Variant report

Variant	rs62344984
Chromosome Location	chr5:14364507-14364508
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: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	chr5:14108355..14109318-chr5:14364127..14365377,3	MCF-7	breast:
2	chr5:14364046..14364977-chr5:14648428..14649312,3	K562	blood:
3	chr5:13987602..13988665-chr5:14364076..14365356,10	MCF-7	breast:
4	chr5:14184247..14187128-chr5:14363897..14366486,2	K562	blood:
5	chr5:13988092..13988625-chr5:14364308..14364829,2	K562	blood:
6	chr5:13976721..13977644-chr5:14363896..14365235,4	MCF-7	breast:
7	chr5:14350928..14352625-chr5:14364251..14366443,2	MCF-7	breast:
8	chr5:13976748..13978015-chr5:14364438..14365585,5	MCF-7	breast:
9	chr5:13987661..13988617-chr5:14364257..14365519,6	MCF-7	breast:
10	chr5:14351898..14352910-chr5:14363799..14364841,4	MCF-7	breast:
11	chr5:14363978..14364976-chr5:14648837..14649345,2	MCF-7	breast:
12	chr5:14364227..14364864-chr5:15003325..15004131,2	K562	blood:

No data

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11959397	0.88[EUR][1000 genomes]
rs12109880	0.88[EUR][1000 genomes]
rs12110267	0.88[EUR][1000 genomes]
rs16903421	0.88[EUR][1000 genomes]
rs16903423	0.88[EUR][1000 genomes]
rs16903428	0.88[EUR][1000 genomes]
rs16903509	0.83[EUR][1000 genomes]
rs28416767	0.83[EUR][1000 genomes]
rs28482202	0.83[EUR][1000 genomes]
rs28548493	0.83[EUR][1000 genomes]
rs57017859	0.88[EUR][1000 genomes]
rs58260094	0.83[EUR][1000 genomes]
rs60738268	0.88[EUR][1000 genomes]
rs60892841	0.83[EUR][1000 genomes]
rs61059406	0.88[EUR][1000 genomes]
rs61469842	0.84[EUR][1000 genomes]
rs62344979	0.88[EUR][1000 genomes]
rs62344981	0.86[EUR][1000 genomes]
rs62344983	0.88[EUR][1000 genomes]
rs62345009	0.84[EUR][1000 genomes]
rs62345048	0.83[EUR][1000 genomes]
rs66554336	0.88[EUR][1000 genomes]
rs730185	1.00[EUR][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	nsv948355	chr5:14160447-14395478	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv830210	chr5:14255039-14431552	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14342800-14365200	Weak transcription	Small Intestine	intestine
2	chr5:14350400-14373800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:14351600-14399400	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr5:14353600-14366200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:14353600-14385200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:14353600-14398800	Strong transcription	Rectal Mucosa Donor 29	rectum
7	chr5:14354400-14374800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:14354600-14402400	Strong transcription	Liver	Liver
9	chr5:14355000-14392400	Strong transcription	HSMMtube	muscle
10	chr5:14355000-14398800	Strong transcription	Rectal Mucosa Donor 31	rectum
11	chr5:14355400-14365200	Strong transcription	HSMM	muscle
12	chr5:14355600-14375000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:14356000-14366200	Strong transcription	Muscle Satellite Cultured Cells	--
14	chr5:14356400-14365400	Strong transcription	NHEK	skin
15	chr5:14356400-14373800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr5:14356600-14365200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr5:14356800-14370200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr5:14356800-14376000	Strong transcription	HepG2	liver
19	chr5:14357000-14370400	Strong transcription	Fetal Intestine Small	intestine
20	chr5:14357000-14371200	Strong transcription	Sigmoid Colon	Sigmoid Colon
21	chr5:14357000-14374000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr5:14357000-14376400	Strong transcription	NHLF	lung
23	chr5:14357000-14376600	Strong transcription	Duodenum Mucosa	Duodenum
24	chr5:14357600-14365200	Strong transcription	Primary B cells from peripheral blood	blood
25	chr5:14357600-14422000	Weak transcription	Stomach Mucosa	stomach
26	chr5:14357800-14385000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:14357800-14389800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr5:14358000-14373800	Strong transcription	Placenta Amnion	Placenta Amnion
29	chr5:14358000-14377000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr5:14358000-14385800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr5:14358000-14389800	Strong transcription	Adipose Nuclei	Adipose
32	chr5:14358200-14366000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr5:14358200-14366000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr5:14358200-14375800	Strong transcription	Stomach Smooth Muscle	stomach
35	chr5:14358200-14391600	Strong transcription	Primary B cells from cord blood	blood
36	chr5:14358400-14364800	Strong transcription	GM12878-XiMat	blood
37	chr5:14358400-14365000	Strong transcription	NH-A	brain
38	chr5:14358400-14366400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr5:14358400-14371200	Strong transcription	Fetal Brain Female	brain
40	chr5:14358400-14374200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr5:14358400-14374600	Strong transcription	Fetal Stomach	stomach
42	chr5:14358400-14385600	Strong transcription	Fetal Intestine Large	intestine
43	chr5:14358400-14392000	Strong transcription	Fetal Muscle Leg	muscle
44	chr5:14358600-14373600	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr5:14358600-14374000	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr5:14358600-14392600	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr5:14358800-14373200	Strong transcription	NHDF-Ad	bronchial
48	chr5:14358800-14375600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr5:14359000-14365400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr5:14359600-14365200	Weak transcription	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links