Variant report

Variant	rs1751052
Chromosome Location	chr13:95733378-95733379
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:95733369..95735301-chr13:95738025..95740339,3	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1189433	0.87[CHB][hapmap];0.91[JPT][hapmap];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1189434	0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1189435	0.87[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap];0.88[TSI][hapmap];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1189436	0.87[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap];0.88[TSI][hapmap];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1189437	0.87[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap];0.88[TSI][hapmap];0.92[ASN][1000 genomes]
rs1189438	0.88[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1189439	0.88[ASW][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap];1.00[LWK][hapmap];0.96[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1189440	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1189451	0.86[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs1189452	0.86[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs1189453	0.80[ASN][1000 genomes]
rs1189456	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1189461	0.86[CHB][hapmap];0.96[CHD][hapmap];0.95[JPT][hapmap];0.83[TSI][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1189462	0.86[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.83[TSI][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1189464	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1189466	0.86[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.83[TSI][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1189467	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1612388	0.90[CHD][hapmap];0.86[JPT][hapmap]
rs1617888	0.87[AFR][1000 genomes]
rs1629441	0.82[EUR][1000 genomes]
rs1630901	0.90[CHD][hapmap];0.86[JPT][hapmap]
rs1678339	0.86[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.83[TSI][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1678341	0.90[CHD][hapmap];0.80[JPT][hapmap]
rs1678347	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1678351	0.93[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.83[TSI][hapmap];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1678353	0.90[CHD][hapmap];0.90[JPT][hapmap]
rs1678362	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1678365	0.86[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.83[TSI][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1678387	0.86[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.83[TSI][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1678395	0.86[CHD][hapmap]
rs1678409	0.90[CHD][hapmap];0.86[JPT][hapmap];0.83[TSI][hapmap];0.86[EUR][1000 genomes]
rs1729745	0.90[CHD][hapmap];0.86[JPT][hapmap];0.83[TSI][hapmap]
rs1729747	0.85[JPT][hapmap]
rs1729752	0.87[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1729753	0.96[AFR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1729755	0.98[AFR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1729773	0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs1751031	0.90[CHD][hapmap];0.86[JPT][hapmap]
rs1751033	0.90[CHD][hapmap];0.86[JPT][hapmap]
rs1751036	0.90[CHD][hapmap];0.86[JPT][hapmap];0.83[TSI][hapmap];0.86[EUR][1000 genomes]
rs1751037	0.86[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.83[TSI][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1751042	0.86[CHB][hapmap];0.95[JPT][hapmap];0.83[TSI][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1751043	0.86[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.83[TSI][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1751046	0.98[AFR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1751055	0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs1751056	0.81[ASN][1000 genomes]
rs1751057	0.86[CHB][hapmap];0.93[CHD][hapmap];0.90[JPT][hapmap];0.88[TSI][hapmap]
rs2619308	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2619311	0.86[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap]
rs2619312	0.86[CHB][hapmap];0.96[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs2766475	0.87[CHD][hapmap];0.86[JPT][hapmap];0.82[TSI][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2766479	0.98[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2950957	0.90[CHD][hapmap];0.86[JPT][hapmap];0.83[TSI][hapmap];0.82[EUR][1000 genomes]
rs4773840	0.89[CHD][hapmap];0.80[JPT][hapmap]
rs7338853	0.84[ASN][1000 genomes]
rs7986666	0.94[ASN][1000 genomes]
rs7987858	0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs7988310	0.96[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs931111	0.90[CHD][hapmap];0.86[JPT][hapmap]
rs943289	0.93[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.83[TSI][hapmap];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9524790	0.84[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
rs1751052	SNORA70D	trans	lymphoblastoid	seeQTL

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95669600-95744000	Weak transcription	Small Intestine	intestine
2	chr13:95676000-95740000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr13:95683200-95751800	Weak transcription	Fetal Lung	lung
4	chr13:95685200-95734600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr13:95686800-95744600	Weak transcription	Esophagus	oesophagus
6	chr13:95692800-95735800	Weak transcription	NHEK	skin
7	chr13:95702400-95735200	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr13:95710400-95741200	Weak transcription	Right Ventricle	heart
9	chr13:95718000-95741800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr13:95719600-95739800	Weak transcription	Pancreas	Pancrea
11	chr13:95720000-95735400	Weak transcription	HUVEC	blood vessel
12	chr13:95720000-95736200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr13:95720600-95735000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr13:95720600-95736600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr13:95720800-95734200	Weak transcription	Thymus	Thymus
16	chr13:95723000-95742200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr13:95723800-95760000	Weak transcription	Colon Smooth Muscle	Colon
18	chr13:95724000-95740000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr13:95724000-95751800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr13:95724000-95760600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr13:95724200-95734600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr13:95724200-95734800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr13:95724200-95740000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr13:95724200-95749600	Weak transcription	Fetal Intestine Large	intestine
25	chr13:95726400-95733800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr13:95726400-95739800	Weak transcription	NH-A	brain
27	chr13:95727000-95739800	Weak transcription	NHLF	lung
28	chr13:95727000-95752600	Weak transcription	HSMM	muscle
29	chr13:95727000-95791600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr13:95727000-95812000	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr13:95727200-95735000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr13:95727200-95740000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr13:95727400-95736000	Weak transcription	NHDF-Ad	bronchial
34	chr13:95727600-95733600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr13:95727600-95761000	Weak transcription	K562	blood
36	chr13:95727800-95733400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr13:95727800-95744200	Weak transcription	Spleen	Spleen
38	chr13:95727800-95767800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr13:95728400-95778800	Weak transcription	Ovary	ovary
40	chr13:95728600-95733400	Weak transcription	Lung	lung
41	chr13:95728600-95744200	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr13:95728600-95776000	Weak transcription	Gastric	stomach
43	chr13:95730200-95734800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr13:95730800-95740000	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr13:95731200-95791600	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr13:95731600-95756000	Weak transcription	Stomach Smooth Muscle	stomach
47	chr13:95731600-95756600	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr13:95732000-95739800	Weak transcription	GM12878-XiMat	blood
49	chr13:95732600-95734000	Strong transcription	A549	lung
50	chr13:95732800-95751800	Weak transcription	Primary T cells from cord blood	blood

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