Variant report

Variant	rs861752
Chromosome Location	chr6:101282955-101282956
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11155726	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12189857	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17061209	0.91[CEU][hapmap];1.00[CHB][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17061230	0.86[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17673031	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2749130	1.00[ASN][1000 genomes]
rs2756040	0.86[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2895068	0.83[EUR][1000 genomes]
rs592463	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs596601	1.00[CHB][hapmap]
rs600653	1.00[ASN][1000 genomes]
rs601360	1.00[CEU][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs606032	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs609522	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs612117	1.00[ASN][1000 genomes]
rs612459	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs613338	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs614097	1.00[ASN][1000 genomes]
rs617365	0.85[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs625745	0.85[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs626411	1.00[ASN][1000 genomes]
rs635258	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs640315	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs648360	0.82[EUR][1000 genomes]
rs668932	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs673138	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs674589	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs705594	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs705595	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs705598	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs705601	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs705602	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs705609	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs705612	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs705618	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs705619	0.81[EUR][1000 genomes]
rs72944877	1.00[ASN][1000 genomes]
rs72946427	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72947091	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72951137	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72951161	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7755696	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs817226	1.00[ASN][1000 genomes]
rs817227	1.00[ASN][1000 genomes]
rs817234	1.00[ASN][1000 genomes]
rs846784	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs846790	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs846796	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949535	chr6:100740293-101469052	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1020692	chr6:101136992-101426071	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv886457	chr6:101158950-101487473	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv1016353	chr6:101172705-101304041	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1020400	chr6:101172705-101981665	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv538390	chr6:101172705-101981665	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv1019213	chr6:101225650-101623140	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv538391	chr6:101225650-101623140	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
9	esv2763587	chr6:101277874-101510491	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs861752	ASCC3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:101184400-101304600	Weak transcription	Hela-S3	cervix
2	chr6:101215200-101311400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr6:101233600-101306600	Weak transcription	K562	blood
4	chr6:101238000-101296200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr6:101244600-101296200	Weak transcription	NH-A	brain
6	chr6:101249400-101298200	Weak transcription	A549	lung
7	chr6:101252200-101293800	Weak transcription	HMEC	breast
8	chr6:101252200-101295600	Weak transcription	NHDF-Ad	bronchial
9	chr6:101253200-101294800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr6:101253400-101284400	Weak transcription	Primary B cells from cord blood	blood
11	chr6:101253400-101295600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr6:101253400-101295800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr6:101253400-101304200	Weak transcription	Primary T cells from cord blood	blood
14	chr6:101253600-101284000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr6:101253800-101292600	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr6:101253800-101295600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr6:101257600-101294200	Weak transcription	Osteobl	bone
18	chr6:101258200-101295600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr6:101264000-101295600	Weak transcription	HepG2	liver
20	chr6:101269200-101326600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr6:101271200-101296000	Weak transcription	Ovary	ovary
22	chr6:101271400-101296000	Weak transcription	HSMMtube	muscle
23	chr6:101272200-101289800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr6:101273600-101291200	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr6:101274600-101295600	Weak transcription	Fetal Thymus	thymus
26	chr6:101275800-101314400	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr6:101276600-101284400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr6:101276600-101294200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr6:101276600-101295400	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr6:101277000-101290000	Weak transcription	Fetal Lung	lung
31	chr6:101277000-101295600	Weak transcription	Primary B cells from peripheral blood	blood
32	chr6:101277200-101295800	Weak transcription	Duodenum Mucosa	Duodenum
33	chr6:101277400-101299800	Weak transcription	Esophagus	oesophagus
34	chr6:101277600-101284600	Weak transcription	Primary hematopoietic stem cells	blood
35	chr6:101277600-101288800	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr6:101277600-101293600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr6:101277600-101295400	Weak transcription	Placenta	Placenta
38	chr6:101277600-101295600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr6:101277600-101295800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr6:101277600-101296000	Weak transcription	Fetal Intestine Large	intestine
41	chr6:101277600-101296400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr6:101277600-101296400	Weak transcription	Fetal Muscle Leg	muscle
43	chr6:101277600-101299600	Weak transcription	Thymus	Thymus
44	chr6:101277600-101299800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr6:101277800-101284000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr6:101277800-101289800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr6:101278000-101284400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr6:101278000-101306600	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr6:101278000-101313800	Weak transcription	Fetal Intestine Small	intestine
50	chr6:101278400-101289400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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