Variant report

Variant	rs17679493
Chromosome Location	chr14:39593560-39593561
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	chr14:39591967..39594442-chr14:39615758..39618049,2	MCF-7	breast:
2	chr14:39591499..39594370-chr14:39626411..39628050,2	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs12882909	0.82[ASN][1000 genomes]
rs12883114	0.82[CEU][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12891260	0.81[ASN][1000 genomes]
rs12891438	0.81[ASN][1000 genomes]
rs12896384	0.81[ASN][1000 genomes]
rs12896963	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12897263	0.81[ASN][1000 genomes]
rs12897381	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12897593	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17616347	1.00[ASW][hapmap];0.82[CEU][hapmap];0.86[GIH][hapmap];1.00[YRI][hapmap];0.82[ASN][1000 genomes]
rs17617123	1.00[ASW][hapmap];0.91[CEU][hapmap];0.81[CHB][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];0.92[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17617289	0.95[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1884383	1.00[ASW][hapmap];0.82[CEU][hapmap];0.86[GIH][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1950508	0.82[CEU][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1980611	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1980612	0.95[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1980613	0.95[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2038359	1.00[ASW][hapmap];0.95[CEU][hapmap];0.80[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2038360	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2144527	0.82[CEU][hapmap]
rs2273315	0.90[CEU][hapmap];0.81[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2415533	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2753596	0.90[JPT][hapmap];0.82[TSI][hapmap];0.93[ASN][1000 genomes]
rs28364834	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34328534	0.82[ASN][1000 genomes]
rs34896803	0.81[ASN][1000 genomes]
rs34984050	0.81[ASN][1000 genomes]
rs35006421	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35114880	0.95[ASN][1000 genomes]
rs35270180	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35395604	0.82[ASN][1000 genomes]
rs35412542	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35502984	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35534904	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35729735	0.81[ASN][1000 genomes]
rs35767652	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36057038	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55902358	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55993688	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57550673	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs59881143	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60085216	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66488055	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67190795	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67849341	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67968129	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7140282	1.00[ASW][hapmap];0.82[CEU][hapmap];0.80[GIH][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7140321	0.95[ASN][1000 genomes]
rs7145712	0.82[ASN][1000 genomes]
rs7145856	1.00[ASW][hapmap];0.95[CEU][hapmap];0.81[CHB][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs7152392	0.82[ASN][1000 genomes]
rs715267	0.95[CEU][hapmap];0.81[CHB][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7157774	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72673356	0.81[ASN][1000 genomes]
rs8007028	0.82[ASN][1000 genomes]
rs8007240	0.82[CEU][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8008726	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8011244	0.95[CEU][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8011494	0.95[CEU][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8020013	0.82[CEU][hapmap]
rs8020321	0.86[CEU][hapmap];0.80[GIH][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8022864	0.82[ASN][1000 genomes]
rs9743466	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9743749	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]

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	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1038622	chr14:39423562-39604035	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39583800-39626000	Weak transcription	Spleen	Spleen
2	chr14:39584000-39595000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:39584000-39615000	Weak transcription	Pancreas	Pancrea
4	chr14:39584000-39623600	Weak transcription	Esophagus	oesophagus
5	chr14:39584200-39610800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:39584200-39636000	Weak transcription	Small Intestine	intestine
7	chr14:39584200-39638600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr14:39584400-39617200	Weak transcription	Psoas Muscle	Psoas
9	chr14:39584400-39620800	Weak transcription	Colonic Mucosa	Colon
10	chr14:39584400-39626600	Weak transcription	Aorta	Aorta
11	chr14:39584600-39597600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr14:39584600-39597800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr14:39584600-39597800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr14:39584600-39603600	Weak transcription	K562	blood
15	chr14:39584600-39604600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr14:39584600-39609600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr14:39584600-39625800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr14:39585200-39608200	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr14:39585800-39594600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr14:39585800-39595000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr14:39585800-39608200	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr14:39586000-39594800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr14:39586000-39595000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr14:39586000-39595000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr14:39586000-39595600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr14:39586000-39608000	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr14:39586000-39608400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr14:39586000-39608600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:39586000-39608800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr14:39586200-39598600	Strong transcription	Dnd41	blood
31	chr14:39586600-39599800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr14:39586600-39610600	Strong transcription	HepG2	liver
33	chr14:39586800-39594800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr14:39586800-39594800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr14:39586800-39595200	Strong transcription	Fetal Thymus	thymus
36	chr14:39586800-39599400	Strong transcription	Primary B cells from peripheral blood	blood
37	chr14:39587000-39594000	Strong transcription	Primary hematopoietic stem cells	blood
38	chr14:39587000-39595800	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr14:39587000-39596400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr14:39587200-39593600	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr14:39587200-39594800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr14:39587200-39595000	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr14:39587200-39609600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr14:39587400-39594200	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr14:39587400-39594600	Strong transcription	Liver	Liver
46	chr14:39587400-39595400	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr14:39587400-39598600	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr14:39587400-39608400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr14:39587600-39594800	Strong transcription	GM12878-XiMat	blood
50	chr14:39587600-39596000	Strong transcription	Stomach Smooth Muscle	stomach

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