Variant report

Variant	rs1713432
Chromosome Location	chr14:20814091-20814092
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:20810396..20814723-chr14:20817267..20820679,8	MCF-7	breast:
2	chr14:20811759..20814135-chr14:20820161..20822518,2	MCF-7	breast:
3	chr14:20808270..20815666-chr14:20919802..20926735,19	MCF-7	breast:
4	chr14:20813295..20814813-chr14:20857034..20859149,2	MCF-7	breast:
5	chr14:20814045..20815717-chr14:20936287..20939086,2	K562	blood:
6	chr14:20811638..20813233-chr14:20813576..20815950,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198805	Chromatin interaction
ENSG00000100823	Chromatin interaction
ENSG00000092094	Chromatin interaction
ENSG00000129484	Chromatin interaction
ENSG00000259001	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1713411	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1713412	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1713433	0.99[ASN][1000 genomes]
rs17242578	1.00[CHB][hapmap]
rs1760914	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1760915	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1760916	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1760917	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1760920	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1760921	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1760924	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1760925	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2249141	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2459920	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2678681	0.87[ASN][1000 genomes]
rs2678684	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2781367	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3093873	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35217486	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57336845	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6575167	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs7140961	0.92[CHB][hapmap]
rs7149338	0.83[EUR][1000 genomes]
rs7153417	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];0.87[GIH][hapmap];0.83[EUR][1000 genomes]
rs8020840	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs878156	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043923	chr14:20338742-21336425	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
2	nsv541970	chr14:20338742-21336425	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
3	nsv1037160	chr14:20517485-20901811	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
4	nsv541974	chr14:20517485-20901811	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
5	esv1806993	chr14:20743269-20841162	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
6	nsv534131	chr14:20757405-20886235	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases
7	nsv1042025	chr14:20787961-20817851	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
8	esv21015	chr14:20800765-21257878	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:20812000-20820600	Weak transcription	Spleen	Spleen
2	chr14:20812000-20822600	Weak transcription	Gastric	stomach
3	chr14:20812200-20815200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr14:20812200-20815200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr14:20812200-20815800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr14:20812200-20817800	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr14:20812200-20822600	Weak transcription	Pancreas	Pancrea
8	chr14:20812200-20824000	Weak transcription	Aorta	Aorta
9	chr14:20812200-20825400	Weak transcription	Esophagus	oesophagus
10	chr14:20812400-20815200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr14:20812400-20815200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr14:20812400-20815800	Weak transcription	Small Intestine	intestine
13	chr14:20812400-20816000	Weak transcription	Thymus	Thymus
14	chr14:20812400-20818000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr14:20812400-20820400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr14:20812400-20824400	Weak transcription	Stomach Mucosa	stomach
17	chr14:20812400-20880200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr14:20812600-20814600	Weak transcription	Fetal Intestine Small	intestine
19	chr14:20812600-20814800	Weak transcription	Primary hematopoietic stem cells	blood
20	chr14:20812600-20815000	Weak transcription	Primary B cells from peripheral blood	blood
21	chr14:20812600-20815200	Weak transcription	Brain Substantia Nigra	brain
22	chr14:20812600-20815600	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr14:20812600-20816000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr14:20812600-20816000	Weak transcription	Colon Smooth Muscle	Colon
25	chr14:20812600-20816600	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr14:20812600-20817000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr14:20812600-20817200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr14:20812600-20817200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr14:20812600-20817200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr14:20812600-20817600	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr14:20812600-20817800	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr14:20812600-20817800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr14:20812600-20817800	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr14:20812600-20818000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr14:20812600-20820200	Weak transcription	Colonic Mucosa	Colon
36	chr14:20812600-20820600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr14:20812600-20820600	Weak transcription	Psoas Muscle	Psoas
38	chr14:20812600-20820600	Weak transcription	Right Ventricle	heart
39	chr14:20812600-20820800	Weak transcription	NHDF-Ad	bronchial
40	chr14:20812600-20822200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr14:20812600-20824400	Weak transcription	Fetal Heart	heart
42	chr14:20812600-20831800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr14:20812600-20834600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr14:20812600-20841000	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr14:20812600-20845600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr14:20812800-20814800	Weak transcription	GM12878-XiMat	blood
47	chr14:20812800-20815200	Weak transcription	Osteobl	bone
48	chr14:20812800-20818400	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr14:20812800-20820600	Weak transcription	NHLF	lung
50	chr14:20812800-20824000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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