Variant report

Variant	rs71423314
Chromosome Location	chr14:68988664-68988665
allele	C/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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68987315..68991799-chr14:69260586..69263580,4	MCF-7	breast:
2	chr14:68987945..68990054-chr14:69256265..69258899,2	MCF-7	breast:
3	chr14:68924187..68928322-chr14:68988163..68990816,4	MCF-7	breast:
4	chr14:68938741..68940567-chr14:68984751..68988855,3	MCF-7	breast:
5	chr14:68933801..68936110-chr14:68987785..68990032,2	MCF-7	breast:
6	chr14:68988156..68989952-chr14:69256849..69258370,2	MCF-7	breast:
7	chr14:68927072..68929537-chr14:68988559..68991128,2	MCF-7	breast:
8	chr14:68929507..68933385-chr14:68987583..68991137,3	MCF-7	breast:
9	chr14:68987292..68989067-chr14:68991224..68994887,5	MCF-7	breast:
10	chr14:68986084..68990937-chr14:69249749..69255560,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction
ENSG00000182185	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10483812	0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10483813	0.85[AMR][1000 genomes]
rs11621276	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11624097	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11624164	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11624333	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11628293	0.87[AMR][1000 genomes]
rs11844632	0.90[ASN][1000 genomes]
rs12889251	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17105780	0.89[ASN][1000 genomes]
rs17105847	0.84[ASN][1000 genomes]
rs17755925	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17756000	0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17756147	0.85[AMR][1000 genomes]
rs17828907	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17828955	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2158357	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34636650	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34882439	0.90[ASN][1000 genomes]
rs36028293	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71423316	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71423317	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71423318	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs739874	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs999737	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68968000-68991200	Enhancers	Fetal Lung	lung
2	chr14:68983600-68991200	Enhancers	NHEK	skin
3	chr14:68983800-68991600	Enhancers	Fetal Muscle Leg	muscle
4	chr14:68983800-68991800	Enhancers	Fetal Stomach	stomach
5	chr14:68984200-68990200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr14:68984200-68991200	Enhancers	Fetal Heart	heart
7	chr14:68984200-68991800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr14:68984600-68989600	Enhancers	Stomach Mucosa	stomach
9	chr14:68984600-68989800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr14:68984600-68990200	Enhancers	Primary B cells from peripheral blood	blood
11	chr14:68984600-68990200	Enhancers	Fetal Intestine Large	intestine
12	chr14:68984600-68990600	Enhancers	Fetal Intestine Small	intestine
13	chr14:68984600-68991400	Enhancers	Placenta Amnion	Placenta Amnion
14	chr14:68984600-68991600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr14:68984600-68991800	Enhancers	Placenta	Placenta
16	chr14:68984800-68989600	Enhancers	HMEC	breast
17	chr14:68984800-68989800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr14:68985000-68988800	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr14:68985200-68989000	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr14:68985200-68989400	Weak transcription	Spleen	Spleen
21	chr14:68985400-68989800	Enhancers	HSMMtube	muscle
22	chr14:68985800-68994800	Weak transcription	Aorta	Aorta
23	chr14:68986000-68989000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr14:68986000-68991800	Enhancers	Rectal Smooth Muscle	rectum
25	chr14:68986000-68993400	Weak transcription	Brain Angular Gyrus	brain
26	chr14:68986200-68989400	Weak transcription	Brain Hippocampus Middle	brain
27	chr14:68986400-68988800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr14:68986400-68988800	Weak transcription	Brain Substantia Nigra	brain
29	chr14:68986400-68988800	Weak transcription	Left Ventricle	heart
30	chr14:68986400-68988800	Weak transcription	Osteobl	bone
31	chr14:68986400-68989400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr14:68986400-68989600	Weak transcription	Small Intestine	intestine
33	chr14:68986400-68990000	Weak transcription	Brain Cingulate Gyrus	brain
34	chr14:68986400-68991600	Enhancers	Colon Smooth Muscle	Colon
35	chr14:68986400-68993000	Weak transcription	NH-A	brain
36	chr14:68986600-68988800	Enhancers	Stomach Smooth Muscle	stomach
37	chr14:68987000-68989400	Weak transcription	Primary B cells from cord blood	blood
38	chr14:68987000-68991600	Weak transcription	Thymus	Thymus
39	chr14:68987200-68990200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr14:68987400-68988800	Enhancers	Hela-S3	cervix
41	chr14:68987400-68989600	Weak transcription	Primary T cells from cord blood	blood
42	chr14:68987400-68990000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
43	chr14:68987400-68990000	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr14:68987400-68990000	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr14:68987400-68991800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr14:68987400-68993600	Enhancers	HSMM	muscle
47	chr14:68987400-68996200	Enhancers	Pancreas	Pancrea
48	chr14:68987600-68989200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr14:68987600-68990000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr14:68987600-68990400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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