Variant report

Variant	rs2729752
Chromosome Location	chr11:77076797-77076798
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs1037452	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10501425	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10899366	0.88[CHB][hapmap]
rs10899367	0.88[CHB][hapmap]
rs10899372	0.94[ASN][1000 genomes]
rs10899373	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10899377	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11237190	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11237198	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11237200	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11820118	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11828786	1.00[CEU][hapmap];0.88[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12223138	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12420360	1.00[CEU][hapmap];0.89[CHB][hapmap];0.92[JPT][hapmap];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12421190	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1453341	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17135670	1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs17135689	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2100393	0.89[AMR][1000 genomes]
rs2154754	0.87[JPT][hapmap]
rs2156863	0.88[CHB][hapmap]
rs2467481	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2602460	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2602461	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2602462	0.91[ASN][1000 genomes]
rs2602466	0.82[ASN][1000 genomes]
rs2602471	1.00[CEU][hapmap];0.88[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2602472	0.88[YRI][hapmap];0.87[AFR][1000 genomes]
rs2602473	1.00[CEU][hapmap];0.88[CHB][hapmap];0.88[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2602474	1.00[CEU][hapmap];0.88[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2602475	1.00[CEU][hapmap];0.83[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2602480	0.88[CHB][hapmap]
rs2602481	0.83[CHB][hapmap];0.86[JPT][hapmap];0.89[AMR][1000 genomes]
rs2602482	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs2725829	1.00[CEU][hapmap];0.88[CHB][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs2725834	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2729749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2729750	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2729751	0.92[ASN][1000 genomes]
rs2729756	1.00[CEU][hapmap];0.82[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2729757	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2729758	0.88[CHB][hapmap]
rs2729763	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2729772	0.83[CHB][hapmap]
rs2729775	1.00[CEU][hapmap];0.81[CHB][hapmap];0.91[JPT][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2844327	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2844335	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2852381	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2852383	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2852388	1.00[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2852389	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2852390	1.00[CEU][hapmap];0.88[CHB][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs2853084	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2853085	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2853089	1.00[CEU][hapmap];0.81[AMR][1000 genomes]
rs2853091	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2853094	0.87[CHB][hapmap]
rs2853095	1.00[CEU][hapmap];0.88[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2853098	1.00[CEU][hapmap];0.88[CHB][hapmap];0.82[JPT][hapmap];0.94[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2888377	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3019249	0.81[AFR][1000 genomes]
rs4092275	0.92[ASN][1000 genomes]
rs4944159	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4944160	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs503406	0.82[JPT][hapmap]
rs505841	0.82[ASN][1000 genomes]
rs57305199	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57440754	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6592721	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7105662	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7112264	0.87[ASN][1000 genomes]
rs724369	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs733358	0.83[CHB][hapmap];0.87[JPT][hapmap];0.85[AMR][1000 genomes]
rs745458	0.81[AMR][1000 genomes]
rs7944289	0.86[ASN][1000 genomes]
rs876319	1.00[CEU][hapmap];0.88[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs896841	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs947809	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs947810	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.92[ASN][1000 genomes]
rs9634030	0.88[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048360	chr11:76900813-77387933	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv541089	chr11:76900813-77387933	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1049603	chr11:76900813-77520411	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv541090	chr11:76900813-77520411	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	esv3424135	chr11:76961603-77277087	Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1037724	chr11:77061945-77250391	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv541091	chr11:77061945-77250391	Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77030600-77086800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr11:77033400-77090400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr11:77034400-77086200	Weak transcription	NHLF	lung
4	chr11:77042800-77080800	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr11:77043400-77082400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:77043400-77083600	Weak transcription	Thymus	Thymus
7	chr11:77043800-77088400	Weak transcription	Colonic Mucosa	Colon
8	chr11:77046200-77077000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:77046200-77092400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr11:77046800-77121600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr11:77047200-77096000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr11:77047400-77089000	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr11:77047400-77090000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr11:77048600-77087800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr11:77052600-77085600	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr11:77055000-77085000	Weak transcription	Primary B cells from peripheral blood	blood
17	chr11:77055200-77083400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr11:77055200-77092200	Weak transcription	Small Intestine	intestine
19	chr11:77055200-77117600	Weak transcription	Pancreas	Pancrea
20	chr11:77057400-77088000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr11:77059800-77085800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:77059800-77088800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr11:77060400-77084000	Weak transcription	Fetal Stomach	stomach
24	chr11:77063200-77081000	Weak transcription	Stomach Mucosa	stomach
25	chr11:77064200-77102800	Weak transcription	Brain Substantia Nigra	brain
26	chr11:77064600-77083000	Weak transcription	Brain Anterior Caudate	brain
27	chr11:77064600-77085400	Weak transcription	Brain Hippocampus Middle	brain
28	chr11:77064800-77085200	Weak transcription	Osteobl	bone
29	chr11:77066000-77084000	Weak transcription	Colon Smooth Muscle	Colon
30	chr11:77066800-77090000	Weak transcription	Brain Angular Gyrus	brain
31	chr11:77067000-77085600	Weak transcription	A549	lung
32	chr11:77067000-77088000	Weak transcription	Gastric	stomach
33	chr11:77067000-77088200	Weak transcription	Liver	Liver
34	chr11:77067000-77092800	Weak transcription	Rectal Smooth Muscle	rectum
35	chr11:77067000-77093800	Weak transcription	Psoas Muscle	Psoas
36	chr11:77067000-77097000	Weak transcription	Esophagus	oesophagus
37	chr11:77067200-77111800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr11:77067600-77083000	Weak transcription	Fetal Kidney	kidney
39	chr11:77068400-77083400	Weak transcription	Aorta	Aorta
40	chr11:77068600-77085600	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr11:77068600-77085800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr11:77068800-77097000	Weak transcription	Brain Cingulate Gyrus	brain
43	chr11:77069000-77083400	Weak transcription	HMEC	breast
44	chr11:77069000-77090000	Weak transcription	Fetal Lung	lung
45	chr11:77069200-77086000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr11:77069600-77085400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr11:77070000-77078200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr11:77070000-77083200	Weak transcription	Brain Germinal Matrix	brain
49	chr11:77070000-77083800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr11:77070000-77102000	Weak transcription	Primary T helper cells PMA-I stimulated	--

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