Variant report

Variant	rs4752965
Chromosome Location	chr11:47159053-47159054
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr11:47159050-47159339	HepG2	liver:	n/a	chr11:47159194-47159209

Variant related genes	Relation type
C11orf49	TF binding region

Extended variants
information (count: 120 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:120)

rs_ID	r²[population]
rs10466478	0.83[CHB][hapmap]
rs10501319	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.99[ASN][1000 genomes]
rs1051006	0.80[CEU][hapmap]
rs1060573	0.83[CHB][hapmap]
rs10742797	0.95[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs10769225	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs10769226	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.82[ASN][1000 genomes]
rs10769227	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10769228	0.83[ASN][1000 genomes]
rs10769234	0.86[CHB][hapmap]
rs10769248	0.88[ASN][1000 genomes]
rs10838640	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10838641	0.83[ASN][1000 genomes]
rs10838644	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.85[ASN][1000 genomes]
rs10838646	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10838652	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.92[ASN][1000 genomes]
rs10838658	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10838660	0.83[CHB][hapmap];0.80[CHD][hapmap]
rs10838662	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.99[ASN][1000 genomes]
rs10838663	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10838664	1.00[CHB][hapmap];0.87[CHD][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs10838689	0.80[CEU][hapmap]
rs11039035	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs11039074	0.90[CHB][hapmap];0.83[JPT][hapmap]
rs11039080	0.92[ASN][1000 genomes]
rs11039081	0.93[ASN][1000 genomes]
rs11039097	0.83[CHB][hapmap];0.80[CHD][hapmap]
rs11039098	0.84[ASN][1000 genomes]
rs11039105	0.83[CHB][hapmap]
rs11039112	0.83[CHB][hapmap]
rs11039119	0.83[CHB][hapmap]
rs11600668	0.83[CHB][hapmap]
rs11601798	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11602250	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11603373	0.95[ASN][1000 genomes]
rs12224096	0.82[CHB][hapmap]
rs12417519	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.96[ASN][1000 genomes]
rs12574410	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12796744	0.83[CHB][hapmap];0.80[CHD][hapmap]
rs17790204	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1872896	0.83[CHB][hapmap];0.80[CHD][hapmap]
rs2087215	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2242261	1.00[CEU][hapmap]
rs2242262	1.00[CEU][hapmap]
rs2279238	1.00[CEU][hapmap]
rs2279438	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs2279439	1.00[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap];0.95[ASN][1000 genomes]
rs2290146	0.80[CEU][hapmap]
rs2290148	0.80[CEU][hapmap]
rs2306353	1.00[CEU][hapmap]
rs2633080	1.00[CEU][hapmap]
rs2957873	0.86[MEX][hapmap]
rs3729802	0.85[CEU][hapmap]
rs3758666	0.86[ASN][1000 genomes]
rs3758667	0.82[ASN][1000 genomes]
rs3781619	1.00[CEU][hapmap]
rs3824866	1.00[CEU][hapmap]
rs3922684	0.96[ASN][1000 genomes]
rs4269876	0.96[ASN][1000 genomes]
rs4315028	0.93[ASN][1000 genomes]
rs4394802	0.95[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs4494268	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4498951	0.96[ASN][1000 genomes]
rs4528282	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4548577	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4576779	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4581406	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[YRI][hapmap]
rs4587689	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.96[ASN][1000 genomes]
rs4752815	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.80[ASN][1000 genomes]
rs4752816	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.80[ASN][1000 genomes]
rs4752951	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4752957	0.83[CHB][hapmap];0.80[CHD][hapmap]
rs4752962	0.83[CHB][hapmap]
rs4752967	0.83[CHB][hapmap]
rs4752968	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4752969	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.99[ASN][1000 genomes]
rs4752977	0.80[CEU][hapmap]
rs4752983	0.80[CEU][hapmap]
rs61896133	0.96[ASN][1000 genomes]
rs61896136	0.96[ASN][1000 genomes]
rs61897787	0.86[ASN][1000 genomes]
rs61897844	0.88[ASN][1000 genomes]
rs61897857	0.86[ASN][1000 genomes]
rs6485715	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs6485716	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs6485726	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.92[ASN][1000 genomes]
rs6485739	0.83[CHB][hapmap];0.80[CHD][hapmap]
rs7103581	0.83[CHB][hapmap]
rs7108822	0.87[ASN][1000 genomes]
rs7108902	0.83[CHB][hapmap]
rs7111270	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs7112854	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.96[ASN][1000 genomes]
rs7114683	0.92[ASN][1000 genomes]
rs7118396	1.00[CEU][hapmap]
rs7121418	0.83[CHB][hapmap];0.80[CHD][hapmap]
rs7123632	0.82[ASN][1000 genomes]
rs7124648	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.87[ASN][1000 genomes]
rs7125807	0.82[CHB][hapmap]
rs7126005	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.87[ASN][1000 genomes]
rs7127741	0.92[ASN][1000 genomes]
rs7128650	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.87[ASN][1000 genomes]
rs7130006	1.00[CHB][hapmap];0.87[CHD][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs7130947	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs7395496	1.00[CEU][hapmap]
rs747650	0.83[CHB][hapmap]
rs753992	0.80[CEU][hapmap]
rs7929688	0.80[ASN][1000 genomes]
rs7931260	0.83[CHB][hapmap]
rs7935346	0.83[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7937410	1.00[CHB][hapmap];0.87[CHD][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs7938169	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs7939786	0.80[ASN][1000 genomes]
rs7940240	1.00[CHB][hapmap];0.87[CHD][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs7945315	0.83[CHB][hapmap];0.80[CHD][hapmap]
rs7946709	0.83[CHB][hapmap]
rs7950753	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[YRI][hapmap];0.91[ASN][1000 genomes]
rs7951979	0.95[ASN][1000 genomes]
rs830084	1.00[CEU][hapmap]
rs901747	0.95[ASN][1000 genomes]
rs923324	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4752965	DDB2	Cis_1M	lymphoblastoid	RTeQTL
rs4752965	PTPMT1	cis	parietal	SCAN
rs4752965	ACP2	Cis_1M	lymphoblastoid	RTeQTL
rs4752965	ACP2	cis	lymphoblastoid	seeQTL

