Variant report

Variant	rs61394862
Chromosome Location	chr5:14851094-14851095
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:14850589..14853387-chr5:14861534..14863865,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1004673	0.98[ASN][1000 genomes]
rs13175317	0.97[ASN][1000 genomes]
rs1374080	0.99[ASN][1000 genomes]
rs1550826	0.98[ASN][1000 genomes]
rs17251763	0.84[EUR][1000 genomes]
rs17266101	1.00[ASN][1000 genomes]
rs17318936	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2401985	0.99[ASN][1000 genomes]
rs258221	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs258223	0.88[ASN][1000 genomes]
rs258229	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs31908	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs31916	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs31918	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs33101	0.98[ASN][1000 genomes]
rs35554212	0.99[ASN][1000 genomes]
rs35842463	0.99[ASN][1000 genomes]
rs368503	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs398961	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4569871	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4702056	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55954907	0.98[ASN][1000 genomes]
rs61169618	1.00[ASN][1000 genomes]
rs6884206	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7715323	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv948447	chr5:14771247-14852610	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830212	chr5:14784197-14966683	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
4	esv2753381	chr5:14814900-14882800	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	esv2755533	chr5:14814900-14882800	Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
6	esv2755538	chr5:14814900-14927500	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14811600-14861200	Weak transcription	Colonic Mucosa	Colon
2	chr5:14820600-14854800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr5:14820800-14851800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr5:14824800-14869600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr5:14827800-14854600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr5:14828800-14856200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr5:14830400-14852200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr5:14830400-14866400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr5:14831000-14870400	Weak transcription	Spleen	Spleen
10	chr5:14835600-14869000	Weak transcription	NHDF-Ad	bronchial
11	chr5:14835800-14851400	Weak transcription	Primary B cells from peripheral blood	blood
12	chr5:14835800-14864200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr5:14837400-14869400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr5:14838200-14852200	Weak transcription	Small Intestine	intestine
15	chr5:14839200-14859800	Weak transcription	Aorta	Aorta
16	chr5:14840200-14864600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:14841200-14852200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr5:14844800-14869200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr5:14845400-14852200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr5:14845800-14851800	Strong transcription	Primary T cells from cord blood	blood
21	chr5:14848400-14853400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr5:14848600-14851400	Enhancers	HMEC	breast
23	chr5:14848600-14852000	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr5:14848800-14851200	Enhancers	NHEK	skin
25	chr5:14848800-14851600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr5:14848800-14851600	Enhancers	Placenta Amnion	Placenta Amnion
27	chr5:14848800-14861800	Weak transcription	Adipose Nuclei	Adipose
28	chr5:14848800-14870000	Weak transcription	Thymus	Thymus
29	chr5:14849000-14851800	Enhancers	Placenta	Placenta
30	chr5:14849000-14852200	Enhancers	Fetal Heart	heart
31	chr5:14849000-14855000	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr5:14849200-14851400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr5:14849200-14851600	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr5:14849200-14851600	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr5:14849200-14869800	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr5:14849400-14851400	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr5:14849400-14851400	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr5:14849400-14851400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr5:14849400-14851400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr5:14849400-14851600	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr5:14849400-14851600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr5:14849400-14851600	Enhancers	Fetal Brain Female	brain
43	chr5:14849400-14852400	Enhancers	Brain Hippocampus Middle	brain
44	chr5:14849600-14851400	Enhancers	H1 Cell Line	embryonic stem cell
45	chr5:14849600-14851600	Enhancers	H9 Cell Line	embryonic stem cell
46	chr5:14849600-14851600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr5:14849600-14851800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr5:14849600-14851800	Enhancers	Brain Substantia Nigra	brain
49	chr5:14849800-14851400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chr5:14849800-14851400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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