Variant report

Variant	rs4148527
Chromosome Location	chr13:95752689-95752690
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:95752245..95755943-chr13:95774951..95780273,6	MCF-7	breast:
2	chr13:95751490..95755868-chr13:95765298..95769920,8	MCF-7	breast:
3	chr13:95751186..95754744-chr13:95765427..95767632,4	MCF-7	breast:
4	chr13:95751441..95753524-chr13:95778605..95780452,2	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1080482	1.00[JPT][hapmap]
rs12584534	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12853981	0.84[CHB][hapmap]
rs12868708	0.84[CHB][hapmap]
rs1617785	0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1628382	1.00[CEU][hapmap];0.89[CHB][hapmap];0.88[EUR][1000 genomes]
rs1630807	0.95[CHB][hapmap];0.83[ASN][1000 genomes]
rs1678352	0.91[ASN][1000 genomes]
rs1678354	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1678363	0.89[CHB][hapmap];0.81[ASN][1000 genomes]
rs1678366	0.88[ASN][1000 genomes]
rs1729759	0.95[CHB][hapmap];0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs1729760	0.91[ASN][1000 genomes]
rs1729775	0.89[CHB][hapmap];0.81[ASN][1000 genomes]
rs17300696	0.84[CHB][hapmap]
rs1751059	0.95[CHB][hapmap];0.83[ASN][1000 genomes]
rs2274401	0.80[CHB][hapmap]
rs34857509	0.80[AFR][1000 genomes]
rs35074427	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3782944	0.84[CHB][hapmap]
rs3782945	0.84[CHB][hapmap]
rs3782946	0.84[CHB][hapmap]
rs3782949	0.84[CHB][hapmap];0.90[JPT][hapmap]
rs4148530	0.89[CHB][hapmap];0.90[JPT][hapmap];0.90[YRI][hapmap];0.80[AFR][1000 genomes]
rs4148532	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs4148534	0.84[CHB][hapmap]
rs4148535	0.84[CHB][hapmap]
rs6650282	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs8001657	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs922522	0.84[CHB][hapmap]
rs9561775	0.84[CHB][hapmap]
rs9561778	0.84[CHB][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:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95723800-95760000	Weak transcription	Colon Smooth Muscle	Colon
2	chr13:95724000-95760600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr13:95727000-95791600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr13:95727000-95812000	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr13:95727600-95761000	Weak transcription	K562	blood
6	chr13:95727800-95767800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr13:95728400-95778800	Weak transcription	Ovary	ovary
8	chr13:95728600-95776000	Weak transcription	Gastric	stomach
9	chr13:95731200-95791600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr13:95731600-95756000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr13:95731600-95756600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr13:95740400-95753000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr13:95740400-95756600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr13:95740600-95752800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr13:95740600-95772200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr13:95740800-95791200	Weak transcription	NHLF	lung
17	chr13:95741000-95756800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr13:95741400-95763400	Weak transcription	Left Ventricle	heart
19	chr13:95741600-95772600	Weak transcription	Primary hematopoietic stem cells	blood
20	chr13:95742800-95755200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr13:95744200-95765200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr13:95749600-95761000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr13:95750000-95753200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr13:95750400-95757000	Weak transcription	Fetal Intestine Small	intestine
25	chr13:95750400-95812400	Weak transcription	Duodenum Mucosa	Duodenum
26	chr13:95750400-95815400	Weak transcription	Fetal Intestine Large	intestine
27	chr13:95751000-95793400	Weak transcription	Fetal Kidney	kidney
28	chr13:95751200-95752800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr13:95751200-95753600	Enhancers	Stomach Mucosa	stomach
30	chr13:95751200-95754200	Enhancers	HUVEC	blood vessel
31	chr13:95751400-95777600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr13:95751600-95752800	Flanking Active TSS	A549	lung
33	chr13:95751600-95756400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr13:95751600-95756600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr13:95751600-95795600	Weak transcription	Small Intestine	intestine
36	chr13:95751800-95752800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr13:95751800-95753600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr13:95751800-95754000	Enhancers	NHDF-Ad	bronchial
39	chr13:95752000-95754400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr13:95752000-95756800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr13:95752000-95757400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr13:95752000-95789000	Weak transcription	Aorta	Aorta
43	chr13:95752200-95752800	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr13:95752200-95753000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr13:95752200-95753600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr13:95752200-95753800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr13:95752200-95754000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr13:95752200-95757400	Weak transcription	Lung	lung
49	chr13:95752200-95760600	Weak transcription	GM12878-XiMat	blood
50	chr13:95752200-95823200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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