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47131600-47159400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:47131800-47161200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr11:47141000-47159400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr11:47141000-47164600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:47141200-47159400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr11:47143600-47164600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr11:47143600-47175200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr11:47144200-47159400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr11:47145200-47164800	Weak transcription	Ovary	ovary
10	chr11:47145200-47174800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr11:47146000-47159400	Weak transcription	Colon Smooth Muscle	Colon
12	chr11:47147000-47159200	Weak transcription	Thymus	Thymus
13	chr11:47147600-47164200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr11:47148200-47164400	Weak transcription	NHEK	skin
15	chr11:47149000-47170400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr11:47149400-47173200	Weak transcription	Primary B cells from peripheral blood	blood
17	chr11:47149600-47170400	Weak transcription	Esophagus	oesophagus
18	chr11:47149800-47164200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr11:47150000-47159200	Weak transcription	Fetal Brain Female	brain
20	chr11:47151200-47159200	Weak transcription	Fetal Stomach	stomach
21	chr11:47151200-47159200	Weak transcription	HepG2	liver
22	chr11:47151200-47170600	Weak transcription	Gastric	stomach
23	chr11:47152400-47159200	Weak transcription	Brain Anterior Caudate	brain
24	chr11:47152400-47159200	Weak transcription	Fetal Muscle Trunk	muscle
25	chr11:47152400-47159200	Weak transcription	NHDF-Ad	bronchial
26	chr11:47152600-47161400	Weak transcription	Brain Angular Gyrus	brain
27	chr11:47152800-47164600	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr11:47153000-47159200	Weak transcription	Fetal Muscle Leg	muscle
29	chr11:47153000-47164400	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr11:47153000-47164400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr11:47153000-47164400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr11:47153000-47164400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr11:47153000-47174400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:47153200-47159200	Weak transcription	Lung	lung
35	chr11:47153400-47174800	Weak transcription	Primary hematopoietic stem cells	blood
36	chr11:47154800-47160800	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr11:47155400-47164000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr11:47155400-47164600	Weak transcription	Pancreas	Pancrea
39	chr11:47155400-47170200	Weak transcription	Stomach Mucosa	stomach
40	chr11:47155600-47170200	Weak transcription	Small Intestine	intestine
41	chr11:47155600-47174400	Weak transcription	Fetal Brain Male	brain
42	chr11:47156400-47159200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr11:47156400-47159800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr11:47157000-47159400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr11:47157200-47164200	Weak transcription	Placenta	Placenta
46	chr11:47157200-47164400	Weak transcription	Rectal Smooth Muscle	rectum
47	chr11:47157400-47159200	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr11:47157400-47164000	Weak transcription	Fetal Kidney	kidney
49	chr11:47157600-47159200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr11:47157600-47159200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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