Variant report

Variant	rs2619312
Chromosome Location	chr13:95723039-95723040
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:95719815..95721842-chr13:95722813..95724481,2	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1189433	0.85[JPT][hapmap]
rs1189434	0.96[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs1189435	0.90[CHD][hapmap];0.85[JPT][hapmap]
rs1189436	0.90[CHD][hapmap];0.85[JPT][hapmap]
rs1189437	0.90[CHD][hapmap];0.85[JPT][hapmap]
rs1189438	0.86[CHB][hapmap];0.96[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs1189439	0.90[CHD][hapmap];0.85[JPT][hapmap]
rs1189441	0.84[ASN][1000 genomes]
rs1189442	0.87[CEU][hapmap];0.80[CHD][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];0.91[TSI][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1189443	0.93[CEU][hapmap];0.80[CHD][hapmap];1.00[GIH][hapmap];0.84[MEX][hapmap];0.94[TSI][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1189444	0.93[CEU][hapmap];1.00[GIH][hapmap];0.84[MEX][hapmap];0.94[TSI][hapmap];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1189445	0.81[JPT][hapmap]
rs1189446	0.81[JPT][hapmap]
rs1189449	0.81[JPT][hapmap]
rs1189451	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1189452	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.94[MEX][hapmap];0.92[MKK][hapmap];0.97[TSI][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1189453	0.95[ASN][1000 genomes]
rs1189454	0.86[ASN][1000 genomes]
rs1189456	0.99[ASN][1000 genomes]
rs1189461	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];0.98[ASN][1000 genomes]
rs1189462	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1189463	0.92[ASN][1000 genomes]
rs1189464	0.96[ASN][1000 genomes]
rs1189466	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1189467	0.93[ASN][1000 genomes]
rs1612388	1.00[CEU][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1629441	0.90[ASN][1000 genomes]
rs1630901	1.00[CEU][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1678339	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1678341	0.93[CHD][hapmap];0.85[JPT][hapmap]
rs1678351	0.92[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1678353	0.93[CHD][hapmap];0.95[JPT][hapmap]
rs1678362	0.86[CHB][hapmap];0.96[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs1678365	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1678387	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1678395	0.89[CHD][hapmap]
rs1678409	0.86[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs1729745	0.93[CHD][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs1729747	1.00[CEU][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1729752	0.85[JPT][hapmap]
rs1729755	0.89[ASN][1000 genomes]
rs1729773	0.95[JPT][hapmap]
rs1751031	1.00[CEU][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1751033	1.00[CEU][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1751034	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1751036	0.86[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs1751037	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1751040	0.83[ASN][1000 genomes]
rs1751042	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1751043	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1751046	0.89[ASN][1000 genomes]
rs1751052	0.86[CHB][hapmap];0.96[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs1751055	0.94[JPT][hapmap]
rs1751057	0.86[CHB][hapmap];0.96[CHD][hapmap];0.95[JPT][hapmap]
rs2619311	0.86[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2766475	0.90[CHD][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs2950957	0.93[CHD][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs4773840	0.93[CHD][hapmap];0.85[JPT][hapmap]
rs5016378	0.86[CEU][hapmap];0.89[MEX][hapmap];0.85[TSI][hapmap];0.80[EUR][1000 genomes]
rs7338853	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs931111	1.00[CEU][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs943289	0.92[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9524790	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][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	nsv832688	chr13:95633193-95780198	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv525194	chr13:95672950-95737192	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2619312	NSUN7	trans	parietal	SCAN

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95669400-95723200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr13:95669600-95744000	Weak transcription	Small Intestine	intestine
3	chr13:95672800-95729000	Weak transcription	Colonic Mucosa	Colon
4	chr13:95676000-95740000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr13:95683200-95751800	Weak transcription	Fetal Lung	lung
6	chr13:95683800-95725800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr13:95684400-95728200	Weak transcription	Adipose Nuclei	Adipose
8	chr13:95684600-95725400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr13:95685200-95734600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr13:95686800-95744600	Weak transcription	Esophagus	oesophagus
11	chr13:95692600-95725600	Weak transcription	Primary B cells from peripheral blood	blood
12	chr13:95692800-95735800	Weak transcription	NHEK	skin
13	chr13:95694800-95725600	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr13:95695600-95723800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr13:95696000-95726200	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr13:95702400-95735200	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr13:95709200-95728000	Weak transcription	HSMMtube	muscle
18	chr13:95710000-95723600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr13:95710200-95727400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr13:95710400-95741200	Weak transcription	Right Ventricle	heart
21	chr13:95711800-95724600	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr13:95712200-95723400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr13:95713000-95727000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr13:95713400-95723600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr13:95713400-95725000	Weak transcription	Placenta	Placenta
26	chr13:95716600-95725800	Weak transcription	NHDF-Ad	bronchial
27	chr13:95716800-95727000	Weak transcription	Fetal Thymus	thymus
28	chr13:95717200-95726200	Weak transcription	Brain Cingulate Gyrus	brain
29	chr13:95717600-95727600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr13:95717800-95724200	Strong transcription	A549	lung
31	chr13:95718000-95741800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr13:95718200-95728600	Strong transcription	GM12878-XiMat	blood
33	chr13:95718400-95724800	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr13:95718800-95728200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr13:95719400-95726400	Weak transcription	HSMM	muscle
36	chr13:95719400-95729000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr13:95719600-95739800	Weak transcription	Pancreas	Pancrea
38	chr13:95720000-95735400	Weak transcription	HUVEC	blood vessel
39	chr13:95720000-95736200	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr13:95720200-95729600	Weak transcription	Osteobl	bone
41	chr13:95720400-95723800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr13:95720600-95723600	Weak transcription	Fetal Kidney	kidney
43	chr13:95720600-95735000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr13:95720600-95736600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr13:95720800-95734200	Weak transcription	Thymus	Thymus
46	chr13:95721000-95724000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr13:95721000-95724200	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr13:95721200-95723600	Strong transcription	Ovary	ovary
49	chr13:95721200-95724200	Strong transcription	Duodenum Mucosa	Duodenum
50	chr13:95721200-95724200	Strong transcription	Stomach Smooth Muscle	stomach

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