Variant report

Variant	rs6151892
Chromosome Location	chr5:80118881-80118882
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1008119	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10942930	0.92[ASN][1000 genomes]
rs10942931	0.83[ASN][1000 genomes]
rs12522063	0.83[ASN][1000 genomes]
rs1428030	0.82[CHD][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap]
rs1592878	0.89[ASN][1000 genomes]
rs16878204	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1805355	0.82[CHD][hapmap];0.83[JPT][hapmap];0.95[MEX][hapmap]
rs1979005	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3776969	0.82[CHD][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap]
rs3797877	0.83[JPT][hapmap]
rs3797885	0.82[CHD][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap]
rs3797886	0.82[CHD][hapmap];0.86[JPT][hapmap];0.90[MEX][hapmap]
rs3797897	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4703819	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4704685	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4704686	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4704687	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55928960	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56382955	0.84[ASN][1000 genomes]
rs57067128	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58508689	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6151639	0.84[CHD][hapmap];0.83[JPT][hapmap]
rs6151826	0.84[CHB][hapmap];0.95[JPT][hapmap]
rs6151901	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6151906	0.89[ASN][1000 genomes]
rs6151909	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6864713	0.81[ASN][1000 genomes]
rs6869680	0.80[ASN][1000 genomes]
rs6885935	0.83[ASN][1000 genomes]
rs72765588	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72765590	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72765599	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72767343	0.81[ASN][1000 genomes]
rs73137557	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv882231	chr5:79984714-80187929	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv598747	chr5:79996632-80322712	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1016100	chr5:80023679-80254194	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1021784	chr5:80023679-80313586	ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv537787	chr5:80023679-80313586	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80042800-80173400	Weak transcription	Right Ventricle	heart
2	chr5:80085200-80127600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr5:80087400-80132800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr5:80087800-80167400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr5:80089400-80120200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:80090400-80124600	Weak transcription	Colon Smooth Muscle	Colon
7	chr5:80090600-80124000	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr5:80091200-80144400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr5:80091400-80124600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:80091400-80124600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr5:80091400-80124600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr5:80091400-80181000	Weak transcription	Small Intestine	intestine
13	chr5:80091800-80125200	Weak transcription	Osteobl	bone
14	chr5:80093000-80124200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr5:80093800-80123800	Weak transcription	Pancreas	Pancrea
16	chr5:80094800-80124000	Weak transcription	GM12878-XiMat	blood
17	chr5:80097000-80124400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr5:80097600-80121400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr5:80097600-80121600	Weak transcription	Brain Hippocampus Middle	brain
20	chr5:80097800-80121600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr5:80098400-80121600	Weak transcription	Brain Anterior Caudate	brain
22	chr5:80099200-80121400	Weak transcription	Fetal Lung	lung
23	chr5:80103800-80144600	Weak transcription	Gastric	stomach
24	chr5:80106400-80119400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr5:80107200-80123800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr5:80109800-80119800	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr5:80109800-80121600	Weak transcription	Fetal Muscle Leg	muscle
28	chr5:80110000-80123800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr5:80110000-80124800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr5:80110600-80124600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr5:80110600-80145200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr5:80110800-80119200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr5:80110800-80124200	Weak transcription	Fetal Muscle Trunk	muscle
34	chr5:80110800-80124400	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr5:80110800-80124600	Weak transcription	Placenta	Placenta
36	chr5:80110800-80124800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr5:80111000-80123600	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr5:80111000-80123600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr5:80111000-80123800	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr5:80111000-80124000	Weak transcription	HepG2	liver
41	chr5:80111400-80124600	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr5:80111400-80131800	Weak transcription	Hela-S3	cervix
43	chr5:80111600-80124200	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr5:80112000-80123800	Weak transcription	Duodenum Mucosa	Duodenum
45	chr5:80112200-80124400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr5:80113200-80119400	Weak transcription	Fetal Thymus	thymus
47	chr5:80113200-80123800	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr5:80113200-80124000	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr5:80113200-80125200	Weak transcription	Fetal Kidney	kidney
50	chr5:80113200-80128200	Weak transcription	HSMM	muscle

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