Variant report

Variant	rs17111839
Chromosome Location	chr14:81915499-81915500
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:81684227..81690291-chr14:81911956..81927827,27	MCF-7	breast:
2	chr14:81892286..81893996-chr14:81913738..81916101,2	K562	blood:
3	chr14:81685291..81688139-chr14:81913963..81916118,2	K562	blood:
4	chr14:81779689..81782584-chr14:81913814..81916244,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165417	Chromatin interaction
ENSG00000140022	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11159500	1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[ASN][1000 genomes]
rs12100504	0.96[ASN][1000 genomes]
rs12100962	1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[ASN][1000 genomes]
rs12100967	1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[ASN][1000 genomes]
rs12101219	1.00[CHB][hapmap];0.96[CHD][hapmap];0.90[JPT][hapmap];0.96[ASN][1000 genomes]
rs12586522	0.81[JPT][hapmap]
rs12586556	0.91[ASN][1000 genomes]
rs12586817	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs12589111	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs12589155	0.91[ASN][1000 genomes]
rs12589750	0.96[CHD][hapmap];0.81[JPT][hapmap]
rs12590539	0.84[ASN][1000 genomes]
rs17111794	0.85[MEX][hapmap]
rs17111807	0.96[CHD][hapmap];0.81[JPT][hapmap]
rs17111815	1.00[CHD][hapmap];0.91[JPT][hapmap];0.85[MEX][hapmap]
rs17111817	0.96[CHD][hapmap];0.81[JPT][hapmap]
rs17111825	0.82[ASN][1000 genomes]
rs17111826	1.00[MEX][hapmap]
rs17111840	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17111848	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2371601	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs28409508	0.82[ASN][1000 genomes]
rs3853422	0.89[CHB][hapmap];0.96[CHD][hapmap];0.81[JPT][hapmap]
rs3900647	0.85[MEX][hapmap]
rs57980855	0.97[EUR][1000 genomes]
rs58416131	0.84[AFR][1000 genomes]
rs58975890	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59694925	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs59833833	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs731389	1.00[CHB][hapmap];0.96[CHD][hapmap];0.90[JPT][hapmap];0.96[ASN][1000 genomes]
rs731390	1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[ASN][1000 genomes]
rs73344128	0.84[ASN][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	esv3358936	chr14:81786719-81928269	Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
2	nsv1047694	chr14:81831147-82534026	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv542145	chr14:81831147-82534026	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81910000-81919000	Weak transcription	K562	blood
2	chr14:81912600-81916800	Enhancers	Psoas Muscle	Psoas
3	chr14:81912600-81917000	Enhancers	NHDF-Ad	bronchial
4	chr14:81913200-81915600	Weak transcription	Fetal Lung	lung
5	chr14:81914800-81916200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr14:81914800-81916800	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr14:81914800-81916800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr14:81914800-81917000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr14:81914800-81917000	Enhancers	Placenta	Placenta
10	chr14:81915000-81916000	Flanking Active TSS	Brain Anterior Caudate	brain
11	chr14:81915000-81916800	Enhancers	Brain Cingulate Gyrus	brain
12	chr14:81915000-81916800	Enhancers	Brain Substantia Nigra	brain
13	chr14:81915000-81916800	Flanking Active TSS	Fetal Muscle Leg	muscle
14	chr14:81915000-81916800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr14:81915000-81917400	Enhancers	HepG2	liver
16	chr14:81915200-81915600	Active TSS	Fetal Muscle Trunk	muscle
17	chr14:81915200-81915600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
18	chr14:81915200-81916000	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr14:81915200-81916000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr14:81915200-81916200	Enhancers	Liver	Liver
21	chr14:81915200-81916200	Weak transcription	Spleen	Spleen
22	chr14:81915200-81917000	Enhancers	Adipose Nuclei	Adipose
23	chr14:81915200-81917000	Enhancers	Fetal Stomach	stomach
24	chr14:81915200-81917400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr14:81915400-81915600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr14:81915400-81915600	Flanking Active TSS	Brain Angular Gyrus	brain
27	chr14:81915400-81915600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
28	chr14:81915400-81915600	Flanking Active TSS	Ovary	ovary
29	chr14:81915400-81915600	Bivalent Enhancer	Osteobl	bone
30	chr14:81915400-81915800	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr14:81915400-81915800	Enhancers	Aorta	Aorta
32	chr14:81915400-81915800	Flanking Active TSS	Fetal Brain Male	brain
33	chr14:81915400-81915800	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr14:81915400-81915800	Bivalent Enhancer	NHLF	lung
35	chr14:81915400-81916000	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr14:81915400-81916000	Flanking Active TSS	Fetal Brain Female	brain
37	chr14:81915400-81916000	Enhancers	HSMM	muscle
38	chr14:81915400-81916200	Enhancers	Duodenum Mucosa	Duodenum
39	chr14:81915400-81916200	Enhancers	Fetal Intestine Large	intestine
40	chr14:81915400-81916200	Enhancers	Fetal Intestine Small	intestine
41	chr14:81915400-81916200	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr14:81915400-81916200	Enhancers	HSMMtube	muscle
43	chr14:81915400-81916400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr14:81915400-81916400	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr14:81915400-81916400	Bivalent Enhancer	Stomach Mucosa	stomach
46	chr14:81915400-81916600	Enhancers	H9 Cell Line	embryonic stem cell
47	chr14:81915400-81916800	Flanking Active TSS	Brain Germinal Matrix	brain
48	chr14:81915400-81916800	Flanking Active TSS	Brain Hippocampus Middle	brain
49	chr14:81915400-81916800	Enhancers	Pancreas	Pancrea
50	chr14:81915400-81917000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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