Variant report

Variant	rs2343604
Chromosome Location	chr14:56769027-56769028
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10144612	0.95[EUR][1000 genomes]
rs10483656	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12147737	1.00[EUR][1000 genomes]
rs1427556	1.00[EUR][1000 genomes]
rs17689278	0.80[AMR][1000 genomes]
rs17762499	0.80[EUR][1000 genomes]
rs17769788	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17832675	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2035283	0.82[EUR][1000 genomes]
rs28712711	0.95[EUR][1000 genomes]
rs58502917	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8020301	1.00[EUR][1000 genomes]
rs959459	0.88[AMR][1000 genomes];1.00[EUR][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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56738800-56775600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr14:56750400-56777600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:56753200-56773200	Weak transcription	Fetal Brain Male	brain
4	chr14:56754600-56771200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr14:56755200-56769800	Strong transcription	Primary hematopoietic stem cells	blood
6	chr14:56755400-56770000	Weak transcription	Brain Substantia Nigra	brain
7	chr14:56757400-56773200	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr14:56758600-56770800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr14:56758800-56772400	Weak transcription	Brain Germinal Matrix	brain
10	chr14:56759000-56777000	Weak transcription	Left Ventricle	heart
11	chr14:56760800-56770800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr14:56763800-56769600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr14:56764000-56769600	Weak transcription	Gastric	stomach
14	chr14:56764000-56770000	Weak transcription	Primary T cells from cord blood	blood
15	chr14:56764400-56770400	Weak transcription	Fetal Intestine Large	intestine
16	chr14:56764400-56774400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr14:56764400-56785600	Weak transcription	Lung	lung
18	chr14:56764400-56798200	Weak transcription	Pancreas	Pancrea
19	chr14:56764400-56808800	Weak transcription	Thymus	Thymus
20	chr14:56764800-56771200	Weak transcription	Fetal Brain Female	brain
21	chr14:56765000-56771200	Weak transcription	Fetal Thymus	thymus
22	chr14:56765000-56772800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr14:56765200-56774800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr14:56765200-56776600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr14:56766000-56771000	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr14:56766400-56776800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr14:56767600-56777200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr14:56767800-56777200	Weak transcription	NH-A	brain
29	chr14:56768200-56769800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr14:56768600-56784600	Weak transcription	Dnd41	blood
31	chr14:56768800-56769200	ZNF genes & repeats	Fetal Intestine Small	intestine
32	chr14:56768800-56771400	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr14:56769000-56769800	Strong transcription	Primary B cells from cord blood	blood
34	chr14:56769000-56771200	Weak transcription	Primary monocytes fromperipheralblood	blood

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