Variant report

Variant	rs17495623
Chromosome Location	chr6:106975818-106975819
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs12523666	0.86[AFR][1000 genomes]
rs12525004	0.86[AFR][1000 genomes]
rs12526024	0.86[AFR][1000 genomes]
rs12528136	0.86[AFR][1000 genomes]
rs12528406	0.86[AFR][1000 genomes]
rs12529961	0.86[AFR][1000 genomes]
rs12530093	0.86[AFR][1000 genomes]
rs1676030	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs17067395	0.86[AFR][1000 genomes]
rs17067428	0.86[AFR][1000 genomes]
rs17067443	0.88[CEU][hapmap]
rs17495053	0.92[AMR][1000 genomes]
rs17495248	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17495512	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17495678	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17495742	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41292422	0.86[AFR][1000 genomes]
rs41312800	0.86[AFR][1000 genomes]
rs55904932	0.86[AFR][1000 genomes]
rs59962977	0.86[AFR][1000 genomes]
rs61741114	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs66465674	0.92[AMR][1000 genomes]
rs72939427	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs72939431	0.85[AMR][1000 genomes]
rs72939433	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs72939434	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs72939435	0.85[AMR][1000 genomes]
rs72939440	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs72939443	0.92[AMR][1000 genomes]
rs72941307	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72941326	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72941373	0.86[EUR][1000 genomes]
rs72943042	0.86[AFR][1000 genomes]
rs72943087	0.86[AFR][1000 genomes]
rs72943092	0.86[AFR][1000 genomes]
rs72943097	0.86[AFR][1000 genomes]
rs72945007	0.86[AFR][1000 genomes]
rs72945008	0.86[AFR][1000 genomes]
rs72945013	0.86[AFR][1000 genomes]
rs72945015	0.86[AFR][1000 genomes]
rs72945018	0.86[AFR][1000 genomes]
rs72945026	0.86[AFR][1000 genomes]
rs72945029	0.86[AFR][1000 genomes]
rs72945030	0.86[AFR][1000 genomes]
rs72945035	0.86[AFR][1000 genomes]
rs72945036	0.86[AFR][1000 genomes]
rs72945040	0.86[AFR][1000 genomes]
rs72945045	0.86[AFR][1000 genomes]
rs72945046	0.86[AFR][1000 genomes]
rs72945059	0.86[AFR][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	nsv932155	chr6:106281728-107030467	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv532047	chr6:106591482-107143252	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv870375	chr6:106696090-107047892	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv1025510	chr6:106791080-106982400	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv538404	chr6:106791080-106982400	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:106961000-106981000	Weak transcription	Lung	lung
2	chr6:106961000-107001400	Weak transcription	Gastric	stomach
3	chr6:106964800-106991000	Weak transcription	Spleen	Spleen
4	chr6:106964800-107029800	Weak transcription	Small Intestine	intestine
5	chr6:106968200-106976400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr6:106968200-106980800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:106970000-106981000	Weak transcription	Esophagus	oesophagus
8	chr6:106970600-107022400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:106971000-106976200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr6:106972800-106976800	Enhancers	NH-A	brain
11	chr6:106973200-106981000	Weak transcription	Colonic Mucosa	Colon
12	chr6:106973200-106981000	Weak transcription	Fetal Intestine Small	intestine
13	chr6:106973400-106976000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr6:106973400-106976400	Weak transcription	Fetal Thymus	thymus
15	chr6:106973400-106977400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr6:106973400-106979800	Enhancers	Hela-S3	cervix
17	chr6:106973400-106981000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr6:106973400-106985600	Weak transcription	Stomach Mucosa	stomach
19	chr6:106973600-106976000	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr6:106973600-106976000	Weak transcription	Duodenum Mucosa	Duodenum
21	chr6:106973600-106979400	Enhancers	HUVEC	blood vessel
22	chr6:106973600-106980000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr6:106973600-106980800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr6:106973600-106985800	Weak transcription	Thymus	Thymus
25	chr6:106973600-106986000	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr6:106973600-106992800	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr6:106973800-106979400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr6:106973800-106980200	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr6:106974000-106976000	Weak transcription	Fetal Intestine Large	intestine
30	chr6:106974000-106976600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
31	chr6:106974000-106977400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr6:106974000-106980800	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr6:106974000-106980800	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr6:106974400-106976600	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr6:106974400-106978800	Strong transcription	Dnd41	blood
36	chr6:106974600-106979600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr6:106974600-106982400	Strong transcription	Primary hematopoietic stem cells	blood
38	chr6:106974800-106981000	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr6:106974800-106982600	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr6:106975000-106976200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr6:106975000-106976200	Weak transcription	Primary T cells from cord blood	blood
42	chr6:106975000-106976400	Genic enhancers	Primary B cells from cord blood	blood
43	chr6:106975000-106981600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr6:106975000-106983400	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr6:106975200-106976000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr6:106975200-106976000	Flanking Active TSS	NHEK	skin
47	chr6:106975200-106976600	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr6:106975200-106976600	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
49	chr6:106975200-106976600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr6:106975200-106977000	Enhancers	Osteobl	bone

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