Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:11481545..11486787-chr2:11491378..11496218,8	MCF-7	breast:
2	chr2:11371185..11373729-chr2:11493599..11495134,2	MCF-7	breast:
3	chr2:11494304..11496059-chr2:11510335..11513048,2	MCF-7	breast:
4	chr2:11492972..11495915-chr2:11496036..11497554,2	MCF-7	breast:
5	chr2:11493213..11495173-chr2:11500726..11502592,2	K562	blood:
6	chr2:11482706..11486721-chr2:11493256..11495593,5	K562	blood:

Variant related genes	Relation type
ENSG00000134318	Chromatin interaction

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10187981	0.87[CEU][hapmap]
rs10208872	1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10929727	0.87[CEU][hapmap]
rs11676201	0.87[CEU][hapmap]
rs12622447	0.81[TSI][hapmap]
rs1868585	0.87[CEU][hapmap]
rs2290156	0.87[CEU][hapmap]
rs4669702	0.95[CEU][hapmap]
rs6739422	0.93[ASN][1000 genomes]
rs7581184	0.87[CHB][hapmap];0.91[GIH][hapmap];0.84[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 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	chr2:11485800-11497400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:11485800-11497400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:11489000-11495600	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr2:11489400-11496800	Weak transcription	Adipose Nuclei	Adipose
5	chr2:11492600-11500600	Enhancers	Fetal Intestine Large	intestine
6	chr2:11493000-11495200	Enhancers	Lung	lung
7	chr2:11493600-11496800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:11493600-11497400	Weak transcription	Liver	Liver
9	chr2:11493800-11495400	Enhancers	Stomach Mucosa	stomach
10	chr2:11494600-11495000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:11494600-11495000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:11494600-11495200	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr2:11494600-11498200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:11494600-11498200	Enhancers	Spleen	Spleen
15	chr2:11494600-11498400	Enhancers	Fetal Intestine Small	intestine
16	chr2:11494800-11495000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr2:11494800-11495000	Enhancers	Gastric	stomach
18	chr2:11494800-11495800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr2:11494800-11496400	Flanking Active TSS	HepG2	liver
20	chr2:11494800-11498800	Enhancers	Fetal Muscle Leg	muscle
21	chr2:11494800-11498800	Enhancers	Placenta	Placenta

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