Variant report

Variant	rs12232098
Chromosome Location	chr14:37445277-37445278
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:37129067..37129872-chr14:37444869..37445608,2	MCF-7	breast:
2	chr14:37444902..37446852-chr14:37452169..37454015,2	K562	blood:
3	chr14:37443180..37446784-chr14:37583565..37587987,4	MCF-7	breast:
4	chr14:37433056..37435184-chr14:37444871..37446376,2	K562	blood:
5	chr14:37124823..37125996-chr14:37445069..37445745,4	MCF-7	breast:
6	chr14:37116999..37117734-chr14:37444738..37445386,2	MCF-7	breast:
7	chr14:37437101..37441140-chr14:37443447..37445608,5	K562	blood:
8	chr14:37433684..37436348-chr14:37444876..37447340,3	K562	blood:
9	chr14:37022993..37023661-chr14:37444996..37445601,2	MCF-7	breast:
10	chr14:37116932..37117799-chr14:37444845..37445764,5	MCF-7	breast:
11	chr14:37129523..37131229-chr14:37444230..37445740,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000198807	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10129152	1.00[EUR][1000 genomes]
rs10133673	1.00[TSI][hapmap]
rs10151092	1.00[EUR][1000 genomes]
rs10459480	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10483482	1.00[TSI][hapmap]
rs10483485	1.00[TSI][hapmap]
rs11156929	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.93[ASN][1000 genomes]
rs11156930	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11848329	0.91[ASN][1000 genomes]
rs11848565	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs12590281	0.88[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.91[ASN][1000 genomes]
rs17106290	1.00[TSI][hapmap]
rs1884221	1.00[TSI][hapmap]
rs1950375	1.00[EUR][1000 genomes]
rs1955763	1.00[EUR][1000 genomes]
rs1971451	1.00[EUR][1000 genomes]
rs2078246	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2415388	1.00[EUR][1000 genomes]
rs56918913	0.90[ASN][1000 genomes]
rs59035643	0.91[ASN][1000 genomes]
rs6571789	1.00[EUR][1000 genomes]
rs7147037	0.93[ASN][1000 genomes]
rs7160129	1.00[EUR][1000 genomes]
rs72645005	1.00[EUR][1000 genomes]
rs73254296	0.90[ASN][1000 genomes]
rs73254298	0.90[ASN][1000 genomes]
rs73256205	0.91[ASN][1000 genomes]
rs73256211	0.91[ASN][1000 genomes]
rs73256216	0.91[ASN][1000 genomes]
rs73256218	0.91[ASN][1000 genomes]
rs73256222	0.91[ASN][1000 genomes]
rs73256229	1.00[ASN][1000 genomes]
rs8008478	1.00[TSI][hapmap]

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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:37440600-37445400	Enhancers	K562	blood
2	chr14:37441600-37446200	Enhancers	NHLF	lung
3	chr14:37441800-37446200	Enhancers	Stomach Mucosa	stomach
4	chr14:37442400-37446200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr14:37442600-37445800	Weak transcription	Aorta	Aorta
6	chr14:37442800-37445800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr14:37442800-37445800	Weak transcription	Gastric	stomach
8	chr14:37442800-37445800	Enhancers	Hela-S3	cervix
9	chr14:37443000-37446200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr14:37443400-37451200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr14:37443600-37445400	Weak transcription	NHDF-Ad	bronchial
12	chr14:37443600-37445600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr14:37443800-37445400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr14:37443800-37445400	Weak transcription	HSMM	muscle
15	chr14:37443800-37445600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr14:37443800-37445800	Weak transcription	Osteobl	bone
17	chr14:37444000-37445400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr14:37444400-37445400	Weak transcription	HMEC	breast
19	chr14:37444800-37446200	Enhancers	Esophagus	oesophagus
20	chr14:37445000-37446000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr14:37445000-37446000	Enhancers	Fetal Heart	heart
22	chr14:37445000-37446000	Flanking Active TSS	A549	lung
23	chr14:37445000-37446200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr14:37445000-37446200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr14:37445200-37445600	Weak transcription	HSMMtube	muscle
26	chr14:37445200-37445800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr14:37445200-37446200	Enhancers	HepG2	liver
28	chr14:37445200-37446200	Enhancers	NHEK	skin

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