Variant report

Variant	rs3849753
Chromosome Location	chr5:94794097-94794098
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:94789443..94791165-chr5:94792736..94794259,2	K562	blood:
2	chr5:94792884..94795047-chr5:94796049..94797784,2	MCF-7	breast:
3	chr5:94792282..94796231-chr5:94797879..94800684,4	K562	blood:
4	chr5:94792282..94794324-chr5:94798104..94800472,2	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];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10036691	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10040367	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10045714	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10055673	0.92[ASN][1000 genomes]
rs10056208	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10056278	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10057391	0.92[ASN][1000 genomes]
rs10057420	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10063417	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10070711	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10075022	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10077070	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10223061	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10223134	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10223147	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10476648	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10476649	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10476652	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10476653	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10476654	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10491246	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10515228	0.89[ASN][1000 genomes]
rs1062073	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1062075	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1062077	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1062083	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10866765	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11135426	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11135429	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1139111	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1139114	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11948407	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11948489	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11949044	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11950190	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11953160	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11953633	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11958720	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11959401	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12054689	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12054916	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12055264	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12189111	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13355280	0.92[ASN][1000 genomes]
rs17084769	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17084779	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17084816	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17084817	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17084839	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17084852	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17084867	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17084873	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17084904	0.89[ASN][1000 genomes]
rs17084909	0.88[ASN][1000 genomes]
rs17084927	0.84[ASN][1000 genomes]
rs1833894	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2042871	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2278224	0.92[ASN][1000 genomes]
rs2303649	0.89[ASN][1000 genomes]
rs2303650	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28376538	0.92[ASN][1000 genomes]
rs28491117	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3776875	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3776876	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3822616	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3822617	0.92[ASN][1000 genomes]
rs3822618	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3849752	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3849754	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3849755	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3931769	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55679859	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58373522	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58405178	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60954465	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6556874	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6556876	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6866194	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6878974	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6880676	0.89[ASN][1000 genomes]
rs6881618	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6891486	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6897586	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73141954	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73143969	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73143972	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73143974	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73145973	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73145974	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73145991	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73777201	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73777219	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73777221	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73778853	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7703285	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7703948	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7705862	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7706027	0.86[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs7706837	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7707851	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7707854	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7709709	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7709828	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7710228	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7715350	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7722225	0.84[ASN][1000 genomes]
rs7722969	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7723951	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7724147	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7724683	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7724730	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7725190	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7725219	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7725419	0.84[ASN][1000 genomes]
rs7727453	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7727455	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7727608	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7733476	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7737266	0.89[ASN][1000 genomes]
rs890739	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9285017	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9314142	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9314143	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9314144	0.92[ASN][1000 genomes]
rs9314145	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9314146	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9314147	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9885158	0.92[ASN][1000 genomes]
rs9885192	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9885291	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9885310	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[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
rs3849753	TTC37	cis	Whole Blood	GTEx

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:94777000-94798600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:94780400-94810800	Weak transcription	Pancreas	Pancrea
3	chr5:94782000-94810200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr5:94782600-94800000	Weak transcription	HMEC	breast
5	chr5:94783200-94796000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:94783400-94795000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr5:94783400-94795800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr5:94783400-94798600	Weak transcription	Gastric	stomach
9	chr5:94783400-94798600	Weak transcription	Left Ventricle	heart
10	chr5:94783600-94797200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr5:94783600-94798400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr5:94785000-94798600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:94785000-94798600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr5:94785200-94796000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:94785200-94796000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr5:94785200-94796200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr5:94785600-94795800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr5:94788400-94811200	Weak transcription	Small Intestine	intestine
19	chr5:94788600-94798600	Weak transcription	Lung	lung
20	chr5:94788800-94822000	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr5:94789000-94798600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr5:94789600-94798400	Weak transcription	HSMMtube	muscle
23	chr5:94789800-94795000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr5:94790000-94798600	Weak transcription	Aorta	Aorta
25	chr5:94790400-94798400	Weak transcription	Fetal Muscle Leg	muscle
26	chr5:94790600-94810800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr5:94791000-94798600	Weak transcription	NH-A	brain
28	chr5:94791200-94798600	Weak transcription	Brain Angular Gyrus	brain
29	chr5:94791400-94798400	Weak transcription	Placenta	Placenta
30	chr5:94791800-94796000	Weak transcription	Osteobl	bone
31	chr5:94791800-94811200	Weak transcription	Hela-S3	cervix
32	chr5:94792000-94795800	Weak transcription	Primary B cells from cord blood	blood
33	chr5:94792600-94794800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr5:94792600-94798800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr5:94792600-94817800	Weak transcription	Brain Substantia Nigra	brain
36	chr5:94792600-94821800	Weak transcription	Right Ventricle	heart
37	chr5:94793200-94796000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr5:94793400-94795600	Weak transcription	Primary T cells from cord blood	blood
39	chr5:94793400-94795600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr5:94793400-94797400	Weak transcription	Brain Germinal Matrix	brain
41	chr5:94793400-94797600	Weak transcription	HSMM	muscle
42	chr5:94793400-94798400	Weak transcription	HUVEC	blood vessel
43	chr5:94793400-94801200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr5:94793600-94795200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr5:94793600-94795200	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr5:94793600-94795800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr5:94793600-94798600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr5:94794000-94795800	Weak transcription	Adipose Nuclei	Adipose
49	chr5:94794000-94796000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr5:94794000-94796000	Weak transcription	Dnd41	blood

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