Variant report

Variant	rs229175
Chromosome Location	chr14:31026322-31026323
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31025231..31028884-chr14:31089510..31093231,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000092108	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10147257	0.80[CEU][hapmap]
rs1123860	0.80[CEU][hapmap]
rs11626600	0.95[CEU][hapmap];0.87[JPT][hapmap];0.93[EUR][1000 genomes]
rs11846071	0.90[ASN][1000 genomes]
rs11846408	0.80[CEU][hapmap]
rs12881161	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12894186	0.80[CEU][hapmap]
rs17097023	0.80[CEU][hapmap]
rs1840399	0.87[EUR][1000 genomes]
rs2273521	0.80[CEU][hapmap]
rs229168	0.86[EUR][1000 genomes]
rs229244	0.94[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2378780	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs28567474	0.89[EUR][1000 genomes]
rs447853	0.94[CEU][hapmap];0.83[EUR][1000 genomes]
rs7141333	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7156431	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs761956	0.80[CEU][hapmap]
rs8015536	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs8018993	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8020220	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9322864	0.95[CEU][hapmap]

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	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1036419	chr14:30969616-31224226	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31014600-31027800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:31021000-31027600	Weak transcription	Colon Smooth Muscle	Colon
3	chr14:31021200-31027600	Weak transcription	Fetal Lung	lung
4	chr14:31021200-31027800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr14:31021600-31028000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:31023200-31027400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr14:31023200-31027400	Weak transcription	A549	lung
8	chr14:31023200-31027800	Weak transcription	HSMMtube	muscle
9	chr14:31023400-31027400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr14:31023400-31027400	Weak transcription	NHDF-Ad	bronchial
11	chr14:31023400-31027400	Weak transcription	NHEK	skin
12	chr14:31023400-31027400	Weak transcription	Osteobl	bone
13	chr14:31023400-31027600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr14:31023400-31027600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr14:31023400-31027600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr14:31023400-31027600	Weak transcription	NH-A	brain
17	chr14:31023400-31027600	Weak transcription	NHLF	lung
18	chr14:31023400-31027800	Weak transcription	HSMM	muscle
19	chr14:31023600-31027400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr14:31023600-31027400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr14:31023600-31027400	Weak transcription	HMEC	breast
22	chr14:31023600-31027600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr14:31024000-31027800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr14:31025600-31027400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr14:31025800-31026600	Enhancers	HepG2	liver

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