Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:105279433..105282417-chr12:105292358..105295004,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11112248	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11112252	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11112314	1.00[ASW][hapmap];0.85[MKK][hapmap]
rs12296570	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12297659	0.87[AMR][1000 genomes]
rs12298260	1.00[MEX][hapmap]
rs12305186	0.87[AMR][1000 genomes]
rs12315904	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12317565	0.87[AMR][1000 genomes]
rs12319837	0.87[AMR][1000 genomes]
rs12321362	1.00[MEX][hapmap]
rs12321666	0.87[YRI][hapmap];0.87[AMR][1000 genomes]
rs7961764	1.00[ASW][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7980785	1.00[ASW][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv899498	chr12:105173598-105461620	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 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	chr12:105267800-105284200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr12:105273800-105288200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr12:105275400-105297000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr12:105276400-105281800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:105277000-105280400	Strong transcription	Liver	Liver
6	chr12:105278200-105281000	Enhancers	Fetal Lung	lung
7	chr12:105278200-105284400	Weak transcription	Aorta	Aorta
8	chr12:105278200-105284400	Weak transcription	Gastric	stomach
9	chr12:105278400-105293200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr12:105278600-105281600	Enhancers	Hela-S3	cervix
11	chr12:105278600-105313800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr12:105279000-105280400	Weak transcription	Osteobl	bone
13	chr12:105279200-105280400	Weak transcription	NHLF	lung
14	chr12:105279600-105280800	Enhancers	HUVEC	blood vessel
15	chr12:105279600-105281200	Enhancers	Muscle Satellite Cultured Cells	--
16	chr12:105279800-105280400	Enhancers	Stomach Mucosa	stomach
17	chr12:105280000-105280400	Enhancers	NH-A	brain
18	chr12:105280000-105280600	Enhancers	NHDF-Ad	bronchial
19	chr12:105280000-105280800	Flanking Active TSS	A549	lung
20	chr12:105280200-105280800	Enhancers	NHEK	skin

Quick Search: