Variant report

Variant	rs11622913
Chromosome Location	chr14:64480267-64480268
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:64479160..64481857-chr14:64484574..64486419,2	MCF-7	breast:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10132638	0.80[EUR][1000 genomes]
rs10138253	0.80[EUR][1000 genomes]
rs10145787	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10151127	0.91[CEU][hapmap]
rs11621129	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1255954	0.92[CEU][hapmap];0.88[JPT][hapmap]
rs1255959	0.84[CEU][hapmap];0.88[JPT][hapmap]
rs1255965	0.83[CEU][hapmap]
rs1255966	0.92[CEU][hapmap];0.82[JPT][hapmap]
rs1255967	0.92[CEU][hapmap];0.88[JPT][hapmap]
rs1255969	0.80[EUR][1000 genomes]
rs1255971	0.80[EUR][1000 genomes]
rs1255972	0.80[EUR][1000 genomes]
rs1255975	0.80[EUR][1000 genomes]
rs1262240	0.92[CEU][hapmap];0.88[JPT][hapmap]
rs1266925	0.80[EUR][1000 genomes]
rs1954051	0.80[EUR][1000 genomes]
rs2153476	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2185453	0.80[EUR][1000 genomes]
rs2357342	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2357343	0.92[EUR][1000 genomes]
rs2357344	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2357345	0.83[EUR][1000 genomes]
rs28607037	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28669707	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2884158	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3829767	0.92[CEU][hapmap];0.88[JPT][hapmap];0.80[EUR][1000 genomes]
rs4027402	1.00[CEU][hapmap];0.94[JPT][hapmap];0.84[YRI][hapmap];0.92[AFR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4027403	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4027404	1.00[CEU][hapmap];0.94[JPT][hapmap]
rs4027405	0.91[CEU][hapmap]
rs4566057	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4899132	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4902264	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6573543	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7158401	0.92[CEU][hapmap]
rs7158815	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8010699	0.92[CEU][hapmap];0.88[JPT][hapmap];0.80[EUR][1000 genomes]
rs8010911	0.92[CEU][hapmap];0.88[JPT][hapmap];0.80[EUR][1000 genomes]
rs8011969	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8016043	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs963289	0.92[CEU][hapmap];0.88[JPT][hapmap]
rs9783605	0.91[EUR][1000 genomes];0.84[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	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1038825	chr14:64109441-64491720	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv902019	chr14:64395569-64882380	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv456326	chr14:64420413-64754361	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv564905	chr14:64420413-64754361	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv902020	chr14:64434288-64506541	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 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	chr14:64395000-64491000	Weak transcription	Psoas Muscle	Psoas
2	chr14:64419200-64489000	Weak transcription	Small Intestine	intestine
3	chr14:64440800-64480400	Strong transcription	Primary T cells fromperipheralblood	blood
4	chr14:64442400-64491000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr14:64452400-64480600	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr14:64457000-64502000	Strong transcription	Placenta	Placenta
7	chr14:64457000-64519200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr14:64458800-64490400	Weak transcription	Colonic Mucosa	Colon
9	chr14:64459600-64481200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr14:64460000-64481200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr14:64460000-64488000	Weak transcription	Pancreas	Pancrea
12	chr14:64460000-64513400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr14:64460600-64495000	Weak transcription	NHDF-Ad	bronchial
14	chr14:64463200-64491000	Weak transcription	Fetal Brain Male	brain
15	chr14:64464000-64488600	Weak transcription	HUVEC	blood vessel
16	chr14:64466400-64490600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr14:64466600-64490400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr14:64466600-64513200	Weak transcription	NHEK	skin
19	chr14:64466600-64593200	Weak transcription	Colon Smooth Muscle	Colon
20	chr14:64468000-64480600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr14:64468400-64482200	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr14:64468800-64527200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr14:64469200-64488000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr14:64469600-64518400	Weak transcription	HMEC	breast
25	chr14:64470000-64490600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr14:64470200-64488000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr14:64470400-64481000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr14:64470400-64481000	Weak transcription	Primary B cells from peripheral blood	blood
29	chr14:64470400-64484400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr14:64470600-64487600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr14:64470800-64481000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr14:64471800-64481000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr14:64471800-64487000	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr14:64471800-64488000	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr14:64471800-64489800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr14:64471800-64490800	Weak transcription	Spleen	Spleen
37	chr14:64471800-64505200	Weak transcription	Stomach Smooth Muscle	stomach
38	chr14:64472000-64484200	Weak transcription	Fetal Kidney	kidney
39	chr14:64472000-64485400	Weak transcription	Primary B cells from cord blood	blood
40	chr14:64472200-64488000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr14:64473000-64515000	Weak transcription	Hela-S3	cervix
42	chr14:64474200-64484600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr14:64474400-64481000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr14:64474400-64481000	Weak transcription	Fetal Lung	lung
45	chr14:64474400-64505000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr14:64474600-64481200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr14:64474800-64480600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr14:64475000-64484200	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr14:64475000-64487800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr14:64475000-64488400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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