Variant report

Variant	rs12589933
Chromosome Location	chr14:56693357-56693358
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:56686325..56689607-chr14:56690528..56694792,5	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10132757	0.94[ASN][1000 genomes]
rs10152004	1.00[CEU][hapmap];0.92[CHB][hapmap];0.91[JPT][hapmap]
rs1023120	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs1028973	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs1152464	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs1152466	0.92[CHB][hapmap];0.91[JPT][hapmap]
rs1152478	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs1152479	0.81[JPT][hapmap]
rs12589133	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1382974	1.00[CEU][hapmap];0.92[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs1382977	0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs17091062	1.00[CEU][hapmap];0.83[CHB][hapmap]
rs17091112	1.00[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.83[EUR][1000 genomes]
rs17091123	0.92[CHB][hapmap];0.91[JPT][hapmap]
rs17091196	1.00[CEU][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2228708	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap]
rs2297610	1.00[CEU][hapmap];0.92[CHB][hapmap];0.83[AFR][1000 genomes]
rs242581	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs242582	0.82[ASN][1000 genomes]
rs28662163	0.95[ASN][1000 genomes]
rs3783659	1.00[CEU][hapmap];0.93[CHB][hapmap];0.92[JPT][hapmap]
rs385141	0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs3898605	0.85[CHB][hapmap];0.92[JPT][hapmap]
rs4636823	1.00[CEU][hapmap];0.92[CHB][hapmap];0.91[JPT][hapmap]
rs61311029	0.93[ASN][1000 genomes]
rs6573085	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs7141484	1.00[CEU][hapmap];0.92[CHB][hapmap];0.91[JPT][hapmap]
rs7141949	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs7143560	0.92[CHB][hapmap];0.91[JPT][hapmap];0.97[ASN][1000 genomes]
rs7152487	0.83[CHB][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs7161103	1.00[CEU][hapmap];0.84[CHB][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs7161274	1.00[CEU][hapmap];0.92[JPT][hapmap];0.85[ASN][1000 genomes]
rs754314	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8009804	0.93[ASN][1000 genomes]
rs8011852	1.00[CEU][hapmap];0.93[CHB][hapmap];0.92[JPT][hapmap];0.82[ASN][1000 genomes]
rs8014574	0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[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	nsv533129	chr14:56568535-56819234	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv1844788	chr14:56594420-56771207	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1044886	chr14:56689682-56834648	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv542104	chr14:56689682-56834648	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56673000-56694600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr14:56673400-56694600	Weak transcription	Primary B cells from cord blood	blood
3	chr14:56682200-56699200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr14:56686800-56694200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr14:56686800-56702000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr14:56687800-56694800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr14:56688000-56707800	Weak transcription	Spleen	Spleen
8	chr14:56688200-56694200	Weak transcription	Left Ventricle	heart
9	chr14:56688400-56694200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr14:56688800-56695400	Weak transcription	Fetal Thymus	thymus
11	chr14:56689200-56694200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr14:56689600-56694800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr14:56689600-56695200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr14:56689600-56695400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr14:56689600-56699200	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr14:56689600-56710000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr14:56689800-56715800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr14:56691600-56693400	Enhancers	Pancreas	Pancrea
19	chr14:56691800-56696000	Strong transcription	Thymus	Thymus
20	chr14:56692000-56696200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr14:56692200-56694400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr14:56692400-56693400	Enhancers	Lung	lung
23	chr14:56692400-56703000	Weak transcription	Aorta	Aorta
24	chr14:56692400-56710000	Weak transcription	Fetal Stomach	stomach
25	chr14:56692600-56701400	Weak transcription	Ovary	ovary
26	chr14:56692600-56703200	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr14:56692800-56699200	Weak transcription	Stomach Mucosa	stomach
28	chr14:56693000-56694000	Enhancers	Fetal Intestine Large	intestine
29	chr14:56693000-56694400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr14:56693000-56704000	Weak transcription	Primary T cells from cord blood	blood
31	chr14:56693200-56693400	Enhancers	Fetal Brain Male	brain
32	chr14:56693200-56693400	ZNF genes & repeats	Dnd41	blood
33	chr14:56693200-56693800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr14:56693200-56693800	Enhancers	Fetal Intestine Small	intestine
35	chr14:56693200-56694000	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr14:56693200-56703000	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr14:56693200-56724400	Weak transcription	Gastric	stomach

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