Variant report

Variant	rs71423318
Chromosome Location	chr14:69005887-69005888
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:

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	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10483813	0.91[AMR][1000 genomes]
rs11621276	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11624097	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11624164	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11624333	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11628293	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11844632	0.95[ASN][1000 genomes]
rs12889251	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[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];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17756000	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17756147	0.91[AMR][1000 genomes]
rs17828907	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17828955	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2158357	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34636650	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34882439	0.95[ASN][1000 genomes]
rs36028293	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71423314	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71423316	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71423317	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	0.91[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:69 , 50 per page) page: 1 2

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	chr14:69002600-69006600	Weak transcription	Ovary	ovary
4	chr14:69002800-69006000	Weak transcription	Esophagus	oesophagus
5	chr14:69002800-69006000	Weak transcription	Placenta	Placenta
6	chr14:69002800-69006200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr14:69003000-69006200	Weak transcription	HSMMtube	muscle
8	chr14:69003000-69006400	Weak transcription	HSMM	muscle
9	chr14:69003000-69007800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr14:69003000-69007800	Weak transcription	Hela-S3	cervix
11	chr14:69003000-69008000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr14:69003000-69009000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr14:69003200-69006000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr14:69003200-69009000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr14:69003400-69006000	Weak transcription	NHDF-Ad	bronchial
16	chr14:69003400-69006000	Weak transcription	NHLF	lung
17	chr14:69003600-69007800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr14:69003600-69008000	Weak transcription	HMEC	breast
19	chr14:69003600-69009000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr14:69003600-69009000	Weak transcription	NHEK	skin
21	chr14:69004400-69008600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr14:69004600-69006800	Enhancers	Rectal Smooth Muscle	rectum
23	chr14:69004600-69008400	Enhancers	Brain Germinal Matrix	brain
24	chr14:69004600-69009800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr14:69004600-69010600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr14:69004800-69006800	Enhancers	Fetal Muscle Trunk	muscle
27	chr14:69004800-69006800	Enhancers	Spleen	Spleen
28	chr14:69004800-69007000	Enhancers	Left Ventricle	heart
29	chr14:69004800-69007000	Enhancers	Stomach Smooth Muscle	stomach
30	chr14:69004800-69007400	Enhancers	Psoas Muscle	Psoas
31	chr14:69004800-69008200	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr14:69004800-69008600	Enhancers	Fetal Muscle Leg	muscle
33	chr14:69005000-69007800	Enhancers	Brain Anterior Caudate	brain
34	chr14:69005000-69008400	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr14:69005000-69008800	Enhancers	Colon Smooth Muscle	Colon
36	chr14:69005000-69008800	Enhancers	Fetal Stomach	stomach
37	chr14:69005000-69010400	Weak transcription	Pancreas	Pancrea
38	chr14:69005000-69013400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr14:69005000-69015000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr14:69005200-69006600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:69005400-69006200	Enhancers	Lung	lung
42	chr14:69005400-69006400	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr14:69005400-69006400	Enhancers	Fetal Intestine Large	intestine
44	chr14:69005400-69006400	Enhancers	Fetal Intestine Small	intestine
45	chr14:69005400-69006600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr14:69005400-69006600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr14:69005400-69006600	Enhancers	HepG2	liver
48	chr14:69005400-69006800	Enhancers	Brain Substantia Nigra	brain
49	chr14:69005400-69006800	Enhancers	Fetal Lung	lung
50	chr14:69005400-69007200	Enhancers	Right Ventricle	heart

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