Variant report

Variant	rs2515216
Chromosome Location	chr8:99814885-99814886
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10447977	0.90[TSI][hapmap]
rs10755896	0.90[TSI][hapmap];0.88[YRI][hapmap]
rs10755897	0.92[TSI][hapmap]
rs10955190	0.93[YRI][hapmap];0.82[EUR][1000 genomes]
rs11774463	0.90[TSI][hapmap]
rs11778767	1.00[GIH][hapmap];0.92[TSI][hapmap]
rs11780500	1.00[GIH][hapmap];0.95[TSI][hapmap]
rs12114834	1.00[GIH][hapmap];0.92[TSI][hapmap]
rs12541317	1.00[YRI][hapmap]
rs12547297	0.93[TSI][hapmap]
rs12549803	0.93[TSI][hapmap]
rs12550783	0.93[TSI][hapmap];0.88[YRI][hapmap]
rs12679734	0.93[TSI][hapmap];0.85[EUR][1000 genomes]
rs12680195	0.90[TSI][hapmap]
rs13269932	0.96[GIH][hapmap];0.95[TSI][hapmap];0.82[YRI][hapmap]
rs13275915	0.96[GIH][hapmap];0.95[TSI][hapmap]
rs1476181	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs1961744	0.82[EUR][1000 genomes]
rs2028975	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2442010	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2442011	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2442012	0.89[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs2442013	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2442014	0.89[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs2442015	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515214	1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2515215	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2515219	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2515221	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2515224	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2515225	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2922066	0.87[TSI][hapmap]
rs2922073	0.84[EUR][1000 genomes]
rs2922074	0.82[EUR][1000 genomes]
rs2922075	0.94[EUR][1000 genomes]
rs2922076	0.82[EUR][1000 genomes]
rs2922078	0.84[ASW][hapmap];0.92[CEU][hapmap];0.96[GIH][hapmap];0.82[MKK][hapmap];0.97[TSI][hapmap];0.88[YRI][hapmap];0.94[EUR][1000 genomes]
rs2922081	0.94[EUR][1000 genomes]
rs2922082	0.95[CEU][hapmap];0.96[GIH][hapmap];0.97[TSI][hapmap];0.82[YRI][hapmap];0.85[EUR][1000 genomes]
rs3019293	0.95[EUR][1000 genomes]
rs34366206	0.87[TSI][hapmap]
rs35798019	1.00[GIH][hapmap];0.97[TSI][hapmap];0.81[EUR][1000 genomes]
rs4131873	0.89[GIH][hapmap];0.97[TSI][hapmap];0.84[EUR][1000 genomes]
rs4255105	0.93[TSI][hapmap];0.86[EUR][1000 genomes]
rs4279561	0.86[GIH][hapmap];0.95[TSI][hapmap]
rs4292660	0.92[GIH][hapmap];0.90[TSI][hapmap];0.81[EUR][1000 genomes]
rs4304299	1.00[CEU][hapmap];0.89[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs4413739	0.93[YRI][hapmap];0.80[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs4509292	0.88[YRI][hapmap]
rs4549741	0.89[GIH][hapmap];0.95[TSI][hapmap]
rs4562286	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.91[LWK][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs4734410	0.96[GIH][hapmap];0.97[TSI][hapmap];0.82[YRI][hapmap]
rs4734417	0.82[EUR][1000 genomes]
rs4735568	0.93[TSI][hapmap];0.88[YRI][hapmap]
rs4735569	1.00[YRI][hapmap]
rs4735570	0.81[ASW][hapmap];0.87[TSI][hapmap];0.87[YRI][hapmap]
rs4735574	0.96[GIH][hapmap];0.95[TSI][hapmap]
rs62532577	0.81[EUR][1000 genomes]
rs62532587	0.87[EUR][1000 genomes]
rs6988087	0.88[GIH][hapmap];0.93[TSI][hapmap]
rs6992925	0.96[GIH][hapmap];0.95[TSI][hapmap];0.82[YRI][hapmap]
rs7818828	0.85[TSI][hapmap]
rs7827435	0.81[EUR][1000 genomes]
rs7845271	0.92[GIH][hapmap];0.87[TSI][hapmap];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891218	chr8:99507313-99906221	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1027025	chr8:99672977-100115315	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv539690	chr8:99672977-100115315	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv891220	chr8:99681858-99867419	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
5	nsv1025685	chr8:99706280-99826236	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv539691	chr8:99706280-99826236	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv1031089	chr8:99715785-100399935	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2515216	STK3	cis	parietal	SCAN
rs2515216	NCALD	cis	cerebellum	SCAN
rs2515216	RGS22	cis	cerebellum	SCAN
rs2515216	OSR2	cis	cerebellum	SCAN

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99809600-99820000	Weak transcription	Ovary	ovary
2	chr8:99809600-99820600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr8:99809800-99819800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:99809800-99819800	Weak transcription	A549	lung
5	chr8:99809800-99820400	Weak transcription	Osteobl	bone
6	chr8:99809800-99823000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr8:99809800-99823000	Weak transcription	HMEC	breast
8	chr8:99811800-99820200	Weak transcription	Fetal Lung	lung
9	chr8:99812600-99819600	Weak transcription	Colon Smooth Muscle	Colon
10	chr8:99813000-99818600	Weak transcription	Adipose Nuclei	Adipose
11	chr8:99813200-99819200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr8:99813200-99821000	Weak transcription	Left Ventricle	heart
13	chr8:99813400-99815600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr8:99813400-99820000	Weak transcription	Fetal Intestine Large	intestine
15	chr8:99813400-99828200	Weak transcription	Fetal Muscle Leg	muscle
16	chr8:99813600-99819800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr8:99813800-99836400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr8:99813800-99836400	Weak transcription	Fetal Stomach	stomach
19	chr8:99814000-99818800	Weak transcription	Pancreas	Pancrea
20	chr8:99814000-99819800	Weak transcription	Liver	Liver
21	chr8:99814000-99820000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr8:99814200-99816400	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr8:99814200-99817400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr8:99814200-99820000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr8:99814200-99826600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr8:99814400-99819800	Weak transcription	Fetal Intestine Small	intestine
27	chr8:99814400-99820800	Weak transcription	NHEK	skin
28	chr8:99814400-99821200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr8:99814400-99823000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr8:99814600-99821000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr8:99814800-99820000	Weak transcription	Small Intestine	intestine

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