Variant report

Variant	rs2926242
Chromosome Location	chr8:110349815-110349816
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:110296774..110299286-chr8:110348162..110350315,2	K562	blood:
2	chr8:110344786..110348564-chr8:110349076..110353866,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000120533	Chromatin interaction
ENSG00000120526	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11998321	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1870389	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2926229	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2926230	0.82[ASN][1000 genomes]
rs2926232	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2926233	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2926234	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2926237	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2926239	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2980570	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2980571	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2980585	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2980586	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	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
3	nsv891280	chr8:110346363-110465481	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2926242	PKHD1L1	Cis_1M	lymphoblastoid	RTeQTL
rs2926242	PKHD1L1	cis	multi-tissue	Pritchard

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110347000-110358200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:110347000-110358400	Weak transcription	Spleen	Spleen
3	chr8:110347000-110358800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:110347200-110354800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:110347200-110355000	Weak transcription	Lung	lung
6	chr8:110347200-110357600	Weak transcription	Pancreas	Pancrea
7	chr8:110347200-110358200	Weak transcription	Esophagus	oesophagus
8	chr8:110347200-110359800	Weak transcription	Gastric	stomach
9	chr8:110347400-110350000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:110347400-110351200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr8:110347400-110356200	Weak transcription	Ovary	ovary
12	chr8:110347400-110358000	Weak transcription	Colonic Mucosa	Colon
13	chr8:110347400-110358400	Weak transcription	Fetal Brain Male	brain
14	chr8:110347400-110359400	Weak transcription	Aorta	Aorta
15	chr8:110347400-110359400	Weak transcription	Brain Substantia Nigra	brain
16	chr8:110347400-110360000	Weak transcription	Stomach Mucosa	stomach
17	chr8:110347600-110350000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr8:110347600-110350200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr8:110347600-110350400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr8:110347600-110354800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr8:110347600-110354800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr8:110347600-110356000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr8:110347600-110357800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr8:110347600-110358200	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr8:110347600-110358200	Weak transcription	HSMMtube	muscle
26	chr8:110347600-110358400	Weak transcription	Fetal Stomach	stomach
27	chr8:110348000-110350800	Weak transcription	Psoas Muscle	Psoas
28	chr8:110348000-110351000	Weak transcription	Brain Angular Gyrus	brain
29	chr8:110348000-110356200	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr8:110348000-110358400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr8:110348200-110350600	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr8:110348200-110353400	Strong transcription	Primary B cells from peripheral blood	blood
33	chr8:110348200-110355200	Strong transcription	Fetal Muscle Trunk	muscle
34	chr8:110348200-110356600	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr8:110348200-110356600	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr8:110348200-110356600	Strong transcription	A549	lung
37	chr8:110348200-110356800	Strong transcription	Placenta	Placenta
38	chr8:110348200-110356800	Strong transcription	NH-A	brain
39	chr8:110348200-110357000	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr8:110348200-110357000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr8:110348200-110357400	Strong transcription	Primary B cells from cord blood	blood
42	chr8:110348200-110357400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr8:110348200-110357400	Strong transcription	Fetal Intestine Large	intestine
44	chr8:110348400-110350400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr8:110348400-110350800	Genic enhancers	Fetal Brain Female	brain
46	chr8:110348400-110351000	Genic enhancers	Dnd41	blood
47	chr8:110348400-110353000	Strong transcription	Stomach Smooth Muscle	stomach
48	chr8:110348400-110354000	Weak transcription	Brain Germinal Matrix	brain
49	chr8:110348400-110356200	Weak transcription	Fetal Muscle Leg	muscle
50	chr8:110348400-110356400	Weak transcription	Right Ventricle	heart

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