Variant report

Variant	rs4944159
Chromosome Location	chr11:77037844-77037845
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1037452	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10501425	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10899372	0.95[ASN][1000 genomes]
rs10899373	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10899377	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11237190	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11237198	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11237200	0.86[AMR][1000 genomes]
rs11820118	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11828786	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs12223138	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12420360	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12421190	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1453341	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17135670	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs17135689	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2100393	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2467481	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2602460	0.85[ASN][1000 genomes]
rs2602461	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2602462	0.83[ASN][1000 genomes]
rs2602466	0.84[ASN][1000 genomes]
rs2602471	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2602472	0.84[AFR][1000 genomes]
rs2602473	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2602474	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2602475	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2602481	0.86[AMR][1000 genomes]
rs2725829	0.88[ASN][1000 genomes]
rs2725834	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2729749	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2729750	0.93[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2729751	0.85[ASN][1000 genomes]
rs2729752	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2729756	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2729757	0.90[ASN][1000 genomes]
rs2729763	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2729775	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2844327	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2844335	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2852381	0.84[ASN][1000 genomes]
rs2852383	0.85[ASN][1000 genomes]
rs2852388	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2852389	1.00[EUR][1000 genomes]
rs2853084	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2853085	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2853091	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2853095	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2853098	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2888377	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4092275	0.83[ASN][1000 genomes]
rs4944160	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57305199	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57440754	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6592721	1.00[EUR][1000 genomes]
rs7105662	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs724369	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs733358	0.82[AMR][1000 genomes]
rs745458	0.84[ASN][1000 genomes]
rs876319	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs896841	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs947809	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs947810	0.83[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	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

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77027400-77043000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:77027600-77043000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr11:77028000-77068400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr11:77028200-77066000	Weak transcription	Fetal Kidney	kidney
5	chr11:77028400-77043000	Weak transcription	Fetal Lung	lung
6	chr11:77030400-77043000	Weak transcription	Colon Smooth Muscle	Colon
7	chr11:77030600-77086800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr11:77030800-77046800	Weak transcription	Small Intestine	intestine
9	chr11:77030800-77054200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr11:77031200-77043000	Weak transcription	Colonic Mucosa	Colon
11	chr11:77031600-77046600	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr11:77031600-77066400	Weak transcription	Gastric	stomach
13	chr11:77031600-77073800	Weak transcription	Spleen	Spleen
14	chr11:77031800-77070400	Weak transcription	Fetal Brain Male	brain
15	chr11:77032000-77038000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:77032000-77038000	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr11:77032000-77038000	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr11:77032200-77066400	Weak transcription	Lung	lung
19	chr11:77032400-77043000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:77032600-77043200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr11:77032600-77046200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr11:77033000-77038000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr11:77033400-77067200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr11:77033400-77090400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr11:77033600-77046800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr11:77033800-77043000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr11:77033800-77043000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr11:77033800-77043000	Weak transcription	Esophagus	oesophagus
29	chr11:77033800-77043000	Weak transcription	NHEK	skin
30	chr11:77033800-77045200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr11:77033800-77059200	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr11:77034000-77043000	Weak transcription	Brain Germinal Matrix	brain
33	chr11:77034000-77043000	Weak transcription	Fetal Muscle Trunk	muscle
34	chr11:77034400-77042600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr11:77034400-77042800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr11:77034400-77043000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr11:77034400-77043000	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr11:77034400-77043000	Weak transcription	Aorta	Aorta
39	chr11:77034400-77043000	Weak transcription	Ovary	ovary
40	chr11:77034400-77043000	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr11:77034400-77043000	Weak transcription	Thymus	Thymus
42	chr11:77034400-77043000	Weak transcription	NHDF-Ad	bronchial
43	chr11:77034400-77043400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr11:77034400-77043400	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr11:77034400-77044600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr11:77034400-77045000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr11:77034400-77047000	Weak transcription	Left Ventricle	heart
48	chr11:77034400-77054600	Weak transcription	Pancreas	Pancrea
49	chr11:77034400-77059200	Weak transcription	Psoas Muscle	Psoas
50	chr11:77034400-77086200	Weak transcription	NHLF	lung

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