Variant report

Variant	rs911263
Chromosome Location	chr14:68753593-68753594
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68752714..68755212-chr14:69016133..69017803,2	MCF-7	breast:
2	chr14:68750225..68753988-chr14:68760767..68763895,3	K562	blood:
3	chr14:68749379..68750879-chr14:68753293..68755908,2	MCF-7	breast:
4	chr14:68752563..68754193-chr14:69258627..69260664,2	MCF-7	breast:
5	chr14:68745338..68754336-chr14:69258355..69264353,12	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10129646	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10131490	0.92[EUR][1000 genomes]
rs10483807	0.82[LWK][hapmap]
rs11158730	0.82[LWK][hapmap]
rs12880109	0.82[LWK][hapmap]
rs17105278	0.95[CEU][hapmap];0.91[EUR][1000 genomes]
rs1885013	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1950897	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1956532	0.82[LWK][hapmap]
rs1957569	0.87[AMR][1000 genomes]
rs1957570	0.85[ASW][hapmap];0.95[CEU][hapmap];0.91[GIH][hapmap];0.82[MEX][hapmap];0.86[MKK][hapmap];0.93[TSI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2013413	0.82[LWK][hapmap]
rs2104047	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2208397	1.00[CEU][hapmap];0.88[GIH][hapmap];0.95[TSI][hapmap];0.97[EUR][1000 genomes]
rs28498223	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3784099	0.93[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.82[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7148416	0.85[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.91[MKK][hapmap];0.91[TSI][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7148882	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8008961	1.00[CEU][hapmap];0.88[GIH][hapmap];0.95[TSI][hapmap];0.97[EUR][1000 genomes]
rs8015139	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs911254	0.82[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv428628	chr14:68674504-68835127	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Primary biliary cirrhosis	21399635	GWAS catalog

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68746000-68758600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr14:68746600-68764600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr14:68747000-68754000	Enhancers	Primary T cells fromperipheralblood	blood
4	chr14:68747000-68755200	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr14:68747200-68755200	Enhancers	Primary B cells from peripheral blood	blood
6	chr14:68747400-68754000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr14:68748200-68753600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
8	chr14:68748400-68755400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr14:68749000-68754000	Enhancers	Fetal Thymus	thymus
10	chr14:68749200-68753800	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr14:68749400-68753600	Enhancers	Dnd41	blood
12	chr14:68750200-68754000	Enhancers	Thymus	Thymus
13	chr14:68750200-68755400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr14:68750400-68755400	Enhancers	Primary B cells from cord blood	blood
15	chr14:68750400-68758400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr14:68750400-68761200	Weak transcription	Pancreas	Pancrea
17	chr14:68750600-68756200	Weak transcription	Small Intestine	intestine
18	chr14:68750600-68758000	Weak transcription	Lung	lung
19	chr14:68750600-68758400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr14:68750600-68758600	Weak transcription	Psoas Muscle	Psoas
21	chr14:68750600-68759600	Weak transcription	Brain Hippocampus Middle	brain
22	chr14:68750800-68755200	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr14:68750800-68756600	Weak transcription	Fetal Intestine Small	intestine
24	chr14:68750800-68758200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr14:68750800-68761800	Weak transcription	Left Ventricle	heart
26	chr14:68751400-68758200	Weak transcription	HepG2	liver
27	chr14:68751600-68756600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr14:68751800-68758600	Weak transcription	Right Atrium	heart
29	chr14:68752000-68754200	Enhancers	HSMM	muscle
30	chr14:68752000-68756400	Weak transcription	Fetal Intestine Large	intestine
31	chr14:68752000-68757600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr14:68752200-68753600	Enhancers	HSMMtube	muscle
33	chr14:68752200-68754600	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr14:68752200-68755200	Enhancers	Primary T cells from cord blood	blood
35	chr14:68752200-68755400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr14:68752200-68759200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr14:68752400-68755400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr14:68752400-68758000	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr14:68752400-68758200	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr14:68752400-68758600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr14:68752400-68761600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr14:68752400-68765000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr14:68752400-68768800	Weak transcription	Aorta	Aorta
44	chr14:68752600-68753800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr14:68752600-68754400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr14:68752600-68755400	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr14:68752600-68755600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr14:68752600-68758400	Weak transcription	Rectal Smooth Muscle	rectum
49	chr14:68752600-68758600	Weak transcription	Fetal Stomach	stomach
50	chr14:68752600-68761600	Weak transcription	Spleen	Spleen

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