Variant report

Variant	rs7521015
Chromosome Location	chr1:224443776-224443777
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 101 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs10158063	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10733024	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10737442	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10737443	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10753462	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10753464	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10799556	1.00[MEX][hapmap]
rs10799562	0.81[ASW][hapmap];0.85[CEU][hapmap];0.89[CHB][hapmap];0.88[CHD][hapmap];0.92[GIH][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10799563	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10799566	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10799567	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10799568	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10916577	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10916585	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11802486	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11811730	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16846031	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16846094	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16846214	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16846244	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1806742	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2001712	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2001713	1.00[EUR][1000 genomes]
rs2404783	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2404856	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2404857	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2404858	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2404859	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2404861	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2405062	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2405065	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2405067	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2405070	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2896990	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2896992	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2897054	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3754090	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3767721	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3767722	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.87[TSI][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3767723	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3767724	0.91[ASN][1000 genomes]
rs3767725	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4146965	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4146966	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4233234	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4233235	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[TSI][hapmap]
rs4256779	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4420060	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4457542	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4628473	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4653575	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4653579	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.92[GIH][hapmap];0.82[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4653580	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4653581	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4653583	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4653584	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4654011	0.90[ASN][1000 genomes]
rs4654013	0.85[JPT][hapmap]
rs4654017	0.80[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];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4654019	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4654022	0.89[CHB][hapmap];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4654023	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4654032	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4654033	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4654034	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55675086	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55980628	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57324770	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58855990	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59106681	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6426088	0.89[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap];0.93[ASN][1000 genomes]
rs6426094	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6426100	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6426110	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6426114	0.84[ASN][1000 genomes]
rs6426115	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6426117	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6681790	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6682667	0.94[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];0.84[MKK][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6685600	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6691689	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6694745	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6696795	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6699017	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73118046	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73128468	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73130436	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73130448	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73130455	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73130462	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73130464	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7522392	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7529143	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7530205	0.88[ASW][hapmap];1.00[CEU][hapmap];0.88[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7534101	1.00[CEU][hapmap];0.89[CHB][hapmap];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7534447	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9287027	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873223	chr1:224367232-224467117	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
2	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv469889	chr1:224440354-224634374	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv482318	chr1:224440354-224634374	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7521015	NVL	cis	multi-tissue	Pritchard

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224401800-224475400	Weak transcription	Esophagus	oesophagus
2	chr1:224411600-224454400	Weak transcription	Psoas Muscle	Psoas
3	chr1:224412400-224473600	Weak transcription	HepG2	liver
4	chr1:224416000-224465600	Weak transcription	Small Intestine	intestine
5	chr1:224424600-224451600	Weak transcription	Aorta	Aorta
6	chr1:224424600-224479600	Weak transcription	Pancreas	Pancrea
7	chr1:224424800-224454200	Weak transcription	HSMM	muscle
8	chr1:224425600-224470000	Weak transcription	NHDF-Ad	bronchial
9	chr1:224427800-224444000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:224431200-224490400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:224433400-224516200	Weak transcription	Fetal Heart	heart
12	chr1:224434400-224449400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr1:224434400-224474800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr1:224434400-224474800	Weak transcription	Fetal Brain Male	brain
15	chr1:224436800-224447600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:224436800-224449000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr1:224436800-224451000	Weak transcription	HMEC	breast
18	chr1:224436800-224452000	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr1:224436800-224454400	Weak transcription	NHEK	skin
20	chr1:224436800-224473600	Weak transcription	Gastric	stomach
21	chr1:224437000-224449000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr1:224437000-224449000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr1:224437000-224449000	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr1:224437000-224449000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr1:224437000-224450400	Weak transcription	Primary B cells from peripheral blood	blood
26	chr1:224437000-224453400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:224437000-224454000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr1:224437000-224454200	Weak transcription	Brain Cingulate Gyrus	brain
29	chr1:224437000-224454200	Weak transcription	Colon Smooth Muscle	Colon
30	chr1:224437000-224454200	Weak transcription	NHLF	lung
31	chr1:224437000-224475200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr1:224437000-224476600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:224437000-224479600	Weak transcription	Right Ventricle	heart
34	chr1:224437200-224444600	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr1:224437200-224450200	Weak transcription	A549	lung
36	chr1:224437200-224450400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:224437200-224453400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr1:224437200-224453800	Weak transcription	GM12878-XiMat	blood
39	chr1:224437200-224454000	Weak transcription	Primary hematopoietic stem cells	blood
40	chr1:224437600-224450600	Weak transcription	Primary B cells from cord blood	blood
41	chr1:224437600-224453400	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr1:224437600-224454000	Weak transcription	Brain Anterior Caudate	brain
43	chr1:224437600-224454000	Weak transcription	Ovary	ovary
44	chr1:224437600-224474800	Weak transcription	Colonic Mucosa	Colon
45	chr1:224437800-224447600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr1:224437800-224447800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr1:224437800-224450200	Weak transcription	Fetal Brain Female	brain
48	chr1:224437800-224451800	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr1:224437800-224453400	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr1:224437800-224453400	Weak transcription	Fetal Lung	lung

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