Variant report

Variant	rs4752957
Chromosome Location	chr11:47125632-47125633
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:47122507..47125305-chr11:47125314..47127703,3	K562	blood:
2	chr11:47124265..47126644-chr11:47130581..47133177,2	K562	blood:

Extended variants
information (count: 113 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:112)

rs_ID	r²[population]
rs10466478	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10501319	0.83[CHB][hapmap];0.92[GIH][hapmap];0.83[MEX][hapmap]
rs1055447	0.83[CHD][hapmap];0.81[GIH][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs1060573	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10769225	0.82[CHB][hapmap]
rs10769226	0.83[CHB][hapmap];0.94[GIH][hapmap]
rs10769227	0.83[CHB][hapmap]
rs10769230	0.86[ASN][1000 genomes]
rs10769233	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10769234	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10769239	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10838635	0.83[CHB][hapmap];0.94[GIH][hapmap];0.83[MEX][hapmap]
rs10838640	0.83[CHB][hapmap]
rs10838644	0.83[CHB][hapmap];0.94[GIH][hapmap];0.83[MEX][hapmap]
rs10838646	0.83[CHB][hapmap]
rs10838652	0.83[CHB][hapmap];0.94[GIH][hapmap];0.83[MEX][hapmap]
rs10838654	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10838658	0.82[CHB][hapmap]
rs10838659	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10838660	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10838662	0.83[CHB][hapmap];0.92[GIH][hapmap]
rs10838663	0.83[CHB][hapmap]
rs10838664	0.83[CHB][hapmap];0.86[GIH][hapmap]
rs11039035	0.83[CHB][hapmap]
rs11039074	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11039086	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11039097	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11039105	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11039107	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11039112	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11039119	0.95[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.92[GIH][hapmap];0.94[JPT][hapmap];0.83[MEX][hapmap];0.94[TSI][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11039124	0.89[ASN][1000 genomes]
rs11039134	0.84[ASN][1000 genomes]
rs11600292	0.83[CHB][hapmap];0.94[GIH][hapmap];0.83[MEX][hapmap]
rs11600668	0.95[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.92[GIH][hapmap];0.94[JPT][hapmap];0.87[MEX][hapmap];0.97[TSI][hapmap];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11601798	0.85[CHB][hapmap]
rs11602250	0.84[CHB][hapmap]
rs12224096	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12291341	0.85[ASN][1000 genomes]
rs12417519	0.83[CHB][hapmap];0.94[GIH][hapmap];0.83[MEX][hapmap]
rs12574410	0.86[CHB][hapmap]
rs12796744	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12807887	0.89[ASN][1000 genomes]
rs17790204	0.82[CHB][hapmap]
rs1872896	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1965952	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1976142	0.83[ASN][1000 genomes]
rs1976143	0.85[ASN][1000 genomes]
rs2018527	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2029298	0.95[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.89[GIH][hapmap];0.83[JPT][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap];0.85[ASN][1000 genomes]
rs2087215	0.83[CHB][hapmap];0.80[CHD][hapmap];0.92[GIH][hapmap]
rs2279438	0.83[CHB][hapmap]
rs2279439	0.83[CHB][hapmap];0.86[GIH][hapmap]
rs4237547	0.85[ASN][1000 genomes]
rs4319472	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4394802	0.94[GIH][hapmap];0.87[MEX][hapmap]
rs4528282	0.82[CHB][hapmap]
rs4548577	0.83[CHB][hapmap]
rs4567413	0.95[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.86[GIH][hapmap];0.83[JPT][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap];0.85[ASN][1000 genomes]
rs4579897	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4581406	0.83[CHB][hapmap];0.94[GIH][hapmap]
rs4587689	0.83[CHB][hapmap];0.80[CHD][hapmap];0.94[GIH][hapmap];0.83[MEX][hapmap]
rs4752815	0.83[CHB][hapmap];0.94[GIH][hapmap];0.83[MEX][hapmap]
rs4752816	0.83[CHB][hapmap];0.94[GIH][hapmap];0.83[MEX][hapmap]
rs4752951	0.82[CHB][hapmap]
rs4752952	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4752962	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4752963	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4752965	0.83[CHB][hapmap];0.80[CHD][hapmap]
rs4752967	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4752969	0.83[CHB][hapmap];0.92[GIH][hapmap]
rs4752971	0.95[CEU][hapmap];0.89[ASN][1000 genomes]
rs57323109	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6485715	0.83[CHB][hapmap];0.94[GIH][hapmap];0.91[MEX][hapmap]
rs6485716	0.86[CHB][hapmap]
rs6485721	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6485722	0.88[ASN][1000 genomes]
rs6485726	0.83[CHB][hapmap];0.94[GIH][hapmap];0.83[MEX][hapmap]
rs6485739	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7103581	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7108902	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7111270	0.83[CHB][hapmap]
rs7111764	0.85[ASN][1000 genomes]
rs7112854	0.82[CHB][hapmap];0.80[CHD][hapmap];0.94[GIH][hapmap];0.83[MEX][hapmap]
rs7118546	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7119952	0.86[ASN][1000 genomes]
rs7121418	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7124648	0.83[CHB][hapmap];0.94[GIH][hapmap];0.83[MEX][hapmap]
rs7125807	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs7126005	0.83[CHB][hapmap];0.94[GIH][hapmap];0.83[MEX][hapmap]
rs7128325	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7128650	0.83[CHB][hapmap];0.94[GIH][hapmap];0.83[MEX][hapmap]
rs7130006	0.83[CHB][hapmap];0.83[GIH][hapmap]
rs7130947	0.83[CHB][hapmap];0.94[GIH][hapmap];0.91[MEX][hapmap]
rs747650	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.97[TSI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7479189	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7931260	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap]
rs7935346	0.94[GIH][hapmap]
rs7937101	0.95[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.86[GIH][hapmap];0.84[JPT][hapmap];0.88[MEX][hapmap];0.92[TSI][hapmap];0.85[ASN][1000 genomes]
rs7937410	0.83[CHB][hapmap];0.86[GIH][hapmap]
rs7937950	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7938169	0.83[CHB][hapmap];0.94[GIH][hapmap];0.91[MEX][hapmap]
rs7940240	0.83[CHB][hapmap];0.86[GIH][hapmap]
rs7940441	0.86[GIH][hapmap]
rs7942473	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7945315	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7945558	0.83[CHB][hapmap];0.91[GIH][hapmap];0.83[MEX][hapmap]
rs7946709	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7947878	0.85[ASN][1000 genomes]
rs7950753	0.83[CHB][hapmap];0.94[GIH][hapmap]
rs923324	0.82[CHB][hapmap]
rs9633886	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv541033	chr11:47113897-47125838	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4752957	F2	cis	cerebellum	SCAN
rs4752957	CTD-2384B9.1	cis	Nerve Tibial	GTEx

