Variant report

Variant	rs2153478
Chromosome Location	chr14:64515494-64515495
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	chr14:64514699..64516499-chr14:64517997..64519525,2	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10135588	0.88[EUR][1000 genomes]
rs10140978	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10146667	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10151127	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs11622858	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1255948	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1255950	1.00[CEU][hapmap];0.88[CHB][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1255951	1.00[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1255952	1.00[CEU][hapmap];0.88[CHB][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1255955	1.00[CEU][hapmap];0.89[CHB][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1255960	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1255961	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1255964	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1255965	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1255968	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1255973	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1262241	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12894671	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1890907	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1890908	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2153477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2781377	0.83[AMR][1000 genomes]
rs2781378	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28572628	0.83[ASN][1000 genomes]
rs4275767	0.90[ASN][1000 genomes]
rs4462521	0.83[ASN][1000 genomes]
rs6573544	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7146859	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7150982	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7153376	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7157594	0.83[ASN][1000 genomes]
rs7157993	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[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:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64457000-64519200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr14:64466600-64593200	Weak transcription	Colon Smooth Muscle	Colon
3	chr14:64468800-64527200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr14:64469600-64518400	Weak transcription	HMEC	breast
5	chr14:64475200-64527200	Weak transcription	Fetal Heart	heart
6	chr14:64475600-64518400	Weak transcription	Gastric	stomach
7	chr14:64479200-64526200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr14:64481400-64574000	Weak transcription	Stomach Mucosa	stomach
9	chr14:64489000-64518400	Weak transcription	HUVEC	blood vessel
10	chr14:64489200-64526600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr14:64489400-64568600	Weak transcription	Small Intestine	intestine
12	chr14:64490000-64515800	Weak transcription	Right Ventricle	heart
13	chr14:64491200-64518400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr14:64491200-64565200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr14:64492000-64518600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr14:64492200-64518400	Weak transcription	Fetal Brain Male	brain
17	chr14:64492200-64547400	Weak transcription	Colonic Mucosa	Colon
18	chr14:64492400-64518600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr14:64498200-64516600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr14:64498600-64518400	Weak transcription	Primary B cells from cord blood	blood
21	chr14:64498800-64518400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr14:64498800-64518400	Weak transcription	Fetal Kidney	kidney
23	chr14:64499000-64515600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr14:64499000-64518600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr14:64499000-64518600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr14:64499000-64538800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr14:64499200-64516400	Weak transcription	Ovary	ovary
28	chr14:64499200-64516400	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr14:64499200-64518200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr14:64499200-64518400	Weak transcription	Liver	Liver
31	chr14:64502400-64518200	Weak transcription	GM12878-XiMat	blood
32	chr14:64505400-64518400	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr14:64506200-64516200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr14:64506200-64518400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr14:64506200-64518400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr14:64506200-64518400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr14:64509800-64518400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr14:64510000-64517600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr14:64510600-64518400	Weak transcription	Fetal Lung	lung
40	chr14:64510600-64518600	Weak transcription	Primary B cells from peripheral blood	blood
41	chr14:64510600-64518600	Weak transcription	Brain Germinal Matrix	brain
42	chr14:64510600-64527200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr14:64510800-64518400	Weak transcription	Fetal Brain Female	brain
44	chr14:64510800-64526400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr14:64511000-64517200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr14:64511000-64526200	Weak transcription	Pancreas	Pancrea
47	chr14:64511200-64527000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr14:64511600-64517000	Strong transcription	Primary T cells from cord blood	blood
49	chr14:64511800-64516400	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr14:64512000-64524200	Strong transcription	Dnd41	blood

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