Variant report

Variant	rs12692748
Chromosome Location	chr2:151381624-151381625
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:151342650..151345471-chr2:151380012..151385936,6	MCF-7	breast:
2	chr2:151377855..151379453-chr2:151381453..151383648,2	MCF-7	breast:
3	chr2:151340012..151345676-chr2:151379784..151387560,12	MCF-7	breast:
4	chr2:151376819..151380137-chr2:151381497..151383418,3	MCF-7	breast:
5	chr2:151380440..151382886-chr2:151384300..151385802,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115963	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10177711	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10497060	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10803791	0.82[ASN][1000 genomes]
rs10930130	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11686078	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12692718	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12692720	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12692722	0.96[CEU][hapmap];0.88[CHB][hapmap];0.93[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12692729	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12692739	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12692740	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12692747	0.84[ASN][1000 genomes]
rs13011088	0.83[ASN][1000 genomes]
rs13012155	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13031372	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1569158	0.82[ASN][1000 genomes]
rs1609302	0.92[CEU][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1852688	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1852689	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1919142	0.85[ASN][1000 genomes]
rs2222760	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[ASN][1000 genomes]
rs6432778	0.96[CEU][hapmap];0.93[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6432779	0.96[CEU][hapmap];0.93[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6432791	0.85[ASN][1000 genomes]
rs6721757	0.96[CEU][hapmap];0.93[JPT][hapmap]
rs6722263	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6735265	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6757626	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72865991	0.94[ASN][1000 genomes]
rs7561737	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7586782	0.83[ASN][1000 genomes]
rs7600506	0.83[ASN][1000 genomes]
rs7603369	0.93[ASN][1000 genomes]
rs7605020	0.85[ASN][1000 genomes]
rs7609510	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001838	chr2:150819672-151745876	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv535980	chr2:150819672-151745876	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv532473	chr2:151164210-151701860	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv834414	chr2:151209374-151413309	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1001777	chr2:151351927-151395620	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv2762286	chr2:151351927-151395632	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv834415	chr2:151374254-151558649	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151377400-151389800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:151378000-151382600	Weak transcription	A549	lung
3	chr2:151378200-151382600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:151378200-151382600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:151378200-151382600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr2:151378200-151382600	Weak transcription	NH-A	brain
7	chr2:151378200-151382600	Weak transcription	Osteobl	bone
8	chr2:151378200-151382800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:151378200-151383000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:151378400-151382400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:151378400-151382400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:151378400-151382600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:151378400-151382600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:151378400-151385200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:151378600-151382200	Weak transcription	NHEK	skin
16	chr2:151378600-151382600	Weak transcription	HMEC	breast
17	chr2:151378600-151382600	Weak transcription	NHDF-Ad	bronchial
18	chr2:151378800-151382600	Weak transcription	NHLF	lung
19	chr2:151379000-151382800	Weak transcription	HSMM	muscle
20	chr2:151379200-151382400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr2:151379200-151382600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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