Variant report

Variant	rs10130430
Chromosome Location	chr14:37448518-37448519
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	chr14:37130517..37132162-chr14:37446527..37449439,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198807	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10129948	1.00[ASN][1000 genomes]
rs10131507	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10132205	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10137636	0.87[EUR][1000 genomes]
rs10141660	1.00[ASN][1000 genomes]
rs10148776	0.86[EUR][1000 genomes]
rs11850139	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12050275	0.94[CEU][hapmap];0.88[EUR][1000 genomes]
rs17105840	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17105858	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17105860	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17105883	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17105951	0.89[CHB][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs2022584	0.94[CEU][hapmap];0.88[EUR][1000 genomes]
rs2022585	0.94[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs2022727	0.94[CEU][hapmap];0.88[EUR][1000 genomes]
rs2022730	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2056355	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2139746	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2145131	1.00[ASN][1000 genomes]
rs2180599	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28414995	0.98[ASN][1000 genomes]
rs28540719	0.82[ASN][1000 genomes]
rs61989484	0.90[ASN][1000 genomes]
rs6571771	0.94[CEU][hapmap];0.80[EUR][1000 genomes]
rs6571772	0.94[CEU][hapmap];0.80[EUR][1000 genomes]
rs7142715	0.99[ASN][1000 genomes]
rs7143069	1.00[ASN][1000 genomes]
rs7147216	1.00[ASN][1000 genomes]
rs7156230	0.82[ASN][1000 genomes]
rs751202	0.89[CHB][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs8013390	0.82[EUR][1000 genomes]
rs8019355	0.87[EUR][1000 genomes]
rs8021342	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs909015	1.00[CHB][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs911008	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs925999	1.00[CHB][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs9805891	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534288	chr14:37254539-37697745	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 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	chr14:37443400-37451200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr14:37446000-37451200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr14:37446200-37448800	Weak transcription	HepG2	liver
4	chr14:37446200-37451000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr14:37446200-37451000	Weak transcription	HMEC	breast
6	chr14:37446200-37451000	Weak transcription	NHDF-Ad	bronchial
7	chr14:37446200-37451000	Weak transcription	NHEK	skin
8	chr14:37446200-37451200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr14:37446200-37451200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr14:37446200-37451200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr14:37446200-37451200	Weak transcription	Stomach Mucosa	stomach
12	chr14:37446200-37451200	Weak transcription	HSMM	muscle
13	chr14:37446200-37451200	Weak transcription	HSMMtube	muscle
14	chr14:37446200-37451200	Weak transcription	NHLF	lung
15	chr14:37446200-37451200	Weak transcription	Osteobl	bone
16	chr14:37446200-37451600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr14:37446200-37451600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr14:37446200-37465800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr14:37446800-37449000	Weak transcription	A549	lung
20	chr14:37446800-37451200	Weak transcription	Hela-S3	cervix
21	chr14:37448400-37449600	Weak transcription	K562	blood

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