Variant report

Variant	rs3116095
Chromosome Location	chr8:110323258-110323259
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10087444	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10108349	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1458923	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1531298	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1947629	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1993594	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2054257	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2125511	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2125513	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2168964	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2926195	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2926196	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2926197	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2926208	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2926214	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2926244	0.83[ASN][1000 genomes]
rs2926259	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2926263	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2926265	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2926269	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2926277	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2980589	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2980591	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2980602	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2980606	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2980611	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2980619	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2980620	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2980621	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2980623	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2980627	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2980628	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2980630	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2980632	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2980636	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2980637	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4734206	0.81[EUR][1000 genomes]
rs4735117	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4735119	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56247307	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6469248	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6469249	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7003376	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7003806	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7819201	0.81[EUR][1000 genomes]
rs7839867	0.81[EUR][1000 genomes];0.81[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	nsv891273	chr8:110219735-110475874	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv891279	chr8:110268104-110450092	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3116095	PKHD1L1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110236600-110344200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr8:110284400-110344400	Weak transcription	Fetal Lung	lung
3	chr8:110288600-110344200	Weak transcription	Ovary	ovary
4	chr8:110292000-110333200	Weak transcription	HepG2	liver
5	chr8:110293000-110343600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:110306600-110324800	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr8:110307600-110333000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:110312000-110344000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr8:110312200-110342800	Weak transcription	Left Ventricle	heart
10	chr8:110312400-110327200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr8:110312400-110344200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr8:110315000-110324200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr8:110315000-110324600	Weak transcription	Fetal Heart	heart
14	chr8:110317600-110324800	Weak transcription	Primary B cells from cord blood	blood
15	chr8:110317800-110325800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr8:110318000-110324800	Weak transcription	Dnd41	blood
17	chr8:110318200-110331600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr8:110318400-110344000	Weak transcription	NHLF	lung
19	chr8:110318600-110324800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:110318600-110325000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:110318600-110332800	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr8:110318600-110342800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr8:110318800-110323800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr8:110318800-110335200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr8:110319400-110324800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr8:110319400-110344200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr8:110321000-110327400	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr8:110321800-110327400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr8:110322000-110328800	Weak transcription	Primary hematopoietic stem cells	blood
30	chr8:110322000-110344200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr8:110322200-110323600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr8:110322200-110325000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr8:110322400-110324600	Weak transcription	A549	lung
34	chr8:110322600-110323600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr8:110322800-110327400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr8:110322800-110331600	Weak transcription	Fetal Muscle Trunk	muscle
37	chr8:110323000-110326400	Weak transcription	Osteobl	bone
38	chr8:110323200-110335400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr8:110323200-110340000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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