Variant report

Variant	rs2619314
Chromosome Location	chr13:95764561-95764562
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:95762797..95765329-chr13:95769234..95770781,2	MCF-7	breast:
2	chr13:95763899..95767263-chr13:95780210..95781935,3	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1189423	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1189424	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1189425	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1189428	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1189429	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1564353	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1564354	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1564355	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1618485	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1678342	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1678371	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1678394	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1729742	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1729748	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1729751	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1729761	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2127295	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2127296	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2478464	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2698243	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2766481	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3782956	0.87[ASN][1000 genomes]
rs3825415	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5023599	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7331308	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[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:55 , 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	chr13:95727800-95767800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr13:95728400-95778800	Weak transcription	Ovary	ovary
5	chr13:95728600-95776000	Weak transcription	Gastric	stomach
6	chr13:95731200-95791600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr13:95740600-95772200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr13:95740800-95791200	Weak transcription	NHLF	lung
9	chr13:95741600-95772600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr13:95744200-95765200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr13:95750400-95812400	Weak transcription	Duodenum Mucosa	Duodenum
12	chr13:95750400-95815400	Weak transcription	Fetal Intestine Large	intestine
13	chr13:95751000-95793400	Weak transcription	Fetal Kidney	kidney
14	chr13:95751400-95777600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr13:95751600-95795600	Weak transcription	Small Intestine	intestine
16	chr13:95752000-95789000	Weak transcription	Aorta	Aorta
17	chr13:95752200-95823200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr13:95752200-95844200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr13:95753400-95775400	Weak transcription	HSMMtube	muscle
20	chr13:95753600-95767400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr13:95753600-95772600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr13:95754000-95766800	Weak transcription	Osteobl	bone
23	chr13:95754000-95777200	Weak transcription	NHDF-Ad	bronchial
24	chr13:95754000-95794800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr13:95754400-95768000	Weak transcription	NH-A	brain
26	chr13:95754400-95782600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr13:95755000-95774200	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr13:95755400-95776400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr13:95756400-95828200	Weak transcription	HSMM	muscle
30	chr13:95756600-95766400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr13:95757600-95772800	Weak transcription	Lung	lung
32	chr13:95757600-95814400	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr13:95758000-95764800	Weak transcription	Stomach Smooth Muscle	stomach
34	chr13:95758000-95766600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr13:95758000-95791600	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr13:95758200-95769200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr13:95758200-95774000	Weak transcription	Primary T cells from cord blood	blood
38	chr13:95758400-95772800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr13:95758600-95769200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr13:95760400-95766600	Weak transcription	Stomach Mucosa	stomach
41	chr13:95761400-95766800	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr13:95761400-95789200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr13:95761600-95769000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr13:95761600-95774000	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr13:95762200-95765000	Weak transcription	GM12878-XiMat	blood
46	chr13:95762200-95817200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr13:95762400-95774000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr13:95762400-95811800	Weak transcription	K562	blood
49	chr13:95763000-95774000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr13:95763200-95765600	Genic enhancers	A549	lung

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