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47110000-47126000	Weak transcription	Brain Angular Gyrus	brain
2	chr11:47117400-47125800	Weak transcription	Fetal Intestine Small	intestine
3	chr11:47121200-47130600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr11:47121200-47132600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr11:47121400-47125800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr11:47121400-47129000	Weak transcription	Hela-S3	cervix
7	chr11:47121600-47125800	Weak transcription	Osteobl	bone
8	chr11:47121600-47140200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:47122000-47125800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr11:47122000-47127400	Weak transcription	Stomach Mucosa	stomach
11	chr11:47122200-47126000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr11:47122400-47125800	Weak transcription	Fetal Muscle Trunk	muscle
13	chr11:47122400-47126000	Weak transcription	Gastric	stomach
14	chr11:47122400-47140400	Weak transcription	Pancreas	Pancrea
15	chr11:47123000-47125800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr11:47123000-47132600	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr11:47123400-47125800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr11:47123600-47127600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr11:47124400-47125800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr11:47124400-47125800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr11:47124400-47125800	Weak transcription	Fetal Brain Female	brain
22	chr11:47124600-47128200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr11:47124600-47132800	Weak transcription	Thymus	Thymus
24	chr11:47124600-47133000	Weak transcription	Fetal Thymus	thymus
25	chr11:47124600-47159000	Weak transcription	Primary T cells from cord blood	blood
26	chr11:47125000-47126400	Enhancers	Brain Germinal Matrix	brain
27	chr11:47125000-47128400	Enhancers	Brain Anterior Caudate	brain
28	chr11:47125200-47126800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr11:47125200-47129400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr11:47125200-47132400	Enhancers	Fetal Muscle Leg	muscle
31	chr11:47125400-47125800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr11:47125400-47125800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr11:47125400-47126800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:47125400-47127000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr11:47125400-47127400	Enhancers	HSMM	muscle
36	chr11:47125400-47128400	Enhancers	Brain Substantia Nigra	brain
37	chr11:47125400-47133400	Enhancers	Fetal Lung	lung
38	chr11:47125600-47126000	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr11:47125600-47126000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr11:47125600-47126200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr11:47125600-47126200	Enhancers	Fetal Brain Male	brain
42	chr11:47125600-47126200	Flanking Active TSS	HSMMtube	muscle
43	chr11:47125600-47126400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr11:47125600-47126400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr11:47125600-47126400	Enhancers	Fetal Stomach	stomach
46	chr11:47125600-47126600	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr11:47125600-47126600	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr11:47125600-47126600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr11:47125600-47126600	Enhancers	Muscle Satellite Cultured Cells	--
50	chr11:47125600-47126600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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