Variant report

Variant	rs11072507
Chromosome Location	chr15:75054866-75054867
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:75051203..75056019-chr15:75070917..75077277,10	K562	blood:
2	chr15:74906445..74912146-chr15:75051101..75055740,8	K562	blood:
3	chr15:75052595..75054880-chr15:75088120..75090016,2	K562	blood:
4	chr15:75042997..75044715-chr15:75054154..75056433,2	K562	blood:
5	chr15:75053056..75055399-chr15:75065687..75067958,2	K562	blood:
6	chr15:74912455..74914304-chr15:75053068..75055642,2	K562	blood:
7	chr15:74947623..74950435-chr15:75051596..75055005,3	K562	blood:
8	chr15:74906445..74909695-chr15:75051594..75054870,4	K562	blood:
9	chr15:74923400..74930525-chr15:75051156..75055719,14	K562	blood:

No data

Variant related genes	Relation type
ENSG00000179151	Chromatin interaction
ENSG00000260919	Chromatin interaction
ENSG00000103653	Chromatin interaction
ENSG00000179335	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11072508	0.88[CHB][hapmap];0.82[JPT][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11630478	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11632414	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11635664	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12591513	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12594062	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12898997	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12903541	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12903896	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12905199	0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12909307	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12917376	0.84[ASN][1000 genomes]
rs1378940	0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1378941	1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1378942	0.88[CHB][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2168518	0.88[CHB][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2470890	0.81[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2472304	0.81[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2960192	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34862454	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs35206230	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3784789	0.88[CHB][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4886410	0.88[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.90[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	nsv904380	chr15:74869438-75142761	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv833055	chr15:74988344-75166288	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11072507	SCAMP5	cis	Artery Tibial	GTEx
rs11072507	COX5A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75044800-75062600	Weak transcription	Right Atrium	heart
2	chr15:75047200-75063000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr15:75053600-75056000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr15:75053600-75056000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr15:75053600-75056200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr15:75053600-75056400	Enhancers	Fetal Intestine Small	intestine
7	chr15:75053800-75055400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr15:75053800-75055400	Enhancers	Duodenum Mucosa	Duodenum
9	chr15:75053800-75055600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr15:75053800-75055800	Enhancers	Fetal Intestine Large	intestine
11	chr15:75053800-75056000	Enhancers	Lung	lung
12	chr15:75054000-75055400	Enhancers	Primary hematopoietic stem cells	blood
13	chr15:75054000-75055800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr15:75054000-75056400	Enhancers	Placenta	Placenta
15	chr15:75054200-75055400	Enhancers	Fetal Thymus	thymus
16	chr15:75054200-75056200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr15:75054200-75056400	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr15:75054200-75057000	Enhancers	Fetal Muscle Trunk	muscle
19	chr15:75054400-75055200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr15:75054400-75055200	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr15:75054400-75055200	Enhancers	Thymus	Thymus
22	chr15:75054400-75055600	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr15:75054400-75055600	Enhancers	HUVEC	blood vessel
24	chr15:75054400-75055800	Enhancers	Fetal Lung	lung
25	chr15:75054400-75056000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr15:75054600-75055200	Enhancers	Primary B cells from cord blood	blood
27	chr15:75054600-75055200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
28	chr15:75054600-75055200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
29	chr15:75054600-75055600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr15:75054600-75055800	Bivalent Enhancer	Fetal Muscle Leg	muscle
31	chr15:75054600-75056000	Enhancers	Left Ventricle	heart
32	chr15:75054600-75056200	Enhancers	Spleen	Spleen
33	chr15:75054600-75056400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr15:75054800-75055000	Enhancers	Colonic Mucosa	Colon
35	chr15:75054800-75055200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr15:75054800-75055400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr15:75054800-75055400	Bivalent Enhancer	Adipose Nuclei	Adipose
38	chr15:75054800-75055400	Enhancers	GM12878-XiMat	blood
39	chr15:75054800-75055800	Bivalent Enhancer	Fetal Stomach	stomach
40	chr15:75054800-75056000	Enhancers	Right Ventricle	heart
41	chr15:75054800-75056200	Enhancers	H1 Cell Line	embryonic stem cell
42	chr15:75054800-75056400	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr15:75054800-75056400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr15:75054800-75060600	Weak transcription	HepG2	liver

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