Variant report

Variant	rs6469659
Chromosome Location	chr8:117747736-117747737
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:117747735..117749326-chr8:117777978..117780218,2	MCF-7	breast:
2	chr8:117745068..117749495-chr8:117750950..117754600,6	K562	blood:
3	chr8:117745368..117747957-chr8:117764763..117767614,2	MCF-7	breast:
4	chr8:117742584..117744324-chr8:117747131..117748934,2	MCF-7	breast:
5	chr8:117745587..117747791-chr8:117765896..117768158,2	K562	blood:

Variant related genes	Relation type
ENSG00000147677	Chromatin interaction
ENSG00000147679	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10089833	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10094452	0.82[EUR][1000 genomes]
rs10108262	1.00[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs10111411	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10156225	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10283122	0.84[CEU][hapmap];0.88[TSI][hapmap]
rs10808483	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11775890	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11779352	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12155774	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12375316	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12542425	0.81[AFR][1000 genomes]
rs12547079	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12547108	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13257365	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13258789	0.83[EUR][1000 genomes]
rs13260809	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13264928	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13266314	0.88[TSI][hapmap]
rs1436767	0.81[CEU][hapmap];0.88[TSI][hapmap]
rs17664079	0.84[CEU][hapmap];0.88[TSI][hapmap]
rs28431802	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34007155	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35792844	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4129066	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4304349	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4344109	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4372028	0.84[CEU][hapmap];0.88[TSI][hapmap]
rs4406425	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs4449824	0.84[CEU][hapmap];0.88[TSI][hapmap]
rs4637871	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4876673	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4876675	0.83[EUR][1000 genomes]
rs4876677	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4876678	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62510182	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6992589	0.84[CEU][hapmap];0.88[TSI][hapmap]
rs6995719	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6995838	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7004009	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7011256	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7014156	0.83[CEU][hapmap]
rs7843792	0.81[CEU][hapmap];0.88[TSI][hapmap]
rs9792358	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6469659	C14orf45	trans	cerebellum	SCAN
rs6469659	MRPL13	cis	parietal	SCAN

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117733600-117766600	Weak transcription	Fetal Lung	lung
2	chr8:117733600-117766800	Weak transcription	Adipose Nuclei	Adipose
3	chr8:117734000-117747800	Weak transcription	Lung	lung
4	chr8:117734200-117752400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr8:117734400-117762000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr8:117734400-117766800	Weak transcription	Fetal Stomach	stomach
7	chr8:117734600-117766200	Weak transcription	Fetal Muscle Leg	muscle
8	chr8:117734600-117766400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr8:117734600-117766800	Weak transcription	Fetal Intestine Small	intestine
10	chr8:117734600-117767200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr8:117734800-117747800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr8:117734800-117748600	Weak transcription	Fetal Intestine Large	intestine
13	chr8:117734800-117766200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr8:117735000-117766000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr8:117735000-117766200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr8:117736600-117751200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:117737400-117766600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr8:117737600-117766800	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr8:117737800-117767200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr8:117738200-117766400	Weak transcription	Placenta	Placenta
21	chr8:117738400-117747800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr8:117738400-117755400	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr8:117738400-117764200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr8:117739000-117747800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:117739000-117766000	Weak transcription	Liver	Liver
26	chr8:117739800-117747800	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr8:117739800-117760800	Weak transcription	Dnd41	blood
28	chr8:117740000-117747800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr8:117741000-117766800	Weak transcription	Duodenum Mucosa	Duodenum
30	chr8:117741200-117748200	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr8:117741200-117752000	Weak transcription	NHEK	skin
32	chr8:117741200-117752400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr8:117741200-117764400	Weak transcription	HepG2	liver
34	chr8:117741200-117767400	Weak transcription	Aorta	Aorta
35	chr8:117741400-117747800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:117741400-117751200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr8:117741400-117752200	Weak transcription	A549	lung
38	chr8:117741600-117748400	Weak transcription	HUVEC	blood vessel
39	chr8:117742800-117751200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr8:117742800-117752400	Weak transcription	Gastric	stomach
41	chr8:117742800-117759400	Weak transcription	Esophagus	oesophagus
42	chr8:117742800-117766400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr8:117742800-117767400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr8:117743200-117752400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr8:117744000-117766800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr8:117744200-117747800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr8:117744200-117750600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr8:117744200-117766400	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr8:117744400-117747800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr8:117744400-117748000	Weak transcription	H1 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links