Variant report

Variant	rs4148530
Chromosome Location	chr13:95736996-95736997
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1080482	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12584534	0.90[CHB][hapmap];0.83[CHD][hapmap]
rs12853981	0.95[CHB][hapmap];0.89[CHD][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs12861846	0.83[ASN][1000 genomes]
rs12867863	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12868708	0.95[CHB][hapmap]
rs1351257	0.95[ASN][1000 genomes]
rs1617785	0.85[CHB][hapmap];0.81[CHD][hapmap];0.90[JPT][hapmap]
rs1630807	0.85[CHB][hapmap]
rs1678344	0.81[ASN][1000 genomes]
rs1678354	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs1729759	0.85[CHB][hapmap];0.81[CHD][hapmap]
rs17300696	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs1750190	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs1751059	0.85[CHB][hapmap]
rs2274401	0.95[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs34857509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35207821	0.85[ASN][1000 genomes]
rs3782942	0.85[ASN][1000 genomes]
rs3782943	0.85[ASN][1000 genomes]
rs3782944	0.95[CHB][hapmap];0.92[CHD][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs3782945	0.95[CHB][hapmap];0.92[CHD][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs3782946	0.95[CHB][hapmap];0.92[CHD][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs3782949	0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4148527	0.89[CHB][hapmap];0.90[JPT][hapmap];0.90[YRI][hapmap];0.80[AFR][1000 genomes]
rs4148532	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4148534	0.95[CHB][hapmap];0.97[CHD][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs4148535	0.95[CHB][hapmap];0.86[CHD][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs66502335	0.95[ASN][1000 genomes]
rs6650282	0.85[CHB][hapmap];0.80[CHD][hapmap];0.90[JPT][hapmap]
rs8001657	0.90[CHB][hapmap];0.86[CHD][hapmap];0.90[JPT][hapmap]
rs922522	0.95[CHB][hapmap];0.92[CHD][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs9556457	0.80[ASN][1000 genomes]
rs9561775	0.95[CHB][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs9561776	0.89[CHB][hapmap];0.80[ASN][1000 genomes]
rs9561778	0.95[CHB][hapmap];0.91[CHD][hapmap];0.90[JPT][hapmap];0.85[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

No data

Chromatin state (count:48 , 50 per page) page: 1

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	chr13:95686800-95744600	Weak transcription	Esophagus	oesophagus
5	chr13:95710400-95741200	Weak transcription	Right Ventricle	heart
6	chr13:95718000-95741800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr13:95719600-95739800	Weak transcription	Pancreas	Pancrea
8	chr13:95723000-95742200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr13:95723800-95760000	Weak transcription	Colon Smooth Muscle	Colon
10	chr13:95724000-95740000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr13:95724000-95751800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr13:95724000-95760600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr13:95724200-95740000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr13:95724200-95749600	Weak transcription	Fetal Intestine Large	intestine
15	chr13:95726400-95739800	Weak transcription	NH-A	brain
16	chr13:95727000-95739800	Weak transcription	NHLF	lung
17	chr13:95727000-95752600	Weak transcription	HSMM	muscle
18	chr13:95727000-95791600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr13:95727000-95812000	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr13:95727200-95740000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr13:95727600-95761000	Weak transcription	K562	blood
22	chr13:95727800-95744200	Weak transcription	Spleen	Spleen
23	chr13:95727800-95767800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr13:95728400-95778800	Weak transcription	Ovary	ovary
25	chr13:95728600-95744200	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr13:95728600-95776000	Weak transcription	Gastric	stomach
27	chr13:95730800-95740000	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr13:95731200-95791600	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr13:95731600-95756000	Weak transcription	Stomach Smooth Muscle	stomach
30	chr13:95731600-95756600	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr13:95732000-95739800	Weak transcription	GM12878-XiMat	blood
32	chr13:95732800-95751800	Weak transcription	Primary T cells from cord blood	blood
33	chr13:95733600-95750000	Weak transcription	Lung	lung
34	chr13:95733800-95737400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr13:95733800-95742000	Weak transcription	Aorta	Aorta
36	chr13:95733800-95750000	Weak transcription	Fetal Intestine Small	intestine
37	chr13:95733800-95751600	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr13:95734000-95737800	Weak transcription	A549	lung
39	chr13:95734800-95737400	Enhancers	Primary hematopoietic stem cells	blood
40	chr13:95735000-95737400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr13:95735400-95738000	Enhancers	HUVEC	blood vessel
42	chr13:95735800-95737200	Enhancers	NHEK	skin
43	chr13:95736000-95742000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr13:95736600-95737800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr13:95736600-95739000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr13:95736600-95739400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr13:95736600-95739600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr13:95736800-95740000	Weak transcription	Muscle Satellite Cultured Cells	--

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