Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:57131157..57133678-chr5:57139848..57142314,2	MCF-7	breast:
2	chr5:57138883..57141351-chr5:57755276..57756971,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145632	Chromatin interaction

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10940579	0.82[CEU][hapmap];0.90[AMR][1000 genomes]
rs11740778	0.83[EUR][1000 genomes]
rs11744848	0.84[EUR][1000 genomes]
rs12516650	0.83[EUR][1000 genomes]
rs12659683	0.94[CEU][hapmap];0.84[CHB][hapmap];0.87[JPT][hapmap];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13175128	0.83[EUR][1000 genomes]
rs1835874	0.90[AMR][1000 genomes]
rs1968422	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1972768	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34194290	0.81[EUR][1000 genomes]
rs34962616	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525330	chr5:56931673-57320343	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2756302	chr5:56978143-57180143	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830310	chr5:56989346-57176006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2763454	chr5:57006531-57161140	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57131400-57141000	Weak transcription	Left Ventricle	heart
2	chr5:57136800-57141200	Enhancers	Fetal Muscle Leg	muscle
3	chr5:57137600-57142800	Weak transcription	Fetal Brain Male	brain
4	chr5:57137800-57141000	Weak transcription	Right Ventricle	heart
5	chr5:57138000-57143000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:57138200-57141000	Enhancers	NHEK	skin
7	chr5:57138200-57142800	Weak transcription	Fetal Lung	lung
8	chr5:57138200-57143600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr5:57138400-57143400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr5:57138600-57141200	Enhancers	HUVEC	blood vessel
11	chr5:57138800-57142600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr5:57138800-57151800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:57139200-57143800	Weak transcription	HMEC	breast
14	chr5:57139600-57140800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr5:57140200-57141000	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr5:57140400-57140800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr5:57140400-57141200	Enhancers	Adipose Nuclei	Adipose
18	chr5:57140400-57141200	Enhancers	Spleen	Spleen
19	chr5:57140600-57143600	Weak transcription	HSMM	muscle
20	chr5:57140600-57146000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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