Variant report

Variant	rs1751055
Chromosome Location	chr13:95742440-95742441
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs1189430	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1189431	1.00[EUR][1000 genomes]
rs1189432	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1189433	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1189434	1.00[CEU][hapmap];0.88[JPT][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1189435	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1189436	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1189437	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs1189438	1.00[CEU][hapmap];0.88[JPT][hapmap];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1189439	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs1189440	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1189451	0.94[JPT][hapmap]
rs1189452	0.94[JPT][hapmap]
rs1189456	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1189461	1.00[CEU][hapmap];0.94[JPT][hapmap];0.86[EUR][1000 genomes]
rs1189462	1.00[CEU][hapmap];0.94[JPT][hapmap];0.86[EUR][1000 genomes]
rs1189464	0.86[EUR][1000 genomes]
rs1189466	1.00[CEU][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1189467	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1612388	0.84[JPT][hapmap]
rs1629441	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1630901	0.84[JPT][hapmap]
rs1678339	1.00[CEU][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1678341	1.00[CHB][hapmap];0.88[JPT][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1678347	0.82[EUR][1000 genomes]
rs1678351	1.00[CEU][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1678353	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1678362	1.00[CEU][hapmap];0.88[JPT][hapmap];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1678365	1.00[CEU][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1678387	1.00[CEU][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1678395	0.86[CHB][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1678409	1.00[CEU][hapmap];0.84[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1729745	1.00[CEU][hapmap];0.84[JPT][hapmap]
rs1729747	0.84[JPT][hapmap]
rs1729752	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs1729753	0.83[EUR][1000 genomes]
rs1729755	0.83[EUR][1000 genomes]
rs1729773	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1751031	0.84[JPT][hapmap]
rs1751033	0.84[JPT][hapmap]
rs1751036	1.00[CEU][hapmap];0.84[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1751037	1.00[CEU][hapmap];0.94[JPT][hapmap];0.86[EUR][1000 genomes]
rs1751042	1.00[CEU][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1751043	1.00[CEU][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1751046	0.83[EUR][1000 genomes]
rs1751052	0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs1751056	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1751057	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1751060	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1751061	0.81[EUR][1000 genomes]
rs2619308	0.85[EUR][1000 genomes]
rs2619311	0.94[JPT][hapmap]
rs2619312	0.94[JPT][hapmap]
rs2766475	1.00[CEU][hapmap];0.84[JPT][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2950957	1.00[CEU][hapmap];0.84[JPT][hapmap];0.83[EUR][1000 genomes]
rs4148540	0.82[CEU][hapmap]
rs4773840	1.00[CHB][hapmap];0.88[JPT][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7330330	0.82[CEU][hapmap]
rs7331488	0.82[CEU][hapmap]
rs931111	0.84[JPT][hapmap]
rs943289	1.00[CEU][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9561765	0.82[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95669600-95744000	Weak transcription	Small Intestine	intestine
2	chr13:95683200-95751800	Weak transcription	Fetal Lung	lung
3	chr13:95686800-95744600	Weak transcription	Esophagus	oesophagus
4	chr13:95723800-95760000	Weak transcription	Colon Smooth Muscle	Colon
5	chr13:95724000-95751800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr13:95724000-95760600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr13:95724200-95749600	Weak transcription	Fetal Intestine Large	intestine
8	chr13:95727000-95752600	Weak transcription	HSMM	muscle
9	chr13:95727000-95791600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr13:95727000-95812000	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr13:95727600-95761000	Weak transcription	K562	blood
12	chr13:95727800-95744200	Weak transcription	Spleen	Spleen
13	chr13:95727800-95767800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr13:95728400-95778800	Weak transcription	Ovary	ovary
15	chr13:95728600-95744200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr13:95728600-95776000	Weak transcription	Gastric	stomach
17	chr13:95731200-95791600	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr13:95731600-95756000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr13:95731600-95756600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr13:95732800-95751800	Weak transcription	Primary T cells from cord blood	blood
21	chr13:95733600-95750000	Weak transcription	Lung	lung
22	chr13:95733800-95750000	Weak transcription	Fetal Intestine Small	intestine
23	chr13:95733800-95751600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr13:95740200-95742600	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr13:95740400-95752200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr13:95740400-95753000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr13:95740400-95756600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr13:95740600-95748400	Weak transcription	GM12878-XiMat	blood
29	chr13:95740600-95752800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr13:95740600-95772200	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr13:95740800-95791200	Weak transcription	NHLF	lung
32	chr13:95741000-95756800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr13:95741200-95742600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr13:95741200-95744000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr13:95741400-95763400	Weak transcription	Left Ventricle	heart
36	chr13:95741600-95742600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr13:95741600-95742800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr13:95741600-95772600	Weak transcription	Primary hematopoietic stem cells	blood
39	chr13:95741800-95751200	Weak transcription	HUVEC	blood vessel
40	chr13:95742000-95742800	Strong transcription	A549	lung
41	chr13:95742000-95743200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr13:95742200-95742600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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