Variant report

Variant	rs8030411
Chromosome Location	chr15:76699855-76699856
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 104 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs11072580	0.88[JPT][hapmap]
rs11072599	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11072603	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs1117367	0.94[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap]
rs1125932	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs12148786	0.94[CHB][hapmap];0.84[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap]
rs12148805	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs12437627	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12438077	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12439484	0.81[CEU][hapmap];0.83[JPT][hapmap]
rs12440815	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12441247	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12441433	0.94[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap]
rs12441550	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12442266	0.82[JPT][hapmap]
rs12443137	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs12591100	0.81[GIH][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap]
rs12592171	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12592386	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12592420	0.98[ASN][1000 genomes]
rs12592501	0.91[ASW][hapmap];1.00[LWK][hapmap]
rs12593751	0.95[ASN][1000 genomes]
rs12594577	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs12595211	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs12898415	0.88[JPT][hapmap];1.00[YRI][hapmap]
rs12899871	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12902174	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12902414	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12907668	0.82[JPT][hapmap];1.00[YRI][hapmap]
rs12907805	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12908334	0.88[JPT][hapmap]
rs12913096	1.00[ASW][hapmap];0.83[JPT][hapmap]
rs12914005	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12915248	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.92[MKK][hapmap];0.98[TSI][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12916573	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12917430	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs157783	0.86[MEX][hapmap];0.82[TSI][hapmap]
rs1587381	1.00[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1588961	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1603856	1.00[YRI][hapmap]
rs17361504	0.81[CEU][hapmap];0.83[JPT][hapmap]
rs17362383	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17363364	1.00[YRI][hapmap]
rs17363713	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17364076	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17364330	1.00[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.91[MEX][hapmap];0.97[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17364714	1.00[YRI][hapmap]
rs17458234	1.00[YRI][hapmap]
rs17460201	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17461634	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1874944	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1875884	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1875885	0.92[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1946650	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1965492	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs206205	0.81[AMR][1000 genomes]
rs2117369	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2120107	0.94[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap]
rs2120108	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap]
rs2164101	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2176623	1.00[ASW][hapmap];0.83[JPT][hapmap]
rs2404740	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs2469542	0.88[JPT][hapmap]
rs284892	0.84[AMR][1000 genomes]
rs284895	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs284909	0.81[AMR][1000 genomes]
rs3759853	0.80[CEU][hapmap];0.83[JPT][hapmap]
rs3866543	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.82[GIH][hapmap];0.88[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.82[MKK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4079681	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4633676	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4886496	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4886799	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4886801	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4886813	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.80[EUR][1000 genomes]
rs4886817	0.90[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.92[LWK][hapmap];0.97[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap]
rs4886818	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs56089215	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56216512	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56351018	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs58511211	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs58684938	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs66754747	0.81[EUR][1000 genomes]
rs66986092	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67204011	0.89[AFR][1000 genomes]
rs67232575	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67263359	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67418609	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs67888330	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67920045	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7162455	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7163946	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7164060	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7164813	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7165025	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7179142	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7403276	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs744336	0.95[MEX][hapmap];0.84[TSI][hapmap];0.81[AMR][1000 genomes]
rs8025134	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8039545	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8043057	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs959991	0.91[ASW][hapmap];0.86[LWK][hapmap]
rs9646213	0.80[AMR][1000 genomes];0.85[EUR][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	nsv510667	chr15:76653359-76708310	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv542438	chr15:76697056-76892157	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs8030411	SCAPER	cis	Artery Tibial	GTEx
rs8030411	SCAPER	Cis_1M	lymphoblastoid	RTeQTL
rs8030411	SCAPER	cis	cerebellum	SCAN
rs8030411	NRG4	cis	parietal	SCAN
rs8030411	SCAPER	cis	Thyroid	GTEx
rs8030411	SCAPER	cis	lung	GTEx
rs8030411	ZNF291	cis	multi-tissue	Pritchard
rs8030411	STOML1	cis	cerebellum	SCAN
rs8030411	SCAPER	cis	parietal	SCAN
rs8030411	SCAPER	cis	Nerve Tibial	GTEx

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76639800-76727400	Weak transcription	Right Ventricle	heart
2	chr15:76661000-76708600	Weak transcription	Brain Anterior Caudate	brain
3	chr15:76661200-76710800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr15:76666200-76706800	Weak transcription	Primary B cells from peripheral blood	blood
5	chr15:76673200-76727400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr15:76674600-76718400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr15:76682600-76713800	Weak transcription	Fetal Intestine Small	intestine
8	chr15:76684800-76718200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr15:76691000-76703600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr15:76693600-76720400	Weak transcription	Colon Smooth Muscle	Colon
11	chr15:76695600-76711000	Weak transcription	Lung	lung
12	chr15:76695800-76705800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr15:76695800-76706000	Weak transcription	Fetal Intestine Large	intestine
14	chr15:76695800-76709800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr15:76695800-76726000	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr15:76696600-76720600	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr15:76697000-76700400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr15:76697000-76700400	Weak transcription	Fetal Muscle Leg	muscle
19	chr15:76697000-76703800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr15:76697000-76704800	Weak transcription	Fetal Thymus	thymus
21	chr15:76697000-76705000	Weak transcription	Primary B cells from cord blood	blood
22	chr15:76697000-76710400	Weak transcription	Left Ventricle	heart
23	chr15:76697000-76711000	Weak transcription	Esophagus	oesophagus
24	chr15:76697000-76718400	Weak transcription	Ovary	ovary
25	chr15:76697000-76719200	Weak transcription	Primary T cells from cord blood	blood
26	chr15:76697000-76720800	Weak transcription	Aorta	Aorta
27	chr15:76697000-76722200	Weak transcription	Spleen	Spleen
28	chr15:76697000-76723400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr15:76697000-76724000	Weak transcription	Brain Substantia Nigra	brain
30	chr15:76697000-76724400	Weak transcription	Pancreas	Pancrea
31	chr15:76697000-76726000	Weak transcription	Duodenum Mucosa	Duodenum
32	chr15:76697000-76726400	Weak transcription	Stomach Smooth Muscle	stomach
33	chr15:76697200-76706000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr15:76697200-76706800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr15:76697200-76720400	Weak transcription	Liver	Liver
36	chr15:76698400-76703200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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