Variant report

Variant	rs2718927
Chromosome Location	chr15:56518875-56518876
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:56512622..56516382-chr15:56518362..56521999,4	K562	blood:
2	chr15:56516120..56519450-chr15:56528763..56530830,3	K562	blood:
3	chr15:56517945..56522475-chr15:56532942..56536961,5	K562	blood:

Variant related genes	Relation type
ENSG00000181827	Chromatin interaction
ENSG00000151575	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10444835	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11071244	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11071248	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11071251	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11071256	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12437466	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs12438262	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12438452	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12438525	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12438606	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12438670	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12439033	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12439133	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12439245	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs12440495	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12440509	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12440577	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs12440898	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12441182	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs12441309	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs12441438	1.00[CEU][hapmap]
rs12441580	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12443028	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12443042	1.00[CEU][hapmap]
rs12443087	0.82[CEU][hapmap]
rs12443486	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1402173	1.00[CEU][hapmap]
rs16976721	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16976722	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16976737	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16976776	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16976787	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16976793	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16976808	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes]
rs16976820	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16976824	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17238684	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs17819426	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs17819450	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs2681977	0.82[CEU][hapmap]
rs28895323	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3858883	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs4310793	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56798454	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7177904	1.00[CEU][hapmap]
rs7180561	0.97[EUR][1000 genomes]
rs7181011	0.97[EUR][1000 genomes]
rs8023554	0.82[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833019	chr15:56486029-56649933	Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv569547	chr15:56504598-56572176	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv2760380	chr15:56510123-56529955	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56485600-56521200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr15:56508000-56534400	Weak transcription	Fetal Heart	heart
3	chr15:56508200-56524000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr15:56508400-56523000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr15:56509000-56533600	Weak transcription	Osteobl	bone
6	chr15:56509800-56522400	Weak transcription	Fetal Brain Male	brain
7	chr15:56510200-56523200	Weak transcription	NH-A	brain
8	chr15:56510600-56528600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr15:56512200-56519600	Weak transcription	HSMM	muscle
10	chr15:56513800-56523800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr15:56513800-56530200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
12	chr15:56514000-56535000	Weak transcription	Pancreas	Pancrea
13	chr15:56514600-56532400	Weak transcription	HSMMtube	muscle
14	chr15:56514800-56520400	Weak transcription	Fetal Kidney	kidney
15	chr15:56514800-56534800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr15:56515400-56522800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr15:56515400-56523600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr15:56515600-56519800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr15:56515600-56520400	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr15:56515600-56522400	Weak transcription	HMEC	breast
21	chr15:56515600-56522800	Weak transcription	Fetal Thymus	thymus
22	chr15:56515600-56523000	Weak transcription	Thymus	Thymus
23	chr15:56515600-56524000	Weak transcription	Aorta	Aorta
24	chr15:56515600-56524000	Weak transcription	Ovary	ovary
25	chr15:56515800-56519000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr15:56515800-56520000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr15:56515800-56520200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr15:56515800-56520200	Weak transcription	Liver	Liver
29	chr15:56515800-56521000	Weak transcription	Fetal Intestine Small	intestine
30	chr15:56515800-56521200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr15:56515800-56522000	Weak transcription	NHEK	skin
32	chr15:56515800-56522200	Weak transcription	Hela-S3	cervix
33	chr15:56515800-56522400	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr15:56515800-56523200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr15:56515800-56523800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr15:56515800-56523800	Weak transcription	Left Ventricle	heart
37	chr15:56515800-56523800	Weak transcription	Small Intestine	intestine
38	chr15:56515800-56523800	Weak transcription	HepG2	liver
39	chr15:56515800-56524000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr15:56515800-56524200	Weak transcription	HUVEC	blood vessel
41	chr15:56515800-56529200	Weak transcription	Colon Smooth Muscle	Colon
42	chr15:56516000-56519400	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr15:56516200-56520000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr15:56516200-56520200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr15:56516200-56525600	Weak transcription	NHDF-Ad	bronchial
46	chr15:56516400-56520200	Weak transcription	A549	lung
47	chr15:56516600-56519400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr15:56516800-56519800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr15:56517000-56520800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr15:56517200-56519800	Enhancers	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links