Variant report

Variant	rs1956418
Chromosome Location	chr14:65138566-65138567
allele	C/T
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:65135349..65138709-chr14:65145103..65149484,4	MCF-7	breast:
2	chr14:65137982..65138853-chr14:65229263..65230220,2	MCF-7	breast:
3	chr14:64973577..64975906-chr14:65136944..65139422,2	MCF-7	breast:
4	chr14:65128230..65131121-chr14:65136317..65138576,2	K562	blood:
5	chr14:65137892..65138874-chr14:65266647..65267635,2	MCF-7	breast:
6	chr14:65138116..65138837-chr14:65266518..65267321,3	MCF-7	breast:
7	chr14:65138393..65141206-chr14:65169744..65173083,3	MCF-7	breast:
8	chr14:65138142..65139183-chr14:65231179..65232405,5	MCF-7	breast:
9	chr14:65137874..65140791-chr14:65142432..65144848,2	K562	blood:
10	chr14:65137937..65138882-chr14:65212182..65213063,6	MCF-7	breast:
11	chr14:64969252..64972831-chr14:65136872..65138614,3	K562	blood:
12	chr14:65137759..65138752-chr14:65228203..65228779,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000126804	Chromatin interaction
ENSG00000089775	Chromatin interaction
ENSG00000126822	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11848238	0.80[ASN][1000 genomes]
rs12894022	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1956419	0.81[ASN][1000 genomes]
rs2016351	0.86[ASN][1000 genomes]
rs4899141	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7142258	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs8007886	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8015571	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs910998	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs911000	0.82[AMR][1000 genomes];0.94[ASN][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	nsv1049097	chr14:65027753-65202018	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv3443734	chr14:65137049-65139247	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65127600-65139800	Weak transcription	Esophagus	oesophagus
2	chr14:65130400-65138600	Weak transcription	HMEC	breast
3	chr14:65130400-65139800	Weak transcription	Fetal Muscle Leg	muscle
4	chr14:65130600-65139600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr14:65133400-65139800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:65134000-65140200	Weak transcription	Duodenum Mucosa	Duodenum
7	chr14:65135400-65149200	Weak transcription	Aorta	Aorta
8	chr14:65136200-65138600	Weak transcription	A549	lung
9	chr14:65137200-65139000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr14:65138200-65138800	Enhancers	Fetal Intestine Small	intestine
11	chr14:65138200-65138800	Enhancers	Fetal Kidney	kidney
12	chr14:65138400-65138600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr14:65138400-65138600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr14:65138400-65138600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr14:65138400-65138600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr14:65138400-65138600	Enhancers	Placenta	Placenta
17	chr14:65138400-65138600	Enhancers	Placenta Amnion	Placenta Amnion
18	chr14:65138400-65138600	Enhancers	Stomach Mucosa	stomach
19	chr14:65138400-65138600	Enhancers	Hela-S3	cervix
20	chr14:65138400-65138800	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr14:65138400-65138800	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr14:65138400-65138800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr14:65138400-65138800	Enhancers	Adipose Nuclei	Adipose
24	chr14:65138400-65138800	Enhancers	Liver	Liver
25	chr14:65138400-65138800	Enhancers	Brain Angular Gyrus	brain
26	chr14:65138400-65138800	Enhancers	Brain Cingulate Gyrus	brain
27	chr14:65138400-65138800	Enhancers	Brain Hippocampus Middle	brain
28	chr14:65138400-65138800	Enhancers	Brain Substantia Nigra	brain
29	chr14:65138400-65138800	Enhancers	Fetal Intestine Large	intestine
30	chr14:65138400-65138800	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr14:65138400-65138800	Enhancers	HepG2	liver
32	chr14:65138400-65139000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr14:65138400-65139000	Enhancers	Primary B cells from cord blood	blood
34	chr14:65138400-65139800	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr14:65138400-65140200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr14:65138400-65140200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr14:65138400-65140800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr14:65138400-65141000	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr14:65138400-65141200	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr14:65138400-65141400	Enhancers	Primary T cells from cord blood	blood
41	chr14:65138400-65141400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr14:65138400-65141400	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr14:65138400-65141600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr14:65138400-65144000	Enhancers	Primary monocytes fromperipheralblood	blood

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