Variant report

Variant	rs67417438
Chromosome Location	chr14:70845490-70845491
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs11623231	1.00[AFR][1000 genomes]
rs11623788	1.00[AFR][1000 genomes]
rs11626919	1.00[AFR][1000 genomes]
rs11628786	1.00[AFR][1000 genomes]
rs12879256	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12879701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12880065	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs12885170	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12888630	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12889575	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12889618	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12890852	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12891402	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12897297	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12898006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17474359	1.00[AFR][1000 genomes]
rs17475333	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17566073	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17566625	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17566723	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17566814	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17566989	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34473038	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34506335	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs34590849	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34620351	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34658788	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34668417	1.00[AFR][1000 genomes]
rs34981619	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35034872	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35224988	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35543989	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35547503	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35697534	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35997384	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55692830	1.00[AFR][1000 genomes]
rs55812665	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56113470	1.00[AFR][1000 genomes]
rs66495513	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67434384	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72731878	1.00[AFR][1000 genomes]
rs72731882	1.00[AFR][1000 genomes]
rs72731883	1.00[AFR][1000 genomes]
rs72731885	1.00[AFR][1000 genomes]
rs72731887	1.00[AFR][1000 genomes]
rs72731896	1.00[AFR][1000 genomes]
rs72731898	1.00[AFR][1000 genomes]
rs72733705	1.00[AFR][1000 genomes]
rs72733709	1.00[AFR][1000 genomes]
rs72733718	1.00[AFR][1000 genomes]
rs72733725	1.00[AFR][1000 genomes]
rs72733739	1.00[AFR][1000 genomes]
rs72733767	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72733778	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72733782	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv902075	chr14:70612618-70919016	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs67417438	RP11-718G2.3	cis	Muscle Skeletal	GTEx
rs67417438	COX16	cis	Muscle Skeletal	GTEx
rs67417438	COX16	cis	Heart Left Ventricle	GTEx

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70826800-70857600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:70827000-70855200	Weak transcription	Esophagus	oesophagus
3	chr14:70827000-70857600	Weak transcription	Small Intestine	intestine
4	chr14:70827000-70864200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr14:70827200-70864200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr14:70827200-70864400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr14:70827200-70882600	Weak transcription	A549	lung
8	chr14:70827200-70882600	Weak transcription	NH-A	brain
9	chr14:70827400-70845800	Weak transcription	HSMM	muscle
10	chr14:70827400-70846200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr14:70832000-70872400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr14:70832200-70864200	Weak transcription	GM12878-XiMat	blood
13	chr14:70832600-70858000	Weak transcription	Stomach Mucosa	stomach
14	chr14:70832800-70856600	Weak transcription	HUVEC	blood vessel
15	chr14:70833800-70882400	Weak transcription	NHDF-Ad	bronchial
16	chr14:70834000-70858400	Weak transcription	HepG2	liver
17	chr14:70834200-70864600	Weak transcription	Fetal Thymus	thymus
18	chr14:70834400-70847800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr14:70835400-70856000	Strong transcription	Primary T cells from cord blood	blood
20	chr14:70835600-70853800	Strong transcription	Liver	Liver
21	chr14:70836000-70864200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr14:70836600-70864600	Weak transcription	Brain Germinal Matrix	brain
23	chr14:70836800-70850400	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr14:70837000-70850000	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr14:70837000-70850600	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr14:70838600-70870000	Weak transcription	NHEK	skin
27	chr14:70838600-70882400	Weak transcription	Hela-S3	cervix
28	chr14:70839000-70850400	Strong transcription	Primary B cells from cord blood	blood
29	chr14:70839600-70858600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr14:70840000-70847800	Weak transcription	Ovary	ovary
31	chr14:70840200-70847800	Weak transcription	Brain Substantia Nigra	brain
32	chr14:70840200-70850000	Weak transcription	Osteobl	bone
33	chr14:70840200-70852200	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr14:70840200-70864200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr14:70840200-70864400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr14:70840200-70864400	Weak transcription	Spleen	Spleen
37	chr14:70840200-70882400	Weak transcription	Colon Smooth Muscle	Colon
38	chr14:70840200-70882600	Weak transcription	Colonic Mucosa	Colon
39	chr14:70840400-70849400	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr14:70840400-70854800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr14:70840400-70864200	Weak transcription	Lung	lung
42	chr14:70840400-70864200	Weak transcription	Pancreas	Pancrea
43	chr14:70840600-70846800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr14:70840600-70864200	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr14:70840800-70847600	Weak transcription	Brain Anterior Caudate	brain
46	chr14:70840800-70882800	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr14:70841000-70847600	Weak transcription	Fetal Brain Female	brain
48	chr14:70841000-70882600	Weak transcription	Rectal Smooth Muscle	rectum
49	chr14:70841200-70847600	Weak transcription	Brain Hippocampus Middle	brain
50	chr14:70841200-70847800	Weak transcription	Stomach Smooth Muscle	stomach

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