Variant report

Variant	rs17084817
Chromosome Location	chr5:94801063-94801064
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	chr5:94797653..94799389-chr5:94800929..94802912,2	K562	blood:

Extended variants
information (count: 134 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:132)

rs_ID	r²[population]
rs10036119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10036691	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10040367	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10045714	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10055673	0.95[ASN][1000 genomes]
rs10056208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10056278	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10057391	0.95[ASN][1000 genomes]
rs10057420	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10063417	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10070711	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10075022	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10077070	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10223061	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10223134	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10223147	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10476648	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10476649	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10476652	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10476653	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10476654	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10491246	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10515228	0.92[ASN][1000 genomes]
rs1062073	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1062075	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1062077	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1062083	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10866765	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11135426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11135429	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1139111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1139114	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11948407	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11948489	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11949044	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11950190	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11953160	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11953633	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11958720	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11959401	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12054689	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12054916	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12055264	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12189111	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13355280	0.95[ASN][1000 genomes]
rs17084769	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17084779	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17084816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17084839	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17084852	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17084867	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17084873	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17084904	0.92[ASN][1000 genomes]
rs17084909	0.91[ASN][1000 genomes]
rs17084927	0.88[ASN][1000 genomes]
rs1833894	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2042871	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2278224	0.95[ASN][1000 genomes]
rs2303649	0.92[ASN][1000 genomes]
rs2303650	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28376538	0.95[ASN][1000 genomes]
rs28491117	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3776875	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3776876	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3822616	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3822617	0.95[ASN][1000 genomes]
rs3822618	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3849752	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3849753	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3849754	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3849755	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3931769	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55679859	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58373522	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58405178	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60954465	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6556874	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6556876	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6866194	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6878974	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6880676	0.92[ASN][1000 genomes]
rs6881618	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6891486	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6897586	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73141954	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73143969	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73143972	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73143974	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73145973	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73145974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73145991	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73777201	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73777219	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73777221	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73778853	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7703285	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7703948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7705862	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7706027	0.86[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs7706837	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7707851	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7707854	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7709709	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7709828	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7710228	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7715350	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7722225	0.88[ASN][1000 genomes]
rs7722969	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7723951	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7724147	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7724683	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7724730	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7725190	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7725219	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7725419	0.88[ASN][1000 genomes]
rs7727453	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7727455	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7727608	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7733476	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7737266	0.92[ASN][1000 genomes]
rs890739	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9285017	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9314142	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9314143	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9314144	0.95[ASN][1000 genomes]
rs9314145	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9314146	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9314147	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9885158	0.95[ASN][1000 genomes]
rs9885192	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9885291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9885310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882388	chr5:94764006-94925849	Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv598954	chr5:94783175-94859599	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17084817	TTC37	cis	Whole Blood	GTEx

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:94780400-94810800	Weak transcription	Pancreas	Pancrea
2	chr5:94782000-94810200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr5:94788400-94811200	Weak transcription	Small Intestine	intestine
4	chr5:94788800-94822000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr5:94790600-94810800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:94791800-94811200	Weak transcription	Hela-S3	cervix
7	chr5:94792600-94817800	Weak transcription	Brain Substantia Nigra	brain
8	chr5:94792600-94821800	Weak transcription	Right Ventricle	heart
9	chr5:94793400-94801200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr5:94794400-94810800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr5:94794600-94804000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr5:94794600-94810800	Weak transcription	Spleen	Spleen
13	chr5:94794800-94805600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:94794800-94807400	Weak transcription	Psoas Muscle	Psoas
15	chr5:94794800-94817600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr5:94795000-94803200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr5:94795000-94805600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr5:94795200-94805600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr5:94795200-94826600	Weak transcription	NHEK	skin
20	chr5:94795400-94810400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr5:94795400-94814000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr5:94795600-94803800	Weak transcription	Fetal Heart	heart
23	chr5:94795600-94807200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr5:94795800-94804800	Strong transcription	Adipose Nuclei	Adipose
25	chr5:94795800-94805400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:94796000-94802600	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr5:94796000-94803000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr5:94796000-94805600	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr5:94796000-94805600	Strong transcription	Dnd41	blood
30	chr5:94796000-94805800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr5:94796000-94806200	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr5:94796000-94810800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr5:94796200-94801200	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr5:94796200-94805600	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr5:94796600-94803000	Weak transcription	K562	blood
36	chr5:94796600-94803800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr5:94796800-94810800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr5:94797000-94806200	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr5:94797000-94817000	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr5:94797000-94819200	Weak transcription	HepG2	liver
41	chr5:94797200-94805600	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr5:94797200-94807200	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr5:94797200-94811200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr5:94797400-94810800	Weak transcription	Fetal Intestine Small	intestine
45	chr5:94797600-94805600	Strong transcription	HSMM	muscle
46	chr5:94798000-94806200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr5:94798200-94804600	Strong transcription	Primary hematopoietic stem cells	blood
48	chr5:94798200-94805600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr5:94798200-94805600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr5:94798200-94805600	Strong transcription	NHDF-Ad	bronchial

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