Variant report

Variant	rs10792743
Chromosome Location	chr11:71217006-71217007
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	chr11:71212078..71213595-chr11:71215421..71217314,2	K562	blood:

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs1044535	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs10751102	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10898117	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs11233555	0.82[CHB][hapmap]
rs11233606	0.86[EUR][1000 genomes]
rs11608138	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12281481	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1623080	0.80[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs1626291	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1790325	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs1790326	0.86[EUR][1000 genomes]
rs1790327	0.86[EUR][1000 genomes]
rs1790329	0.86[EUR][1000 genomes]
rs1790334	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1790337	1.00[CEU][hapmap]
rs1790346	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1790347	0.86[EUR][1000 genomes]
rs1790348	0.86[EUR][1000 genomes]
rs1790351	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1790354	0.86[EUR][1000 genomes]
rs1790355	0.86[EUR][1000 genomes]
rs1790356	0.81[EUR][1000 genomes]
rs1790357	0.86[EUR][1000 genomes]
rs1790373	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.85[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1792265	0.86[EUR][1000 genomes]
rs1792268	0.86[EUR][1000 genomes]
rs1792270	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs1792271	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs1792272	0.86[EUR][1000 genomes]
rs1792273	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes]
rs1792274	0.86[EUR][1000 genomes]
rs1792275	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs1792276	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1792278	1.00[CEU][hapmap]
rs1792279	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs1792285	0.86[EUR][1000 genomes]
rs1792316	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1792319	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2002906	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2155425	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2186773	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2186778	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2276353	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2276354	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2282617	1.00[CHB][hapmap];0.88[JPT][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2282618	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2282619	1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2298772	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2851693	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3763859	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3763860	0.89[JPT][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3794065	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3794066	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3794067	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3814731	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3814734	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4944063	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4944064	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4944075	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4944080	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4944997	1.00[CEU][hapmap]
rs4944999	0.91[ASN][1000 genomes]
rs4945001	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4945007	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4945013	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6592154	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592180	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7110053	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs7110316	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7113783	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7123973	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7124675	0.86[EUR][1000 genomes]
rs7129099	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs751389	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs760241	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs7690	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7926054	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7950584	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs949176	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs949177	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs949178	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048123	chr11:70795222-71231382	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
2	nsv897897	chr11:71088949-71217571	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
4	nsv468632	chr11:71200320-71289089	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv555402	chr11:71200320-71289089	Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71165800-71218400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
2	chr11:71181400-71217800	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr11:71181800-71218000	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr11:71182000-71217600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:71182200-71217800	Strong transcription	Primary T cells from cord blood	blood
6	chr11:71182400-71217200	Strong transcription	Sigmoid Colon	Sigmoid Colon
7	chr11:71182400-71217600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr11:71182400-71217800	Strong transcription	Duodenum Mucosa	Duodenum
9	chr11:71189800-71218400	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr11:71199600-71218400	Strong transcription	Fetal Intestine Small	intestine
11	chr11:71200200-71217400	Strong transcription	Fetal Intestine Large	intestine
12	chr11:71209400-71218800	Weak transcription	Small Intestine	intestine
13	chr11:71210200-71217600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr11:71210400-71217800	Weak transcription	Osteobl	bone
15	chr11:71210400-71220200	Weak transcription	NHEK	skin
16	chr11:71210600-71219200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:71211600-71218800	Weak transcription	HMEC	breast
18	chr11:71211800-71217400	Strong transcription	Gastric	stomach
19	chr11:71211800-71220600	Weak transcription	NH-A	brain
20	chr11:71211800-71232400	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr11:71212000-71218200	Weak transcription	HSMMtube	muscle
22	chr11:71212000-71220600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr11:71212200-71218200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr11:71213000-71217200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr11:71213000-71219600	Weak transcription	Primary B cells from cord blood	blood
26	chr11:71213000-71220800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr11:71213200-71217600	Weak transcription	Primary hematopoietic stem cells	blood
28	chr11:71213200-71218200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr11:71213200-71220600	Weak transcription	Colon Smooth Muscle	Colon
30	chr11:71213200-71232200	Weak transcription	Brain Angular Gyrus	brain
31	chr11:71213400-71217400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:71213400-71219200	Weak transcription	HepG2	liver
33	chr11:71213600-71217400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr11:71213600-71218400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr11:71213800-71217800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr11:71214000-71217800	Strong transcription	Liver	Liver
37	chr11:71214000-71218400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr11:71214600-71218000	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr11:71214600-71220000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr11:71214800-71219400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr11:71215000-71217200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr11:71215000-71217200	Enhancers	Brain Germinal Matrix	brain
43	chr11:71215000-71217800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr11:71215000-71222400	Weak transcription	HSMM	muscle
45	chr11:71215200-71217200	Enhancers	H1 Cell Line	embryonic stem cell
46	chr11:71215200-71217200	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr11:71215200-71217400	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr11:71215200-71217600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr11:71215400-71217200	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr11:71215400-71217800	Weak transcription	Placenta	Placenta

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