144468	1.00[CEU][hapmap];0.81[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56118650	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56188643	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56369757	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61938827	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs727888	0.86[CEU][hapmap]
rs7308195	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7310488	0.85[CEU][hapmap]
rs7311691	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73179949	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7962686	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv899498	chr12:105173598-105461620	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
3	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

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105409400-105465200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr12:105413000-105476800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:105413200-105457800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr12:105414800-105454000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr12:105420000-105477000	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr12:105420400-105448600	Weak transcription	Ovary	ovary
7	chr12:105423200-105459400	Weak transcription	Lung	lung
8	chr12:105431400-105461600	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr12:105431800-105454800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:105432200-105454600	Weak transcription	NHEK	skin
11	chr12:105434000-105453000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr12:105435200-105453600	Weak transcription	Fetal Stomach	stomach
13	chr12:105435600-105467400	Weak transcription	Brain Substantia Nigra	brain
14	chr12:105437200-105448600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr12:105440200-105449800	Strong transcription	HSMMtube	muscle
16	chr12:105440400-105448600	Strong transcription	HSMM	muscle
17	chr12:105441200-105477000	Weak transcription	Gastric	stomach
18	chr12:105441400-105453400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr12:105441400-105454800	Weak transcription	Pancreas	Pancrea
20	chr12:105441600-105448800	Weak transcription	A549	lung
21	chr12:105441600-105458200	Weak transcription	Right Ventricle	heart
22	chr12:105442400-105448400	Weak transcription	Aorta	Aorta
23	chr12:105442400-105448800	Weak transcription	Fetal Muscle Leg	muscle
24	chr12:105442400-105451000	Weak transcription	Fetal Brain Male	brain
25	chr12:105442400-105469800	Weak transcription	Fetal Lung	lung
26	chr12:105443400-105465000	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr12:105443600-105448800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr12:105443800-105453000	Weak transcription	Rectal Smooth Muscle	rectum
29	chr12:105444000-105453600	Weak transcription	Fetal Muscle Trunk	muscle
30	chr12:105444200-105449200	Weak transcription	Fetal Brain Female	brain
31	chr12:105445200-105453200	Weak transcription	Stomach Smooth Muscle	stomach
32	chr12:105445400-105448400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr12:105445400-105448800	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr12:105445400-105453200	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr12:105445800-105448400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr12:105445800-105472800	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr12:105446200-105448800	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr12:105446600-105448400	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr12:105446800-105448400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr12:105446800-105448800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr12:105446800-105448800	Weak transcription	HMEC	breast
42	chr12:105446800-105448800	Weak transcription	Osteobl	bone
43	chr12:105446800-105450400	Weak transcription	NH-A	brain
44	chr12:105446800-105451200	Weak transcription	NHLF	lung
45	chr12:105447000-105448600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr12:105447000-105448800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr12:105447000-105449600	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr12:105447000-105453200	Weak transcription	Brain Cingulate Gyrus	brain
49	chr12:105447000-105461600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr12:105447000-105464600	Weak transcription	Left Ventricle	heart

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