Variant report

Variant	rs719199
Chromosome Location	chr13:30389252-30389253
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	chr13:30388860..30391420-chr13:30421974..30424803,2	MCF-7	breast:

Extended variants
information (count: 128 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:125)

rs_ID	r²[population]
rs1099277	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12859613	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs12861019	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12864739	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12865525	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12867537	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12868298	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12868469	0.85[EUR][1000 genomes]
rs12869833	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12872768	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12874615	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12875231	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12877107	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1327643	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1571255	0.87[ASN][1000 genomes]
rs1631987	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs166760	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17073897	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17073905	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17073919	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1747057	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1747058	1.00[ASN][1000 genomes]
rs1747059	1.00[ASN][1000 genomes]
rs1747060	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1747061	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1747062	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1747063	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17502757	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1772726	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2009535	0.82[ASN][1000 genomes]
rs2031280	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2182775	0.82[ASN][1000 genomes]
rs2182776	0.82[ASN][1000 genomes]
rs2182777	0.82[ASN][1000 genomes]
rs2256122	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2476650	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2476651	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2761929	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2761930	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2761931	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2761932	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2761934	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2761936	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278031	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278032	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278033	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278035	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278036	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278039	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278043	1.00[ASN][1000 genomes]
rs278047	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2794295	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2794296	1.00[ASN][1000 genomes]
rs2794297	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2794299	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2794300	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2892464	0.84[EUR][1000 genomes]
rs3118078	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3118079	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3118080	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34114731	0.82[EUR][1000 genomes]
rs34129219	0.85[EUR][1000 genomes]
rs34232669	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34317115	0.85[EUR][1000 genomes]
rs34333613	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34726132	0.82[EUR][1000 genomes]
rs34837672	0.85[EUR][1000 genomes]
rs34943308	0.82[EUR][1000 genomes]
rs35177317	0.85[EUR][1000 genomes]
rs35452290	0.82[EUR][1000 genomes]
rs35520191	0.85[EUR][1000 genomes]
rs35693706	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35727212	0.85[EUR][1000 genomes]
rs35735441	0.85[EUR][1000 genomes]
rs35828457	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35849390	0.82[EUR][1000 genomes]
rs35933528	0.85[EUR][1000 genomes]
rs36082926	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4083609	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4142339	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs4142340	1.00[ASN][1000 genomes]
rs4335642	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4379924	0.87[ASN][1000 genomes]
rs4385989	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4399408	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs4611301	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4769021	0.82[ASN][1000 genomes]
rs4769023	0.82[ASN][1000 genomes]
rs4769024	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4769773	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs57634252	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58961964	1.00[ASN][1000 genomes]
rs6490427	1.00[ASN][1000 genomes]
rs6490428	1.00[ASN][1000 genomes]
rs6490431	1.00[ASN][1000 genomes]
rs71427282	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71427283	1.00[ASN][1000 genomes]
rs71434758	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71434759	0.85[EUR][1000 genomes]
rs71434760	0.85[EUR][1000 genomes]
rs71434762	0.85[EUR][1000 genomes]
rs71434763	0.85[EUR][1000 genomes]
rs71434764	0.82[EUR][1000 genomes]
rs71434765	0.82[EUR][1000 genomes]
rs71434766	0.82[EUR][1000 genomes]
rs7322158	0.87[ASN][1000 genomes]
rs74044752	1.00[ASN][1000 genomes]
rs7983788	1.00[ASN][1000 genomes]
rs7985986	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7992684	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8000607	0.85[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8000887	0.86[EUR][1000 genomes]
rs8001320	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs8001330	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs818763	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs818764	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs912394	0.87[ASN][1000 genomes]
rs9314977	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs943561	0.82[ASN][1000 genomes]
rs9508549	0.82[ASN][1000 genomes]
rs9508551	1.00[ASN][1000 genomes]
rs9550492	1.00[ASN][1000 genomes]
rs9551734	0.87[ASN][1000 genomes]
rs968612	1.00[ASN][1000 genomes]
rs9788356	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	nsv899961	chr13:30226924-30407273	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 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	chr13:30376600-30420600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr13:30377400-30390000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr13:30378000-30391800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr13:30381600-30390600	Weak transcription	Primary B cells from peripheral blood	blood
5	chr13:30382600-30390800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr13:30384800-30389600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr13:30385000-30391400	Weak transcription	Osteobl	bone
8	chr13:30385200-30391200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr13:30385400-30389400	Weak transcription	Colon Smooth Muscle	Colon
10	chr13:30385600-30390400	Weak transcription	GM12878-XiMat	blood
11	chr13:30385600-30391400	Weak transcription	Brain Germinal Matrix	brain
12	chr13:30385800-30389600	Weak transcription	Brain Anterior Caudate	brain
13	chr13:30385800-30390600	Weak transcription	Gastric	stomach
14	chr13:30385800-30390600	Weak transcription	Psoas Muscle	Psoas
15	chr13:30385800-30391200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr13:30385800-30391800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr13:30385800-30403000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr13:30385800-30406800	Weak transcription	Pancreas	Pancrea
19	chr13:30385800-30410600	Weak transcription	Small Intestine	intestine
20	chr13:30386000-30390600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr13:30386000-30390600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr13:30386000-30391000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr13:30386000-30391000	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr13:30386000-30391400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr13:30386000-30406200	Weak transcription	Fetal Intestine Small	intestine
26	chr13:30386200-30391000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr13:30386200-30392200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr13:30386400-30390400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr13:30386400-30390600	Weak transcription	Ovary	ovary
30	chr13:30386600-30389600	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr13:30386600-30391000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr13:30386800-30391200	Weak transcription	Liver	Liver
33	chr13:30386800-30394000	Weak transcription	Stomach Mucosa	stomach
34	chr13:30387200-30390400	Enhancers	Brain Hippocampus Middle	brain
35	chr13:30387600-30393600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr13:30388000-30390600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr13:30388200-30389600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr13:30388200-30391200	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr13:30388200-30391400	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr13:30388200-30391600	Weak transcription	Fetal Brain Female	brain
41	chr13:30388400-30391200	Weak transcription	Brain Angular Gyrus	brain
42	chr13:30388800-30389800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr13:30388800-30391200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr13:30388800-30391800	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr13:30389000-30390000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr13:30389000-30390600	Weak transcription	Aorta	Aorta
47	chr13:30389000-30391000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr13:30389000-30391000	Weak transcription	Left Ventricle	heart
49	chr13:30389000-30395800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr13:30389200-30389400	Enhancers	Primary hematopoietic stem cells	blood

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