Variant report

Variant	rs8076747
Chromosome Location	chr17:17853595-17853596
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:17852605..17855081-chr17:17872067..17874591,2	K562	blood:
2	chr17:17852683..17854657-chr17:17857266..17858926,2	K562	blood:

Extended variants
information (count: 112 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs10048206	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11078403	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11078404	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11078405	0.94[EUR][1000 genomes]
rs11078406	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11078407	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11078408	0.92[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs11078409	0.93[AFR][1000 genomes]
rs11650649	0.88[EUR][1000 genomes]
rs11650890	0.88[EUR][1000 genomes]
rs11656840	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11657773	0.82[EUR][1000 genomes]
rs11657845	0.87[EUR][1000 genomes]
rs11869536	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11870660	0.80[EUR][1000 genomes]
rs11871899	0.94[EUR][1000 genomes]
rs12452219	0.93[EUR][1000 genomes]
rs12452254	0.94[EUR][1000 genomes]
rs12600546	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12603148	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2350977	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28428991	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28537385	0.89[AFR][1000 genomes]
rs2955377	0.81[AFR][1000 genomes]
rs2955378	0.84[AFR][1000 genomes]
rs2955384	0.81[AFR][1000 genomes]
rs2955385	0.81[AFR][1000 genomes]
rs3935506	0.92[AFR][1000 genomes]
rs4077198	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4077828	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4244602	0.94[EUR][1000 genomes]
rs4257260	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4299203	0.80[EUR][1000 genomes]
rs4321247	0.87[EUR][1000 genomes]
rs4341796	0.94[EUR][1000 genomes]
rs4343339	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4368210	0.87[AFR][1000 genomes]
rs4413022	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4414547	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4470201	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4471742	0.95[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs4506969	0.87[AFR][1000 genomes]
rs4534911	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4553680	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4584886	0.87[AFR][1000 genomes]
rs4616340	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4635395	0.91[AFR][1000 genomes]
rs4925123	0.88[EUR][1000 genomes]
rs4925125	0.89[EUR][1000 genomes]
rs4925126	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4925129	0.94[EUR][1000 genomes]
rs4925130	0.92[EUR][1000 genomes]
rs5002487	0.94[EUR][1000 genomes]
rs57728924	0.80[EUR][1000 genomes]
rs62064156	0.94[EUR][1000 genomes]
rs62064158	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62072049	0.80[EUR][1000 genomes]
rs62072050	0.87[AFR][1000 genomes]
rs6502619	0.88[EUR][1000 genomes]
rs6502622	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6502624	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6502625	0.86[EUR][1000 genomes]
rs6502626	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6502627	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6502633	0.81[AFR][1000 genomes]
rs66531105	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67253360	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7207043	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7207395	0.94[EUR][1000 genomes]
rs7207821	0.87[AFR][1000 genomes]
rs7208190	0.92[EUR][1000 genomes]
rs7213225	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7214002	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7214536	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7215524	0.83[AFR][1000 genomes]
rs7222480	0.94[EUR][1000 genomes]
rs7224047	0.81[AFR][1000 genomes]
rs7503334	0.88[EUR][1000 genomes]
rs8065416	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8065563	0.88[EUR][1000 genomes]
rs8065970	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8066982	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8068175	0.80[EUR][1000 genomes]
rs8068820	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8070128	0.90[EUR][1000 genomes]
rs8070722	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8070748	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8071238	0.87[AFR][1000 genomes]
rs8073001	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8075965	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8077530	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8078105	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8078138	0.94[EUR][1000 genomes]
rs8078583	0.94[EUR][1000 genomes]
rs8080823	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs950966	0.88[EUR][1000 genomes]
rs9635697	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9635698	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9890341	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9896837	0.84[AFR][1000 genomes]
rs9904163	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9905284	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9908832	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9912895	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9913724	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9914127	0.94[AFR][1000 genomes];0.81[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	nsv531183	chr17:17571035-18205309	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv907766	chr17:17682484-17957348	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
4	nsv533142	chr17:17691726-18236686	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
5	nsv482879	chr17:17802463-17989273	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv510701	chr17:17850474-17955485	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17828200-17861000	Weak transcription	Primary B cells from cord blood	blood
2	chr17:17828600-17858000	Weak transcription	Primary B cells from peripheral blood	blood
3	chr17:17839400-17858800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr17:17839400-17860200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr17:17839800-17859800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr17:17844800-17859800	Weak transcription	Colonic Mucosa	Colon
7	chr17:17844800-17861400	Weak transcription	Liver	Liver
8	chr17:17847000-17858000	Weak transcription	Adipose Nuclei	Adipose
9	chr17:17847000-17860200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr17:17847200-17854000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr17:17847200-17861400	Weak transcription	Fetal Kidney	kidney
12	chr17:17847400-17856000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr17:17847400-17856800	Weak transcription	Thymus	Thymus
14	chr17:17847400-17859800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr17:17847400-17860200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr17:17847400-17860600	Weak transcription	K562	blood
17	chr17:17847400-17861600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr17:17847400-17864000	Weak transcription	Aorta	Aorta
19	chr17:17847600-17854400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr17:17847600-17855200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr17:17847600-17856000	Weak transcription	Primary T cells from cord blood	blood
22	chr17:17847600-17856000	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr17:17847600-17857000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr17:17847600-17860200	Weak transcription	Hela-S3	cervix
25	chr17:17847800-17854000	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr17:17847800-17856200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr17:17847800-17856600	Weak transcription	Fetal Thymus	thymus
28	chr17:17848200-17854600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr17:17848200-17856800	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr17:17848400-17855200	Weak transcription	Brain Germinal Matrix	brain
31	chr17:17848400-17858000	Weak transcription	Brain Hippocampus Middle	brain
32	chr17:17848400-17859800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr17:17848400-17861200	Weak transcription	Fetal Muscle Leg	muscle
34	chr17:17848400-17862200	Weak transcription	Fetal Muscle Trunk	muscle
35	chr17:17848600-17855200	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr17:17848600-17856800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr17:17848600-17858000	Weak transcription	HSMMtube	muscle
38	chr17:17848600-17860600	Weak transcription	Colon Smooth Muscle	Colon
39	chr17:17848600-17861400	Weak transcription	Brain Substantia Nigra	brain
40	chr17:17848600-17861600	Weak transcription	Rectal Smooth Muscle	rectum
41	chr17:17848800-17856800	Weak transcription	Stomach Smooth Muscle	stomach
42	chr17:17848800-17858000	Weak transcription	Fetal Heart	heart
43	chr17:17848800-17863000	Weak transcription	Fetal Brain Female	brain
44	chr17:17849000-17855000	Weak transcription	Brain Anterior Caudate	brain
45	chr17:17849000-17861600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr17:17849200-17855800	Enhancers	Muscle Satellite Cultured Cells	--
47	chr17:17849600-17854600	Weak transcription	A549	lung
48	chr17:17849600-17858000	Weak transcription	Fetal Intestine Large	intestine
49	chr17:17849600-17858200	Weak transcription	Duodenum Mucosa	Duodenum
50	chr17:17849600-17860400	Weak transcription	Small Intestine	intestine

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