Variant report

Variant	rs2478464
Chromosome Location	chr13:95777041-95777042
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:95773275..95777718-chr13:95779226..95784336,7	MCF-7	breast:
2	chr13:95775051..95777791-chr13:95778708..95781627,3	MCF-7	breast:
3	chr13:95775918..95777949-chr13:95804692..95806351,2	MCF-7	breast:
4	chr13:95765198..95767036-chr13:95776278..95779037,2	MCF-7	breast:
5	chr13:95752245..95755943-chr13:95774951..95780273,6	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1189423	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1189424	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1189425	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1189428	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1189429	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1564353	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1564354	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1564355	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1618485	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1678342	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1678371	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1678394	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1729742	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1729748	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1729751	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1729761	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1751064	0.90[ASN][1000 genomes]
rs2127295	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2127296	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2619314	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2698243	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2766481	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3782956	0.90[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs3825415	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5023599	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7331308	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv533659	chr13:95757713-96042149	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv832689	chr13:95759073-95921308	Genic enhancers ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95727000-95791600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr13:95727000-95812000	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr13:95728400-95778800	Weak transcription	Ovary	ovary
4	chr13:95731200-95791600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr13:95740800-95791200	Weak transcription	NHLF	lung
6	chr13:95750400-95812400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr13:95750400-95815400	Weak transcription	Fetal Intestine Large	intestine
8	chr13:95751000-95793400	Weak transcription	Fetal Kidney	kidney
9	chr13:95751400-95777600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr13:95751600-95795600	Weak transcription	Small Intestine	intestine
11	chr13:95752000-95789000	Weak transcription	Aorta	Aorta
12	chr13:95752200-95823200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr13:95752200-95844200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr13:95754000-95777200	Weak transcription	NHDF-Ad	bronchial
15	chr13:95754000-95794800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr13:95754400-95782600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr13:95756400-95828200	Weak transcription	HSMM	muscle
18	chr13:95757600-95814400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr13:95758000-95791600	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr13:95761400-95789200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr13:95762200-95817200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr13:95762400-95811800	Weak transcription	K562	blood
23	chr13:95765600-95777400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr13:95767600-95779800	Weak transcription	Fetal Lung	lung
25	chr13:95768200-95783400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr13:95768200-95806600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr13:95768200-95819000	Weak transcription	Fetal Intestine Small	intestine
28	chr13:95769000-95789400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr13:95769400-95780200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr13:95769400-95791200	Weak transcription	Esophagus	oesophagus
31	chr13:95769800-95789000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr13:95770200-95789200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr13:95771200-95780200	Weak transcription	Brain Anterior Caudate	brain
34	chr13:95771800-95780200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr13:95773000-95777400	Enhancers	HepG2	liver
36	chr13:95773400-95779800	Weak transcription	Lung	lung
37	chr13:95774200-95784000	Enhancers	Stomach Mucosa	stomach
38	chr13:95774400-95780600	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr13:95774400-95781200	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr13:95774400-95781600	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr13:95774400-95788800	Weak transcription	GM12878-XiMat	blood
42	chr13:95774400-95788800	Weak transcription	NHEK	skin
43	chr13:95774600-95791200	Weak transcription	Primary T cells from cord blood	blood
44	chr13:95774600-95815800	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr13:95774800-95779800	Weak transcription	HUVEC	blood vessel
46	chr13:95776400-95779800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr13:95776400-95780000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr13:95776600-95778000	Enhancers	A549	lung
49	chr13:95776600-95779800	Weak transcription	Pancreas	Pancrea
50	chr13:95776600-95780600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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