Variant report

Variant	rs12701874
Chromosome Location	chr7:41278784-41278785
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:41277967..41280193-chr7:41283626..41286439,2	MCF-7	breast:
2	chr7:41200450..41202683-chr7:41278426..41280923,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10214990	0.80[ASN][1000 genomes]
rs10242681	0.90[CHD][hapmap];0.84[ASN][1000 genomes]
rs11765463	0.87[EUR][1000 genomes]
rs11768122	0.90[EUR][1000 genomes]
rs11768187	0.91[EUR][1000 genomes]
rs12154794	0.91[EUR][1000 genomes]
rs12155345	0.91[EUR][1000 genomes]
rs12668579	0.87[EUR][1000 genomes]
rs12674340	0.87[ASN][1000 genomes]
rs12701868	0.91[EUR][1000 genomes]
rs12701870	0.84[EUR][1000 genomes]
rs12701873	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13225532	0.83[EUR][1000 genomes]
rs13244372	0.87[EUR][1000 genomes]
rs13311231	0.90[EUR][1000 genomes]
rs1545195	0.90[EUR][1000 genomes]
rs1557928	0.87[EUR][1000 genomes]
rs2051869	0.87[EUR][1000 genomes]
rs2051871	0.87[EUR][1000 genomes]
rs255012	0.80[EUR][1000 genomes]
rs255015	0.81[EUR][1000 genomes]
rs255017	0.83[EUR][1000 genomes]
rs34965184	0.87[EUR][1000 genomes]
rs6951425	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs6955027	0.87[EUR][1000 genomes]
rs7782143	0.84[EUR][1000 genomes]
rs7796964	0.84[ASN][1000 genomes]
rs985821	0.88[ASN][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	nsv887989	chr7:41125447-41337044	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1028983	chr7:41165668-41635954	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv534465	chr7:41224437-41443498	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	esv3411047	chr7:41278282-41278812	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12701874	CEP78	trans	parietal	SCAN
rs12701874	AEBP1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:41265000-41296600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:41277200-41279200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr7:41277200-41279200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr7:41277200-41279200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr7:41277200-41279400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:41277200-41279400	Enhancers	Hela-S3	cervix
7	chr7:41277200-41279400	Enhancers	NHDF-Ad	bronchial
8	chr7:41277400-41279200	Enhancers	NHEK	skin
9	chr7:41277400-41279400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:41277400-41279600	Enhancers	Muscle Satellite Cultured Cells	--
11	chr7:41277400-41279600	Enhancers	HMEC	breast
12	chr7:41277400-41279600	Enhancers	Osteobl	bone
13	chr7:41277600-41279200	Enhancers	NHLF	lung
14	chr7:41277600-41279400	Enhancers	HUVEC	blood vessel
15	chr7:41278000-41279200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:41278000-41279200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr7:41278400-41279600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr7:41278400-41279600	Enhancers	HSMM	muscle
19	chr7:41278600-41279400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:41278600-41280200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr7:41278600-41283800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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