Variant report

Variant	rs71423317
Chromosome Location	chr14:69004126-69004127
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:69003922..69007873-chr14:69256897..69260047,3	MCF-7	breast:
2	chr14:69001801..69004663-chr14:69006865..69008433,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10483812	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10483813	0.88[AMR][1000 genomes]
rs11621276	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11624097	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11624164	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11624333	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11628293	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11844632	0.95[ASN][1000 genomes]
rs12889251	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17105780	0.95[ASN][1000 genomes]
rs17105847	0.89[ASN][1000 genomes]
rs17755925	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17756000	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17756147	0.88[AMR][1000 genomes]
rs17828907	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17828955	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2158357	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34636650	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34882439	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs36028293	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71423314	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71423316	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71423318	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs739874	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs999737	0.88[AMR][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	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv832822	chr14:68874640-69060272	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1048064	chr14:68991041-69012766	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr14:68996200-69007800	Weak transcription	Stomach Mucosa	stomach
2	chr14:69002400-69016600	Weak transcription	Gastric	stomach
3	chr14:69002600-69004800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:69002600-69006600	Weak transcription	Ovary	ovary
5	chr14:69002800-69005600	Weak transcription	A549	lung
6	chr14:69002800-69006000	Weak transcription	Esophagus	oesophagus
7	chr14:69002800-69006000	Weak transcription	Placenta	Placenta
8	chr14:69002800-69006200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr14:69003000-69004800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr14:69003000-69005400	Weak transcription	Fetal Intestine Small	intestine
11	chr14:69003000-69006200	Weak transcription	HSMMtube	muscle
12	chr14:69003000-69006400	Weak transcription	HSMM	muscle
13	chr14:69003000-69007800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr14:69003000-69007800	Weak transcription	Hela-S3	cervix
15	chr14:69003000-69008000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr14:69003000-69009000	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr14:69003200-69004800	Weak transcription	Fetal Muscle Leg	muscle
18	chr14:69003200-69005400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr14:69003200-69005800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr14:69003200-69006000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr14:69003200-69009000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr14:69003400-69004800	Weak transcription	Psoas Muscle	Psoas
23	chr14:69003400-69006000	Weak transcription	NHDF-Ad	bronchial
24	chr14:69003400-69006000	Weak transcription	NHLF	lung
25	chr14:69003600-69007800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr14:69003600-69008000	Weak transcription	HMEC	breast
27	chr14:69003600-69009000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr14:69003600-69009000	Weak transcription	NHEK	skin

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