Variant report

Variant	rs2731818
Chromosome Location	chr5:94796041-94796042
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:94792282..94796231-chr5:94797879..94800684,4	K562	blood:
2	chr5:94796017..94797723-chr5:94996114..94998277,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1123965	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1162859	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12516085	0.86[JPT][hapmap]
rs12657120	0.86[JPT][hapmap]
rs13162779	0.90[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2059786	0.92[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2560256	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2560275	0.95[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2560276	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2560277	0.92[ASW][hapmap];0.95[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.94[MKK][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2731816	0.85[YRI][hapmap]
rs2731828	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2731829	0.86[JPT][hapmap]
rs2731838	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4573018	0.95[CEU][hapmap];0.86[JPT][hapmap];0.87[EUR][1000 genomes]
rs6556871	0.90[CHB][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.83[MKK][hapmap];0.85[YRI][hapmap];0.85[ASN][1000 genomes]
rs6556872	0.85[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
rs2731818	TTC37	cis	Whole Blood	GTEx

Chromatin state (count:103 , 50 per page) page: 1 2 3

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	chr5:94783400-94798600	Weak transcription	Gastric	stomach
6	chr5:94783400-94798600	Weak transcription	Left Ventricle	heart
7	chr5:94783600-94797200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr5:94783600-94798400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr5:94785000-94798600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:94785000-94798600	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr5:94785200-94796200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr5:94788400-94811200	Weak transcription	Small Intestine	intestine
13	chr5:94788600-94798600	Weak transcription	Lung	lung
14	chr5:94788800-94822000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr5:94789000-94798600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr5:94789600-94798400	Weak transcription	HSMMtube	muscle
17	chr5:94790000-94798600	Weak transcription	Aorta	Aorta
18	chr5:94790400-94798400	Weak transcription	Fetal Muscle Leg	muscle
19	chr5:94790600-94810800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr5:94791000-94798600	Weak transcription	NH-A	brain
21	chr5:94791200-94798600	Weak transcription	Brain Angular Gyrus	brain
22	chr5:94791400-94798400	Weak transcription	Placenta	Placenta
23	chr5:94791800-94811200	Weak transcription	Hela-S3	cervix
24	chr5:94792600-94798800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr5:94792600-94817800	Weak transcription	Brain Substantia Nigra	brain
26	chr5:94792600-94821800	Weak transcription	Right Ventricle	heart
27	chr5:94793400-94797400	Weak transcription	Brain Germinal Matrix	brain
28	chr5:94793400-94797600	Weak transcription	HSMM	muscle
29	chr5:94793400-94798400	Weak transcription	HUVEC	blood vessel
30	chr5:94793400-94801200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr5:94793600-94798600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr5:94794000-94797000	Weak transcription	Liver	Liver
33	chr5:94794000-94797400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr5:94794200-94798400	Weak transcription	Fetal Thymus	thymus
35	chr5:94794200-94798600	Weak transcription	Fetal Stomach	stomach
36	chr5:94794400-94798400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr5:94794400-94798400	Weak transcription	Fetal Intestine Large	intestine
38	chr5:94794400-94798800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr5:94794400-94810800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr5:94794600-94796200	Weak transcription	NHDF-Ad	bronchial
41	chr5:94794600-94797000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr5:94794600-94797200	Weak transcription	Ovary	ovary
43	chr5:94794600-94798400	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr5:94794600-94798400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr5:94794600-94798400	Weak transcription	Colon Smooth Muscle	Colon
46	chr5:94794600-94798400	Weak transcription	GM12878-XiMat	blood
47	chr5:94794600-94798600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr5:94794600-94798600	Weak transcription	Brain Hippocampus Middle	brain
49	chr5:94794600-94798600	Weak transcription	Duodenum Mucosa	Duodenum
50	chr5:94794600-94798600	Weak transcription	Esophagus	oesophagus

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