Variant report

Variant	rs17811451
Chromosome Location	chr6:81232448-81232449
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1020044	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10498922	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10498923	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11752368	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11752731	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11963755	0.96[EUR][1000 genomes]
rs11963784	0.96[EUR][1000 genomes]
rs11963880	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11966105	0.96[EUR][1000 genomes]
rs11966395	0.96[EUR][1000 genomes]
rs11969171	0.96[EUR][1000 genomes]
rs1370139	0.96[EUR][1000 genomes]
rs1436876	0.96[EUR][1000 genomes]
rs1545108	0.96[EUR][1000 genomes]
rs17754916	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17755364	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17755544	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17811367	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2118146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4538675	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4596443	0.84[EUR][1000 genomes]
rs4607395	0.96[EUR][1000 genomes]
rs4639292	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56293655	0.96[EUR][1000 genomes]
rs57091572	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57688593	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57846754	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57961232	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs58167343	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6927060	0.96[EUR][1000 genomes]
rs72900010	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72900057	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72901930	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72901972	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72901979	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72901986	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72901988	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72903917	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72903939	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72903959	0.86[EUR][1000 genomes]
rs72903988	0.91[EUR][1000 genomes]
rs7765619	0.96[EUR][1000 genomes]
rs7768393	0.96[EUR][1000 genomes]
rs7768485	0.96[EUR][1000 genomes]
rs9443793	0.96[EUR][1000 genomes]
rs9449036	0.95[EUR][1000 genomes]
rs9449037	0.96[EUR][1000 genomes]
rs9449038	0.88[EUR][1000 genomes]
rs9449042	0.83[EUR][1000 genomes]
rs9449043	0.96[EUR][1000 genomes]
rs9449045	0.96[EUR][1000 genomes]
rs9449046	0.96[EUR][1000 genomes]
rs9449049	0.96[EUR][1000 genomes]
rs9449050	0.96[EUR][1000 genomes]
rs998759	0.85[AMR][1000 genomes];0.91[EUR][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	nsv531333	chr6:81042427-81836484	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1019670	chr6:81086504-81569984	ZNF genes & repeats Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv915714	chr6:81134888-81366749	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv886311	chr6:81166178-81239971	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv886312	chr6:81166178-81309481	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv886313	chr6:81177227-81239971	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:81227000-81232800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr6:81227200-81232600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr6:81227600-81232800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr6:81229800-81233200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr6:81230200-81234000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:81230400-81237800	Weak transcription	Pancreas	Pancrea
7	chr6:81230600-81232600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr6:81230800-81234000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr6:81231000-81232800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr6:81231200-81232600	Enhancers	Stomach Smooth Muscle	stomach
11	chr6:81231400-81233600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:81231600-81233000	Enhancers	HUVEC	blood vessel
13	chr6:81231600-81233400	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr6:81231800-81232600	Enhancers	Fetal Kidney	kidney
15	chr6:81231800-81232800	Enhancers	Fetal Lung	lung
16	chr6:81231800-81233200	Enhancers	NH-A	brain
17	chr6:81231800-81233400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr6:81231800-81233400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr6:81231800-81233600	Enhancers	Fetal Stomach	stomach
20	chr6:81231800-81233600	Enhancers	HSMM	muscle
21	chr6:81231800-81233800	Enhancers	NHDF-Ad	bronchial
22	chr6:81231800-81234000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr6:81231800-81234000	Enhancers	Muscle Satellite Cultured Cells	--
24	chr6:81231800-81234200	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr6:81231800-81234200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr6:81232000-81232800	Weak transcription	Right Ventricle	heart
27	chr6:81232000-81233000	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr6:81232000-81233800	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr6:81232000-81234000	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr6:81232000-81234200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr6:81232200-81232600	Weak transcription	Fetal Muscle Leg	muscle
32	chr6:81232200-81232800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr6:81232200-81232800	Enhancers	Brain Substantia Nigra	brain
34	chr6:81232200-81233200	Weak transcription	Esophagus	oesophagus
35	chr6:81232200-81233200	Enhancers	Rectal Smooth Muscle	rectum
36	chr6:81232200-81233800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr6:81232400-81232600	Active TSS	Brain Anterior Caudate	brain
38	chr6:81232400-81232600	Enhancers	Brain Hippocampus Middle	brain
39	chr6:81232400-81232800	Enhancers	Brain Germinal Matrix	brain
40	chr6:81232400-81233200	Flanking Active TSS	Fetal Brain Female	brain
41	chr6:81232400-81233400	Active TSS	Brain Cingulate Gyrus	brain
42	chr6:81232400-81233600	Enhancers	Colon Smooth Muscle	Colon
43	chr6:81232400-81233600	Enhancers	Osteobl	bone
44	chr6:81232400-81233800	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr6:81232400-81234000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr6:81232400-81234000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr6:81232400-81234000	Enhancers	Fetal Heart	heart
48	chr6:81232400-81234000	Enhancers	HSMMtube	muscle
49	chr6:81232400-81234000	Enhancers	NHLF	lung
50	chr6:81232400-81234200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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