Variant report

Variant	rs2570950
Chromosome Location	chr8:103883865-103883866
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10104704	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10104995	0.81[AFR][1000 genomes]
rs1055376	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.92[TSI][hapmap];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10955294	0.83[CHB][hapmap]
rs11776547	0.82[AFR][1000 genomes]
rs11993347	0.82[AFR][1000 genomes]
rs1434235	0.93[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.80[MEX][hapmap];1.00[YRI][hapmap];0.85[ASN][1000 genomes]
rs1714399	0.96[EUR][1000 genomes]
rs1806299	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2164061	0.93[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.80[MEX][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2256440	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[ASN][1000 genomes]
rs2436844	0.93[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.92[YRI][hapmap];0.85[ASN][1000 genomes]
rs2436846	0.85[ASN][1000 genomes]
rs2436847	0.87[ASN][1000 genomes]
rs2436848	0.87[ASN][1000 genomes]
rs2513898	0.84[ASN][1000 genomes]
rs2513913	0.87[ASN][1000 genomes]
rs2513919	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[ASN][1000 genomes]
rs2513921	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.85[ASN][1000 genomes]
rs2513922	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2513935	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2570942	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[ASN][1000 genomes]
rs2570946	0.97[EUR][1000 genomes]
rs2570947	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2570948	0.97[EUR][1000 genomes]
rs2679741	0.96[CEU][hapmap];0.97[EUR][1000 genomes]
rs2679742	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2679749	0.87[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.80[MEX][hapmap];1.00[YRI][hapmap];0.87[ASN][1000 genomes]
rs2679751	0.87[ASN][1000 genomes]
rs2679752	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2679754	0.93[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.80[MEX][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2679755	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2679756	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2679757	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2679759	0.96[CEU][hapmap];0.93[GIH][hapmap];0.92[MEX][hapmap];0.94[TSI][hapmap];0.96[EUR][1000 genomes]
rs28594922	0.92[ASN][1000 genomes]
rs2916561	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2916564	0.84[ASN][1000 genomes]
rs3018956	0.85[ASN][1000 genomes]
rs34655485	0.85[ASN][1000 genomes]
rs491770	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs492770	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs548488	0.89[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs551241	0.96[EUR][1000 genomes]
rs565720	0.84[CHD][hapmap];0.83[GIH][hapmap]
rs567395	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs581610	0.84[MKK][hapmap];0.91[YRI][hapmap]
rs601088	0.84[MKK][hapmap];0.91[YRI][hapmap]
rs601588	0.96[CEU][hapmap];0.96[EUR][1000 genomes]
rs647313	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs665298	0.89[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs667927	1.00[CEU][hapmap];0.93[GIH][hapmap];0.92[MEX][hapmap];0.94[TSI][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs678839	0.89[CHB][hapmap];0.89[GIH][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs7833202	0.96[CEU][hapmap]
rs892484	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs972142	0.87[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];1.00[YRI][hapmap];0.85[ASN][1000 genomes]
rs974759	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1021898	chr8:103767324-103922482	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv465751	chr8:103817106-103894326	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	nsv611822	chr8:103817106-103894326	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv891245	chr8:103838004-103907253	Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2570950	AZIN1	cis	parietal	SCAN
rs2570950	AZIN1	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103877000-103906800	Weak transcription	Gastric	stomach
2	chr8:103877200-103893200	Weak transcription	Pancreas	Pancrea
3	chr8:103877600-103884200	Weak transcription	Aorta	Aorta
4	chr8:103877800-103886400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr8:103877800-103902000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:103877800-103906400	Weak transcription	HSMMtube	muscle
7	chr8:103878000-103887200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr8:103878000-103906400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr8:103878000-103908800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr8:103878200-103884200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:103878200-103892800	Weak transcription	Fetal Muscle Leg	muscle
12	chr8:103878200-103897400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr8:103878200-103906600	Weak transcription	Ovary	ovary
14	chr8:103878400-103884000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr8:103878400-103897200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:103878600-103892800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr8:103878600-103897600	Weak transcription	Fetal Brain Female	brain
18	chr8:103878800-103884400	Weak transcription	Small Intestine	intestine
19	chr8:103878800-103893400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr8:103878800-103895600	Weak transcription	Fetal Muscle Trunk	muscle
21	chr8:103878800-103899800	Weak transcription	Esophagus	oesophagus
22	chr8:103879000-103893000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr8:103879200-103922000	Weak transcription	Fetal Intestine Small	intestine
24	chr8:103881000-103899000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr8:103881200-103884000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr8:103881200-103884200	Weak transcription	Fetal Lung	lung
27	chr8:103881200-103884400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr8:103881400-103884000	Enhancers	Placenta	Placenta
29	chr8:103882800-103906600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:103883000-103884200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr8:103883200-103893200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr8:103883600-103884400	Enhancers	NHDF-Ad	bronchial
33	chr8:103883600-103884600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr8:103883800-103884400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr8:103883800-103884400	Enhancers	Hela-S3	cervix
36	chr8:103883800-103884600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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