Variant report

Variant	rs12574250
Chromosome Location	chr11:46491159-46491160
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	chr11:46490909..46492549-chr11:46494181..46496864,2	K562	blood:

Extended variants
information (count: 102 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10160701	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10838602	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11038897	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038900	0.96[EUR][1000 genomes]
rs11038906	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11038914	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11038919	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11038927	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11819869	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12272795	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12283172	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12292425	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs12295266	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12573978	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12574668	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12575519	0.93[EUR][1000 genomes]
rs12576115	0.92[EUR][1000 genomes]
rs12576317	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12576359	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12577142	0.92[EUR][1000 genomes]
rs12578042	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1472001	1.00[CEU][hapmap];0.86[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1489192	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16938506	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17197116	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[MKK][hapmap];0.88[YRI][hapmap];0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2046768	1.00[CEU][hapmap];0.88[GIH][hapmap];0.85[JPT][hapmap];0.96[TSI][hapmap];0.94[EUR][1000 genomes]
rs2067482	0.86[AFR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2171667	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2171668	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2279465	1.00[CEU][hapmap];0.88[GIH][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs2291487	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2864072	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2864076	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2902858	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34406563	1.00[CEU][hapmap];0.88[GIH][hapmap];0.85[JPT][hapmap];0.92[TSI][hapmap];0.91[EUR][1000 genomes]
rs35324223	0.81[EUR][1000 genomes]
rs35623865	1.00[CHB][hapmap];0.88[GIH][hapmap];0.96[TSI][hapmap];0.87[EUR][1000 genomes]
rs3740974	0.94[EUR][1000 genomes]
rs3740977	1.00[CEU][hapmap];0.88[GIH][hapmap];0.85[JPT][hapmap];0.96[TSI][hapmap];0.95[EUR][1000 genomes]
rs3802888	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3809047	0.85[JPT][hapmap]
rs4307676	0.84[EUR][1000 genomes]
rs55657382	0.87[EUR][1000 genomes]
rs55661562	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55750336	0.90[ASN][1000 genomes]
rs57535407	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58147945	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59319338	0.94[EUR][1000 genomes]
rs60722866	0.85[EUR][1000 genomes]
rs60932698	0.86[EUR][1000 genomes]
rs61882674	0.84[EUR][1000 genomes]
rs61882678	0.86[EUR][1000 genomes]
rs61882682	0.94[EUR][1000 genomes]
rs61882683	0.92[EUR][1000 genomes]
rs61882691	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61882701	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61882702	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61882706	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61882709	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61882710	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61882711	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61882712	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61882720	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61882743	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61882746	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61882748	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61882750	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61882756	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61882757	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61882758	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61884262	0.82[EUR][1000 genomes]
rs61884264	0.87[EUR][1000 genomes]
rs61884271	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61884273	0.84[EUR][1000 genomes]
rs61884274	0.84[EUR][1000 genomes]
rs6485682	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6485685	0.87[EUR][1000 genomes]
rs7108770	0.86[EUR][1000 genomes]
rs7109698	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap]
rs7112229	0.93[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7122039	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.88[EUR][1000 genomes]
rs7125907	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7126316	0.82[EUR][1000 genomes]
rs7126343	0.84[EUR][1000 genomes]
rs7127529	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7128092	0.83[EUR][1000 genomes]
rs7130141	0.87[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73449983	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7481312	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7484002	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.87[EUR][1000 genomes]
rs756343	0.90[ASN][1000 genomes]
rs7924401	0.88[EUR][1000 genomes]
rs7930103	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7932866	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7936413	1.00[CEU][hapmap];0.88[GIH][hapmap];0.85[JPT][hapmap];0.96[TSI][hapmap];0.94[EUR][1000 genomes]
rs7946705	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7951579	1.00[CEU][hapmap];0.86[CHB][hapmap];0.94[GIH][hapmap];0.85[JPT][hapmap];0.96[TSI][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7951870	1.00[CEU][hapmap];0.88[GIH][hapmap];0.85[JPT][hapmap];0.96[TSI][hapmap];0.94[EUR][1000 genomes]
rs876701	1.00[CEU][hapmap];0.85[JPT][hapmap];0.96[TSI][hapmap];0.88[EUR][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	nsv1050614	chr11:46414720-46496732	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1044225	chr11:46472580-46771102	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv541030	chr11:46472580-46771102	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46455400-46492200	Weak transcription	A549	lung
2	chr11:46456600-46493600	Weak transcription	Colonic Mucosa	Colon
3	chr11:46456800-46494200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr11:46456800-46515000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr11:46464200-46513000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr11:46465000-46513400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:46465200-46494600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr11:46465200-46504400	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr11:46465600-46511200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr11:46466200-46496200	Weak transcription	GM12878-XiMat	blood
11	chr11:46468000-46493600	Weak transcription	Right Ventricle	heart
12	chr11:46468400-46492200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr11:46468600-46493800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr11:46470800-46497600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr11:46473000-46493600	Weak transcription	Ovary	ovary
16	chr11:46473200-46492200	Weak transcription	NH-A	brain
17	chr11:46473200-46492400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:46478400-46504800	Weak transcription	Fetal Kidney	kidney
19	chr11:46479000-46493800	Weak transcription	Psoas Muscle	Psoas
20	chr11:46479000-46498600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr11:46479000-46513400	Weak transcription	Spleen	Spleen
22	chr11:46479000-46525600	Weak transcription	Lung	lung
23	chr11:46480000-46492200	Weak transcription	HMEC	breast
24	chr11:46480400-46492200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr11:46482800-46492200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr11:46483600-46493800	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr11:46484000-46492200	Weak transcription	HSMM	muscle
28	chr11:46484800-46494200	Weak transcription	K562	blood
29	chr11:46485600-46511200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr11:46485800-46496400	Weak transcription	Primary B cells from peripheral blood	blood
31	chr11:46486000-46511400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:46486000-46511400	Weak transcription	HSMMtube	muscle
33	chr11:46486200-46493400	Weak transcription	Brain Hippocampus Middle	brain
34	chr11:46486200-46513200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr11:46486200-46525800	Weak transcription	Fetal Brain Female	brain
36	chr11:46486400-46493600	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr11:46486400-46497400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr11:46486400-46500400	Weak transcription	Fetal Muscle Leg	muscle
39	chr11:46486400-46500600	Weak transcription	Left Ventricle	heart
40	chr11:46486400-46507400	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr11:46486400-46513600	Weak transcription	Esophagus	oesophagus
42	chr11:46486600-46518800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr11:46486800-46493400	Weak transcription	Pancreas	Pancrea
44	chr11:46487000-46497600	Weak transcription	Small Intestine	intestine
45	chr11:46487000-46511400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr11:46487200-46491600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr11:46487400-46503800	Weak transcription	Fetal Lung	lung
48	chr11:46487400-46514200	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr11:46487600-46492800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr11:46487600-46507200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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