Variant report

Variant	rs2314936
Chromosome Location	chr5:74050209-74050210
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 100 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs1043968	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10515189	0.81[ASN][1000 genomes]
rs10515191	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1104272	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11739122	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11741464	0.82[ASN][1000 genomes]
rs11741789	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11741825	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11742460	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11742621	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11742773	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11743655	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11746611	0.82[ASN][1000 genomes]
rs11746702	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11746757	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11747965	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11749137	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11948188	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11955898	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1350097	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1447453	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs15694	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16872297	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16872299	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16872333	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16872346	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16872347	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16872364	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17852781	0.84[ASN][1000 genomes]
rs1812122	0.82[ASN][1000 genomes]
rs1993370	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2044410	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2061162	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2084115	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2084116	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2084118	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2100033	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2166361	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2314937	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34496480	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3733794	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3932895	0.82[ASN][1000 genomes]
rs3968877	0.82[ASN][1000 genomes]
rs4425487	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4594835	0.81[ASN][1000 genomes]
rs5020673	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55870102	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56068548	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56202905	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56276104	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56365996	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58367004	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59110717	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60663580	0.89[EUR][1000 genomes]
rs61093699	0.84[ASN][1000 genomes]
rs62366375	0.82[ASN][1000 genomes]
rs62366376	0.82[ASN][1000 genomes]
rs62366406	0.84[ASN][1000 genomes]
rs62366408	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62366414	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62366417	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62366423	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62366424	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62366426	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62366455	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62366458	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62367762	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62367766	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6453075	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6453077	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6453084	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6453086	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6453087	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6859014	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6861730	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6863738	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6866082	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6873067	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6874094	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6874609	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6877116	0.88[EUR][1000 genomes]
rs6877442	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6879781	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6882499	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6883061	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6884843	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6885093	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6885675	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6890815	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6897698	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6897904	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72764666	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73120619	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7708203	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7717223	0.81[ASN][1000 genomes]
rs7724292	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7728889	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs820826	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9686657	0.90[EUR][1000 genomes];0.83[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	nsv598653	chr5:73992881-74095542	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs2314936	NSA2	cis	Nerve Tibial	GTEx
rs2314936	NSA2	cis	Artery Tibial	GTEx
rs2314936	NSA2	cis	Thyroid	GTEx
rs2314936	NSA2	cis	Esophagus Muscularis	GTEx
rs2314936	NSA2	cis	Artery Aorta	GTEx
rs2314936	TINP1	Cis_1M	lymphoblastoid	RTeQTL
rs2314936	NSA2	cis	lung	GTEx
rs2314936	NSA2	cis	Skin Sun Exposed Lower leg	GTEx
rs2314936	NSA2	cis	Adipose Subcutaneous	GTEx
rs2314936	NSA2	cis	Heart Left Ventricle	GTEx
rs2314936	NSA2	cis	Esophagus Mucosa	GTEx
rs2314936	NSA2	cis	Muscle Skeletal	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:73982000-74061800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:73999800-74060800	Weak transcription	Pancreas	Pancrea
3	chr5:73999800-74062200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:74002600-74051600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:74002600-74061800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:74008400-74060200	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr5:74008400-74060200	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr5:74010400-74059600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr5:74012000-74051600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:74012200-74050400	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr5:74014400-74051600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:74016400-74052400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr5:74018000-74060800	Weak transcription	Gastric	stomach
14	chr5:74018600-74062000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr5:74019200-74058600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:74021600-74060800	Weak transcription	Spleen	Spleen
17	chr5:74022000-74060800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr5:74022800-74052000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:74025000-74062000	Weak transcription	Aorta	Aorta
20	chr5:74027400-74052000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr5:74029600-74052200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:74031800-74052600	Weak transcription	Small Intestine	intestine
23	chr5:74032000-74054200	Weak transcription	Lung	lung
24	chr5:74033800-74053000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr5:74038000-74052000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr5:74040000-74054200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr5:74042800-74051600	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr5:74043200-74052400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr5:74043200-74054200	Weak transcription	Colonic Mucosa	Colon
30	chr5:74043800-74051600	Weak transcription	Psoas Muscle	Psoas
31	chr5:74043800-74052200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr5:74044000-74052200	Weak transcription	HSMMtube	muscle
33	chr5:74044400-74061000	Weak transcription	Fetal Heart	heart
34	chr5:74044400-74061000	Weak transcription	Right Ventricle	heart
35	chr5:74045000-74059600	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr5:74045200-74052600	Weak transcription	Fetal Stomach	stomach
37	chr5:74045200-74061800	Weak transcription	Esophagus	oesophagus
38	chr5:74045400-74050600	Strong transcription	Primary hematopoietic stem cells	blood
39	chr5:74045800-74058800	Strong transcription	Primary T cells from cord blood	blood
40	chr5:74046000-74051000	Weak transcription	HMEC	breast
41	chr5:74046000-74052000	Weak transcription	HUVEC	blood vessel
42	chr5:74046600-74052000	Weak transcription	Thymus	Thymus
43	chr5:74046800-74051600	Weak transcription	Osteobl	bone
44	chr5:74046800-74052000	Weak transcription	Hela-S3	cervix
45	chr5:74046800-74052200	Weak transcription	Brain Substantia Nigra	brain
46	chr5:74046800-74052200	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr5:74046800-74052400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr5:74047000-74051400	Weak transcription	Fetal Kidney	kidney
49	chr5:74047000-74051600	Weak transcription	Brain Anterior Caudate	brain
50	chr5:74047000-74052000	Weak transcription	Fetal Brain Male	brain

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