Variant report

Variant	rs1152464
Chromosome Location	chr14:56761765-56761766
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10152004	0.92[CHB][hapmap];0.84[GIH][hapmap];0.82[JPT][hapmap]
rs1023120	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1028973	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1152463	1.00[ASW][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes]
rs1152466	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1152471	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1152477	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1152478	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1152479	1.00[CEU][hapmap];0.94[CHD][hapmap];0.91[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1152486	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1152488	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1152493	0.94[EUR][1000 genomes]
rs1188689	0.81[EUR][1000 genomes]
rs1188691	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12589933	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs1382974	0.92[CHB][hapmap];0.84[CHD][hapmap];0.92[GIH][hapmap];0.82[JPT][hapmap]
rs1382977	0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs17091062	0.83[CHB][hapmap];0.84[CHD][hapmap]
rs17091112	0.82[JPT][hapmap]
rs17091123	0.92[CHB][hapmap];0.82[JPT][hapmap]
rs17091196	0.92[CHB][hapmap];0.82[JPT][hapmap];0.87[ASN][1000 genomes]
rs2228708	0.91[JPT][hapmap]
rs2297610	0.92[CHB][hapmap];0.82[JPT][hapmap];0.90[ASN][1000 genomes]
rs242581	0.91[JPT][hapmap]
rs3783659	0.92[CHB][hapmap];0.82[JPT][hapmap]
rs385141	0.92[CHB][hapmap];0.87[CHD][hapmap];0.91[JPT][hapmap]
rs3898605	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs4636823	0.92[CHB][hapmap];0.82[JPT][hapmap]
rs6573085	0.89[JPT][hapmap]
rs7141484	0.92[CHB][hapmap];0.92[GIH][hapmap];0.82[JPT][hapmap]
rs7141949	0.92[CHB][hapmap];0.91[JPT][hapmap]
rs7143560	0.92[CHB][hapmap];0.84[CHD][hapmap];0.82[JPT][hapmap]
rs7152487	0.83[CHB][hapmap];0.84[CHD][hapmap];0.82[JPT][hapmap]
rs7161103	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs7161274	0.82[JPT][hapmap]
rs754314	0.83[CHB][hapmap];0.94[CHD][hapmap];0.92[GIH][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs8011852	0.92[CHB][hapmap];0.82[JPT][hapmap]
rs8014574	0.92[CHB][hapmap];0.84[CHD][hapmap];0.91[JPT][hapmap];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
5	nsv901978	chr14:56740554-56799997	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv901979	chr14:56740554-56802610	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56717800-56765400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:56735800-56765800	Weak transcription	NHLF	lung
3	chr14:56738800-56766000	Weak transcription	Brain Angular Gyrus	brain
4	chr14:56738800-56775600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr14:56740000-56764800	Weak transcription	Right Ventricle	heart
6	chr14:56741600-56766000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr14:56747000-56765400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr14:56747000-56768600	Strong transcription	Dnd41	blood
9	chr14:56748400-56762800	Weak transcription	Stomach Mucosa	stomach
10	chr14:56749000-56762400	Weak transcription	Gastric	stomach
11	chr14:56750400-56777600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr14:56753200-56765400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr14:56753200-56773200	Weak transcription	Fetal Brain Male	brain
14	chr14:56753800-56765600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr14:56753800-56765800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr14:56754400-56764400	Strong transcription	Primary B cells from cord blood	blood
17	chr14:56754400-56764800	Weak transcription	Colonic Mucosa	Colon
18	chr14:56754400-56765200	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr14:56754400-56765200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr14:56754600-56763400	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr14:56754600-56765000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr14:56754600-56765400	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr14:56754600-56771200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr14:56755000-56764400	Strong transcription	Thymus	Thymus
25	chr14:56755000-56767000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr14:56755200-56762800	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr14:56755200-56764400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr14:56755200-56764400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr14:56755200-56769800	Strong transcription	Primary hematopoietic stem cells	blood
30	chr14:56755400-56764800	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr14:56755400-56770000	Weak transcription	Brain Substantia Nigra	brain
32	chr14:56755600-56764600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr14:56755600-56765200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr14:56755600-56765400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr14:56755600-56765400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr14:56755800-56762000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr14:56755800-56765200	Weak transcription	Liver	Liver
38	chr14:56756000-56764000	Strong transcription	Fetal Brain Female	brain
39	chr14:56756400-56765400	Weak transcription	Stomach Smooth Muscle	stomach
40	chr14:56757400-56761800	Weak transcription	Primary B cells from peripheral blood	blood
41	chr14:56757400-56763400	Weak transcription	Brain Hippocampus Middle	brain
42	chr14:56757400-56765000	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr14:56757400-56765400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr14:56757400-56765600	Weak transcription	Rectal Smooth Muscle	rectum
45	chr14:56757400-56773200	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr14:56757600-56765000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr14:56757600-56767000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr14:56758000-56764400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr14:56758200-56762400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr14:56758400-56762800	Weak transcription	Primary T helper cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links