Variant report

Variant	rs2926244
Chromosome Location	chr8:110345261-110345262
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF1	chr8:110344759-110345870	K562	blood:	n/a	chr8:110345632-110345641 chr8:110345668-110345682 chr8:110345668-110345679 chr8:110344999-110345019 chr8:110345666-110345680
2	POLR2A	chr8:110344076-110347416	HUVEC	blood vessel:	n/a	n/a
3	GATA2	chr8:110344021-110345325	HUVEC	blood vessel:	n/a	chr8:110344140-110344150
4	GATA1	chr8:110344274-110345714	PBDE	blood:	n/a	n/a
5	MXI1	chr8:110344615-110347390	IMR90	lung:	n/a	n/a
6	POLR2A	chr8:110344683-110347572	IMR90	lung:	n/a	n/a
7	MXI1	chr8:110344541-110347421	SK-N-SH	brain:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:110344753..110346999-chr8:110656055..110658588,2	MCF-7	breast:
2	chr8:110345081..110347283-chr8:110656599..110658183,2	K562	blood:
3	chr8:110344786..110348564-chr8:110349076..110353866,8	MCF-7	breast:
4	chr8:110329016..110330835-chr8:110344049..110345997,2	MCF-7	breast:
5	chr8:109930677..109932392-chr8:110345259..110348256,2	MCF-7	breast:
6	chr8:110345039..110348121-chr8:110985396..110989742,4	MCF-7	breast:
7	chr8:110345043..110348121-chr8:110552187..110555580,5	K562	blood:
8	chr8:110252748..110254805-chr8:110344261..110345885,2	K562	blood:
9	chr8:110343048..110346506-chr8:110655063..110657604,4	MCF-7	breast:
10	chr8:110344871..110348245-chr8:110549404..110554651,7	MCF-7	breast:
11	chr8:110344899..110348479-chr8:110652629..110655762,4	MCF-7	breast:
12	chr8:110339087..110342457-chr8:110344931..110347313,3	K562	blood:

No data

Variant related genes	Relation type
ENY2	TF binding region
NUDCD1	TF binding region
ENSG00000147642	Chromatin interaction
ENSG00000120526	Chromatin interaction
ENSG00000164794	Chromatin interaction
ENSG00000255402	Chromatin interaction
ENSG00000120533	Chromatin interaction
ENSG00000248050	Chromatin interaction
ENSG00000253796	Chromatin interaction
ENSG00000147654	Chromatin interaction

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

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

rs_ID	r²[population]
rs10087444	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10108349	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1458923	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1531298	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1947629	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1993594	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2054257	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2125511	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2125513	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2168964	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2926195	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2926196	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2926197	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2926208	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2926214	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2926259	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2926263	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2926265	0.89[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2926269	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2926277	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2980589	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2980591	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2980602	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2980606	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2980611	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2980619	0.89[CEU][hapmap];0.81[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2980620	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2980621	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2980623	0.89[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2980627	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2980628	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2980630	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2980632	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2980636	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2980637	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3116095	0.83[ASN][1000 genomes]
rs4734206	0.87[EUR][1000 genomes]
rs4735117	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4735119	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56247307	0.87[EUR][1000 genomes]
rs6469248	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6469249	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7003376	0.87[EUR][1000 genomes]
rs7003806	0.87[EUR][1000 genomes]
rs7819201	0.87[EUR][1000 genomes]
rs7839867	0.87[EUR][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
rs2926244	PKHD1L1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110324000-110345400	Weak transcription	Aorta	Aorta
2	chr8:110332600-110345400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr8:110334800-110345400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr8:110343400-110345600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:110343600-110345400	Flanking Active TSS	HUVEC	blood vessel
6	chr8:110343800-110347600	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr8:110344000-110345400	Flanking Active TSS	Dnd41	blood
8	chr8:110344000-110346200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:110344000-110348000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr8:110344200-110345400	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr8:110344200-110345400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr8:110344200-110345400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
13	chr8:110344200-110345400	Enhancers	Liver	Liver
14	chr8:110344200-110345400	Enhancers	Fetal Heart	heart
15	chr8:110344200-110345600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr8:110344200-110345600	Enhancers	Stomach Mucosa	stomach
17	chr8:110344200-110347600	Active TSS	H9 Cell Line	embryonic stem cell
18	chr8:110344200-110348000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr8:110344400-110345400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr8:110344400-110345400	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr8:110344400-110345400	Enhancers	Primary B cells from peripheral blood	blood
22	chr8:110344400-110345400	Enhancers	Primary T cells fromperipheralblood	blood
23	chr8:110344400-110345400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr8:110344400-110345400	Enhancers	Brain Angular Gyrus	brain
25	chr8:110344400-110345400	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr8:110344400-110345400	Enhancers	Brain Substantia Nigra	brain
27	chr8:110344400-110345400	Enhancers	Placenta	Placenta
28	chr8:110344400-110345400	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr8:110344400-110345600	Enhancers	Small Intestine	intestine
30	chr8:110344400-110345800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr8:110344400-110345800	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr8:110344400-110345800	Flanking Active TSS	Duodenum Mucosa	Duodenum
33	chr8:110344400-110345800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
34	chr8:110344400-110346000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
35	chr8:110344400-110346200	Flanking Active TSS	Primary hematopoietic stem cells	blood
36	chr8:110344400-110348400	Active TSS	Right Ventricle	heart
37	chr8:110344600-110345400	Enhancers	Colon Smooth Muscle	Colon
38	chr8:110344600-110345600	Flanking Active TSS	Primary T cells from cord blood	blood
39	chr8:110344600-110347400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr8:110344600-110347600	Active TSS	HSMMtube	muscle
41	chr8:110344600-110347600	Active TSS	NHLF	lung
42	chr8:110344600-110348200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr8:110344800-110345400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr8:110344800-110345400	Flanking Active TSS	Fetal Kidney	kidney
45	chr8:110344800-110345400	Weak transcription	Ovary	ovary
46	chr8:110344800-110345400	Flanking Active TSS	NH-A	brain
47	chr8:110344800-110345600	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr8:110344800-110345600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr8:110344800-110345600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr8:110344800-110345600	Weak transcription	Gastric	stomach

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