Variant report

Variant	rs2698243
Chromosome Location	chr13:95748725-95748726
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:95739447..95741591-chr13:95747968..95750344,2	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1189423	0.82[EUR][1000 genomes]
rs1189424	0.83[EUR][1000 genomes]
rs1189425	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1189428	0.82[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs1189429	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1189457	0.82[JPT][hapmap]
rs1189465	0.86[JPT][hapmap]
rs1189468	0.82[JPT][hapmap]
rs1564353	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1564354	0.88[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1564355	0.88[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1617785	0.85[CEU][hapmap]
rs1618485	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1618738	0.91[JPT][hapmap]
rs1630807	0.85[CEU][hapmap]
rs1678342	0.88[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1678363	0.85[CEU][hapmap]
rs1678371	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1678394	0.88[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1729742	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1729748	0.88[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1729751	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1729761	1.00[JPT][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1751051	0.86[JPT][hapmap]
rs1751064	0.95[JPT][hapmap]
rs2127295	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2127296	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2478464	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2619314	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2766481	0.92[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3782956	0.87[ASN][1000 genomes]
rs3825415	0.88[CEU][hapmap];0.91[JPT][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5023599	0.84[ASN][1000 genomes]
rs6650282	0.85[CEU][hapmap]
rs7331308	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs943290	0.91[JPT][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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95683200-95751800	Weak transcription	Fetal Lung	lung
2	chr13:95723800-95760000	Weak transcription	Colon Smooth Muscle	Colon
3	chr13:95724000-95751800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr13:95724000-95760600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr13:95724200-95749600	Weak transcription	Fetal Intestine Large	intestine
6	chr13:95727000-95752600	Weak transcription	HSMM	muscle
7	chr13:95727000-95791600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr13:95727000-95812000	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr13:95727600-95761000	Weak transcription	K562	blood
10	chr13:95727800-95767800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr13:95728400-95778800	Weak transcription	Ovary	ovary
12	chr13:95728600-95776000	Weak transcription	Gastric	stomach
13	chr13:95731200-95791600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr13:95731600-95756000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr13:95731600-95756600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr13:95732800-95751800	Weak transcription	Primary T cells from cord blood	blood
17	chr13:95733600-95750000	Weak transcription	Lung	lung
18	chr13:95733800-95750000	Weak transcription	Fetal Intestine Small	intestine
19	chr13:95733800-95751600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr13:95740400-95752200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr13:95740400-95753000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr13:95740400-95756600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr13:95740600-95752800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr13:95740600-95772200	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr13:95740800-95791200	Weak transcription	NHLF	lung
26	chr13:95741000-95756800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr13:95741400-95763400	Weak transcription	Left Ventricle	heart
28	chr13:95741600-95772600	Weak transcription	Primary hematopoietic stem cells	blood
29	chr13:95741800-95751200	Weak transcription	HUVEC	blood vessel
30	chr13:95742600-95750200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr13:95742800-95755200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr13:95744200-95765200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr13:95746800-95752400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr13:95747400-95751800	Weak transcription	NHDF-Ad	bronchial
35	chr13:95748000-95751000	ZNF genes & repeats	A549	lung
36	chr13:95748400-95749800	ZNF genes & repeats	GM12878-XiMat	blood
37	chr13:95748600-95750000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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