Variant report

No.	Distal block	Cell Line	Cell type
1	chr3:135953105..135954994-chr3:135955237..135956991,2	MCF-7	breast:
2	chr3:135954886..135956782-chr3:136102988..136105563,2	MCF-7	breast:
3	chr3:135955194..135957382-chr3:135967889..135969974,2	MCF-7	breast:
4	chr3:135914260..135917175-chr3:135955428..135961207,5	MCF-7	breast:
5	chr3:135954969..135958105-chr3:135968052..135971178,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000114054	Chromatin interaction
ENSG00000174579	Chromatin interaction

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

rs_ID	r²[population]
rs1153870	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1153871	0.95[ASN][1000 genomes]
rs1154988	0.82[ASN][1000 genomes]
rs1278719	0.95[ASN][1000 genomes]
rs2459412	0.87[AMR][1000 genomes]
rs3755636	0.87[ASN][1000 genomes]
rs3957816	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs523118	0.88[ASN][1000 genomes]
rs534944	0.95[ASN][1000 genomes]
rs548288	0.84[ASN][1000 genomes]
rs590198	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs606725	0.82[ASN][1000 genomes]
rs632016	0.81[ASN][1000 genomes]
rs632251	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs634559	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs645040	0.84[ASN][1000 genomes]
rs661739	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs668437	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs684773	0.95[ASN][1000 genomes]
rs687339	0.84[ASN][1000 genomes]
rs895893	0.89[ASN][1000 genomes]
rs895894	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869409	chr3:135649101-136164174	Strong transcription Genic enhancers Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv508246	chr3:135922023-136038622	Active TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv2760738	chr3:135943988-135957333	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1153872	PCCB	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:135954600-135956000	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr3:135954600-135958400	Enhancers	HepG2	liver
3	chr3:135954800-135955800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr3:135955000-135956600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr3:135955000-135956600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr3:135955200-135956400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr3:135955400-135955800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr3:135955400-135956000	Weak transcription	Liver	Liver
9	chr3:135955800-135956600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr3:135955800-135957000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr3:135955800-135958000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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