Variant report

Variant	rs13027462
Chromosome Location	chr2:63154816-63154817
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:63153391..63155926-chr2:63157542..63159626,2	MCF-7	breast:
2	chr2:63153752..63155559-chr2:63158267..63160556,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1123508	0.91[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.87[ASN][1000 genomes]
rs11687372	0.84[ASN][1000 genomes]
rs12474184	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12991414	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13004408	1.00[ASW][hapmap]
rs13006926	0.91[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];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13026938	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2018650	1.00[ASW][hapmap];0.91[CEU][hapmap];0.94[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.85[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.88[TSI][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2162011	0.88[CHB][hapmap]
rs2302567	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2710638	0.90[GIH][hapmap]
rs34506567	0.86[ASN][1000 genomes]
rs35589581	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35617987	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35765206	0.84[AFR][1000 genomes]
rs35881827	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4671052	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4671449	0.84[ASN][1000 genomes]
rs4671451	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs4671452	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4671453	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.83[MEX][hapmap];0.92[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4671454	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv535767	chr2:62461582-63413596	Bivalent Enhancer Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv3417336	chr2:62957866-63749654	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv428041	chr2:63027947-63206574	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1006848	chr2:63061816-63631407	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	esv2756598	chr2:63085848-63491438	Strong transcription Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	esv3340700	chr2:63127412-63534998	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63122800-63166600	Weak transcription	HMEC	breast
2	chr2:63142400-63190800	Weak transcription	Brain Angular Gyrus	brain
3	chr2:63145000-63155400	Weak transcription	HUVEC	blood vessel
4	chr2:63150400-63161400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:63150600-63176000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr2:63151200-63161600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr2:63151200-63161600	Weak transcription	NHDF-Ad	bronchial
8	chr2:63151200-63166000	Weak transcription	Liver	Liver
9	chr2:63151200-63166800	Weak transcription	NHEK	skin
10	chr2:63151200-63167200	Weak transcription	HSMM	muscle
11	chr2:63151200-63171200	Weak transcription	Ovary	ovary
12	chr2:63151200-63175600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr2:63151200-63182800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr2:63151400-63155400	Weak transcription	Aorta	Aorta
15	chr2:63151400-63157200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:63151400-63157200	Weak transcription	Left Ventricle	heart
17	chr2:63151400-63157200	Weak transcription	Pancreas	Pancrea
18	chr2:63151400-63159200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr2:63151400-63166400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:63151400-63166600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:63151400-63166800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:63151400-63169600	Weak transcription	A549	lung
23	chr2:63151400-63171400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:63151400-63194200	Weak transcription	Esophagus	oesophagus
25	chr2:63151400-63194200	Weak transcription	Fetal Brain Male	brain
26	chr2:63151400-63200800	Weak transcription	Fetal Stomach	stomach
27	chr2:63151400-63208800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr2:63151400-63272200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr2:63151600-63156400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:63152000-63165000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:63152200-63165000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:63152200-63169200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr2:63152200-63175600	Weak transcription	Primary T cells from cord blood	blood
34	chr2:63152600-63160400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:63154000-63162000	Strong transcription	HepG2	liver
36	chr2:63154400-63209000	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr2:63154800-63155600	Enhancers	K562	blood
38	chr2:63154800-63155800	Enhancers	Dnd41	blood

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