Variant report

Variant	rs17144974
Chromosome Location	chr5:118533499-118533500
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10051559	0.87[CHD][hapmap];0.85[JPT][hapmap]
rs10452544	1.00[AMR][1000 genomes]
rs10452545	1.00[AMR][1000 genomes]
rs12055244	0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1363223	1.00[GIH][hapmap]
rs17145013	0.85[JPT][hapmap]
rs2174433	0.85[JPT][hapmap]
rs2271059	0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs35366387	0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs57574427	1.00[AMR][1000 genomes]
rs59344448	1.00[AMR][1000 genomes]
rs59473275	1.00[AMR][1000 genomes]
rs59758980	1.00[AMR][1000 genomes]
rs6860412	1.00[EUR][1000 genomes]
rs73235231	1.00[AMR][1000 genomes]
rs73235244	1.00[AMR][1000 genomes]
rs73248908	1.00[AMR][1000 genomes]
rs73248911	1.00[AMR][1000 genomes]
rs73248974	1.00[AMR][1000 genomes]
rs73248976	1.00[AMR][1000 genomes]
rs73248978	1.00[AMR][1000 genomes]
rs73248981	1.00[AMR][1000 genomes]
rs73248988	1.00[AMR][1000 genomes]
rs73248995	1.00[AMR][1000 genomes]
rs73250803	1.00[AMR][1000 genomes]
rs73250806	1.00[AMR][1000 genomes]
rs73250810	1.00[AMR][1000 genomes]
rs73250902	1.00[AMR][1000 genomes]
rs73252305	1.00[AMR][1000 genomes]
rs73252308	1.00[AMR][1000 genomes]
rs73252311	1.00[AMR][1000 genomes]
rs73252320	1.00[AMR][1000 genomes]
rs73252322	1.00[AMR][1000 genomes]
rs9327092	0.83[CHB][hapmap];0.88[CHD][hapmap];0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882774	chr5:118325429-118553470	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv462426	chr5:118465249-118621672	Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv599564	chr5:118465249-118621672	ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1016595	chr5:118468658-118621672	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1019788	chr5:118488501-118607405	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv537882	chr5:118488501-118607405	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv1034616	chr5:118506348-118600391	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
8	nsv1031914	chr5:118516878-118589497	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118483000-118541400	Weak transcription	NHEK	skin
2	chr5:118485800-118534000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr5:118485800-118572200	Weak transcription	Small Intestine	intestine
4	chr5:118486000-118534200	Weak transcription	Brain Angular Gyrus	brain
5	chr5:118486000-118588600	Weak transcription	Right Ventricle	heart
6	chr5:118486200-118534200	Weak transcription	Colon Smooth Muscle	Colon
7	chr5:118489800-118591200	Weak transcription	Colonic Mucosa	Colon
8	chr5:118494600-118534600	Weak transcription	Psoas Muscle	Psoas
9	chr5:118497800-118534400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr5:118497800-118535200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr5:118498000-118534400	Weak transcription	Lung	lung
12	chr5:118498000-118584200	Weak transcription	Spleen	Spleen
13	chr5:118499800-118534400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr5:118501800-118533800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr5:118501800-118533800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr5:118503800-118585800	Weak transcription	NH-A	brain
17	chr5:118505400-118554600	Weak transcription	HepG2	liver
18	chr5:118507800-118580200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr5:118510800-118533800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr5:118514200-118534000	Weak transcription	Brain Germinal Matrix	brain
21	chr5:118514400-118589000	Weak transcription	Pancreas	Pancrea
22	chr5:118514400-118591400	Weak transcription	Esophagus	oesophagus
23	chr5:118514600-118554800	Weak transcription	NHDF-Ad	bronchial
24	chr5:118516000-118544000	Weak transcription	Hela-S3	cervix
25	chr5:118516200-118538000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr5:118516200-118554800	Weak transcription	Osteobl	bone
27	chr5:118521200-118571000	Weak transcription	HMEC	breast
28	chr5:118524200-118533600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr5:118524200-118570800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr5:118524400-118571000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr5:118524600-118535400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr5:118524600-118536600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr5:118524600-118537400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr5:118524600-118561200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr5:118524600-118584200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr5:118524800-118535200	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr5:118525000-118535800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr5:118525200-118535800	Strong transcription	Primary B cells from peripheral blood	blood
39	chr5:118525400-118536000	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr5:118525400-118541000	Strong transcription	Liver	Liver
41	chr5:118525600-118536200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr5:118526000-118536000	Strong transcription	Primary B cells from cord blood	blood
43	chr5:118526400-118534000	Weak transcription	Rectal Smooth Muscle	rectum
44	chr5:118527200-118534000	Weak transcription	Fetal Brain Male	brain
45	chr5:118527400-118533800	Weak transcription	HSMM	muscle
46	chr5:118527600-118537400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr5:118527800-118549000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr5:118528600-118536000	Weak transcription	HUVEC	blood vessel
49	chr5:118529400-118536200	Strong transcription	Dnd41	blood
50	chr5:118529600-118534200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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