Variant report

Variant	rs11844318
Chromosome Location	chr14:64980516-64980517
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	chr14:64979365..64981317-chr14:65073595..65075392,2	K562	blood:
2	chr14:64980297..64983201-chr14:65006047..65009570,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259116	Chromatin interaction
ENSG00000126803	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10498514	0.94[EUR][1000 genomes]
rs11848452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11849167	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11850644	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11851751	0.83[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17101851	0.94[EUR][1000 genomes]
rs17101854	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17101915	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17101919	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17751805	1.00[ASN][1000 genomes]
rs2123464	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2295638	0.94[EUR][1000 genomes]
rs2295639	0.94[EUR][1000 genomes]
rs35062852	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45472695	1.00[EUR][1000 genomes]
rs45498699	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45523434	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45608633	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57092929	0.83[EUR][1000 genomes]
rs59096477	0.94[EUR][1000 genomes]
rs59397130	0.94[EUR][1000 genomes]
rs59403712	0.94[EUR][1000 genomes]
rs59422037	0.94[EUR][1000 genomes]
rs59686564	0.94[EUR][1000 genomes]
rs59770063	0.94[EUR][1000 genomes]
rs60063929	0.94[EUR][1000 genomes]
rs60806768	0.94[EUR][1000 genomes]
rs61107070	0.94[EUR][1000 genomes]
rs61288516	1.00[ASN][1000 genomes]
rs61290360	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73263767	0.94[EUR][1000 genomes]
rs73263770	0.94[EUR][1000 genomes]
rs73263773	0.94[EUR][1000 genomes]
rs73263781	0.94[EUR][1000 genomes]
rs73263782	0.94[EUR][1000 genomes]
rs73277968	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73277970	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73277972	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73277975	0.94[EUR][1000 genomes]
rs73277976	0.94[EUR][1000 genomes]
rs73277977	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73277979	0.94[EUR][1000 genomes]
rs73277985	0.94[EUR][1000 genomes]
rs8019215	0.94[EUR][1000 genomes]
rs8022867	0.94[EUR][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	nsv521823	chr14:64969342-64995694	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64972800-64988400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr14:64972800-64991600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:64973200-64987800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr14:64974000-64984400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr14:64974400-64988200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr14:64974400-64988400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr14:64974800-64988600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr14:64974800-64999400	Weak transcription	Fetal Brain Male	brain
9	chr14:64974800-65006000	Weak transcription	Ovary	ovary
10	chr14:64975000-64988400	Weak transcription	HSMMtube	muscle
11	chr14:64975200-64987600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr14:64975200-64988200	Weak transcription	Fetal Muscle Leg	muscle
13	chr14:64975200-64988600	Weak transcription	Fetal Stomach	stomach
14	chr14:64976000-64981000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr14:64976000-64981000	Weak transcription	Aorta	Aorta
16	chr14:64976000-64988400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr14:64976000-64995400	Weak transcription	Gastric	stomach
18	chr14:64976000-64996600	Weak transcription	Esophagus	oesophagus
19	chr14:64976000-65006000	Weak transcription	Brain Germinal Matrix	brain
20	chr14:64976200-64988200	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr14:64976200-64988200	Weak transcription	Fetal Intestine Large	intestine
22	chr14:64976200-64988200	Weak transcription	Placenta	Placenta
23	chr14:64976200-64988600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr14:64976200-64991800	Weak transcription	Stomach Mucosa	stomach
25	chr14:64976800-64982600	Weak transcription	Left Ventricle	heart
26	chr14:64977600-64988200	Weak transcription	Right Ventricle	heart
27	chr14:64977800-64981000	Weak transcription	NHDF-Ad	bronchial
28	chr14:64977800-64981400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr14:64977800-64981400	Weak transcription	NHLF	lung
30	chr14:64977800-64981600	Enhancers	Primary T cells from cord blood	blood
31	chr14:64977800-64982000	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr14:64977800-64983200	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr14:64977800-64988400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr14:64977800-64991600	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr14:64977800-64992200	Weak transcription	Colonic Mucosa	Colon
36	chr14:64977800-64993600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr14:64978000-64981000	Weak transcription	Psoas Muscle	Psoas
38	chr14:64978000-64983200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr14:64978000-64983400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr14:64978000-64986400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr14:64978000-64987600	Weak transcription	Fetal Intestine Small	intestine
42	chr14:64978000-64987600	Weak transcription	Thymus	Thymus
43	chr14:64978000-64988600	Weak transcription	Fetal Kidney	kidney
44	chr14:64978200-64980800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr14:64978200-64986200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr14:64978200-64987800	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr14:64978200-64988200	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr14:64978200-64988200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr14:64978200-64988400	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr14:64978200-64988400	Weak transcription	Fetal Lung	lung

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