Variant report

Variant	rs59382480
Chromosome Location	chr14:69366292-69366293
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69364211..69367426-chr14:69367828..69370926,4	K562	blood:
2	chr14:69363316..69366720-chr14:69444431..69447515,3	MCF-7	breast:
3	chr14:69358005..69360954-chr14:69365847..69368420,3	MCF-7	breast:
4	chr14:69361702..69363258-chr14:69365131..69367429,2	K562	blood:
5	chr14:69360053..69363258-chr14:69363316..69367429,3	K562	blood:

Variant related genes	Relation type
ENSG00000259062	Chromatin interaction
ENSG00000072110	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11158771	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158772	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158773	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158774	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11620768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11621414	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11621869	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11623410	1.00[ASN][1000 genomes]
rs11625353	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11625822	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11626631	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11626859	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11628692	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12185057	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4899267	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57653482	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58940034	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59072646	1.00[ASN][1000 genomes]
rs61985075	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61985076	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61985077	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61985078	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61985079	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61985080	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61985081	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61985082	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61985083	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72733522	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3367176	chr14:69364199-69367597	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69336400-69378200	Strong transcription	Primary T cells from cord blood	blood
2	chr14:69337400-69404400	Weak transcription	Fetal Brain Male	brain
3	chr14:69337800-69379200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:69337800-69380600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr14:69338000-69378800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr14:69338200-69375000	Strong transcription	Placenta Amnion	Placenta Amnion
7	chr14:69338200-69378200	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr14:69338400-69377800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr14:69338600-69370600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr14:69339200-69394600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr14:69340800-69366800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr14:69341800-69366400	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr14:69341800-69378400	Strong transcription	Fetal Intestine Small	intestine
14	chr14:69341800-69380400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr14:69342000-69378200	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr14:69342200-69378200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr14:69345800-69394800	Weak transcription	Small Intestine	intestine
18	chr14:69346800-69379800	Strong transcription	Fetal Intestine Large	intestine
19	chr14:69348200-69389200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr14:69348600-69375200	Weak transcription	K562	blood
21	chr14:69353000-69371600	Weak transcription	Brain Hippocampus Middle	brain
22	chr14:69354000-69393200	Strong transcription	NHEK	skin
23	chr14:69354400-69378600	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr14:69354600-69371800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr14:69354600-69379000	Strong transcription	H1 Cell Line	embryonic stem cell
26	chr14:69354600-69379000	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr14:69354600-69393000	Strong transcription	Dnd41	blood
28	chr14:69355800-69366400	Strong transcription	Liver	Liver
29	chr14:69355800-69378200	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr14:69357000-69371800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr14:69357000-69375400	Weak transcription	Brain Substantia Nigra	brain
32	chr14:69357800-69373400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr14:69358200-69379200	Strong transcription	HepG2	liver
34	chr14:69360400-69366600	Weak transcription	Fetal Brain Female	brain
35	chr14:69360400-69378600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr14:69360600-69388800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr14:69360800-69366800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr14:69360800-69367000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr14:69360800-69368600	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr14:69361200-69366800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr14:69361200-69375200	Weak transcription	Brain Germinal Matrix	brain
42	chr14:69361400-69366800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr14:69361600-69378200	Strong transcription	Adipose Nuclei	Adipose
44	chr14:69361600-69378600	Weak transcription	Fetal Heart	heart
45	chr14:69362000-69378600	Weak transcription	Right Atrium	heart
46	chr14:69362000-69378800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
47	chr14:69362000-69380400	Strong transcription	NHDF-Ad	bronchial
48	chr14:69362200-69377400	Strong transcription	Aorta	Aorta
49	chr14:69362400-69366600	Strong transcription	NHLF	lung
50	chr14:69362600-69378600	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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