Variant report

Variant	rs1255959
Chromosome Location	chr14:64543607-64543608
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:64539092..64541839-chr14:64542206..64544717,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000054654	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10132638	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10138253	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10140978	0.82[CHB][hapmap]
rs10145787	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10151127	0.84[CEU][hapmap]
rs11621129	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1255949	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1255953	0.85[CEU][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1255954	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1255957	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1255960	0.82[CHB][hapmap]
rs1255961	0.82[CHB][hapmap]
rs1255962	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1255963	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1255964	0.83[CHB][hapmap]
rs1255965	0.92[CEU][hapmap];0.82[CHB][hapmap];0.89[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs1255966	0.92[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1255967	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1255968	0.82[CHB][hapmap]
rs1255969	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1255970	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1255971	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1255972	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1255974	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1255975	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1262240	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1266925	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1890908	0.82[CHB][hapmap]
rs1954051	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2153476	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2185453	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2357342	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2357343	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2357344	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2357345	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28607037	0.92[ASN][1000 genomes]
rs28669707	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2884158	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3829767	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4027402	0.92[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4027403	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4027404	0.92[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap]
rs4027405	0.84[CEU][hapmap]
rs4566057	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4617770	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4899132	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4902264	0.92[CEU][hapmap];0.88[JPT][hapmap];0.81[EUR][1000 genomes]
rs6573543	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7158401	0.92[CEU][hapmap];0.83[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7158815	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8010699	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8010911	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8011969	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8016043	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs963289	0.92[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9783605	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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
3	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
4	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

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64466600-64593200	Weak transcription	Colon Smooth Muscle	Colon
2	chr14:64481400-64574000	Weak transcription	Stomach Mucosa	stomach
3	chr14:64489400-64568600	Weak transcription	Small Intestine	intestine
4	chr14:64491200-64565200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr14:64492200-64547400	Weak transcription	Colonic Mucosa	Colon
6	chr14:64519400-64592000	Weak transcription	Fetal Brain Male	brain
7	chr14:64519600-64545200	Weak transcription	Primary B cells from peripheral blood	blood
8	chr14:64525400-64566600	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr14:64526000-64552200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr14:64526800-64577000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr14:64527000-64547200	Weak transcription	Stomach Smooth Muscle	stomach
12	chr14:64527600-64551800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr14:64527800-64549000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr14:64527800-64552000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr14:64527800-64556600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:64528000-64557000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr14:64528000-64567400	Weak transcription	Fetal Heart	heart
18	chr14:64528400-64547000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr14:64529000-64553200	Strong transcription	Dnd41	blood
20	chr14:64529400-64566800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr14:64536800-64546400	Weak transcription	Fetal Brain Female	brain
22	chr14:64536800-64552200	Strong transcription	Placenta	Placenta
23	chr14:64539600-64549400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr14:64539600-64552400	Weak transcription	Brain Anterior Caudate	brain
25	chr14:64540400-64544000	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr14:64540800-64545600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr14:64541200-64545200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr14:64541200-64547400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:64541200-64547400	Weak transcription	Right Ventricle	heart
30	chr14:64541400-64545000	Weak transcription	Primary B cells from cord blood	blood
31	chr14:64541400-64547200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr14:64541400-64549200	Weak transcription	Psoas Muscle	Psoas
33	chr14:64541600-64545200	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr14:64541600-64545400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr14:64541600-64545400	Weak transcription	Fetal Stomach	stomach
36	chr14:64541600-64546400	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr14:64541600-64546400	Weak transcription	Ovary	ovary
38	chr14:64541600-64546800	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr14:64541600-64547000	Weak transcription	Spleen	Spleen
40	chr14:64541600-64547200	Weak transcription	Esophagus	oesophagus
41	chr14:64541600-64547400	Weak transcription	Aorta	Aorta
42	chr14:64541600-64547400	Weak transcription	Gastric	stomach
43	chr14:64541600-64547600	Weak transcription	Pancreas	Pancrea
44	chr14:64541600-64549200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr14:64541800-64544600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr14:64541800-64545200	Weak transcription	Fetal Muscle Leg	muscle
47	chr14:64541800-64545200	Weak transcription	Left Ventricle	heart
48	chr14:64541800-64545400	Weak transcription	Fetal Intestine Small	intestine
49	chr14:64541800-64546400	Weak transcription	Thymus	Thymus
50	chr14:64541800-64546800	Weak transcription	Liver	Liver

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