Variant report

Variant	rs2980570
Chromosome Location	chr8:110348022-110348023
allele	C/T
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:110346229..110349558-chr8:110551131..110555531,7	K562	blood:
2	chr8:110344786..110348564-chr8:110349076..110353866,8	MCF-7	breast:
3	chr8:109930677..109932392-chr8:110345259..110348256,2	MCF-7	breast:
4	chr8:110345039..110348121-chr8:110985396..110989742,4	MCF-7	breast:
5	chr8:110345043..110348121-chr8:110552187..110555580,5	K562	blood:
6	chr8:110344871..110348245-chr8:110549404..110554651,7	MCF-7	breast:
7	chr8:110344899..110348479-chr8:110652629..110655762,4	MCF-7	breast:
8	chr8:109259359..109262285-chr8:110346380..110348055,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000164794	Chromatin interaction
ENSG00000147654	Chromatin interaction
ENSG00000104408	Chromatin interaction
ENSG00000147642	Chromatin interaction
ENSG00000120533	Chromatin interaction
ENSG00000253796	Chromatin interaction
ENSG00000255402	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	0.95[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	0.81[ASN][1000 genomes]
rs2926232	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	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2926237	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2926239	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2926242	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2980571	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2980585	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2980586	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[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
rs2980570	PKHD1L1	Cis_1M	lymphoblastoid	RTeQTL
rs2980570	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	chr8:110344400-110348400	Active TSS	Right Ventricle	heart
2	chr8:110344600-110348200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:110345000-110348200	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr8:110345000-110348200	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr8:110345000-110348200	Active TSS	GM12878-XiMat	blood
6	chr8:110345400-110348200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:110345600-110348200	Active TSS	Fetal Brain Female	brain
8	chr8:110347000-110358200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:110347000-110358400	Weak transcription	Spleen	Spleen
10	chr8:110347000-110358800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:110347200-110348200	Active TSS	HepG2	liver
12	chr8:110347200-110354800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:110347200-110355000	Weak transcription	Lung	lung
14	chr8:110347200-110357600	Weak transcription	Pancreas	Pancrea
15	chr8:110347200-110358200	Weak transcription	Esophagus	oesophagus
16	chr8:110347200-110359800	Weak transcription	Gastric	stomach
17	chr8:110347400-110348200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr8:110347400-110348200	Weak transcription	Brain Hippocampus Middle	brain
19	chr8:110347400-110348200	Weak transcription	Fetal Heart	heart
20	chr8:110347400-110348400	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr8:110347400-110348400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr8:110347400-110348600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr8:110347400-110349200	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr8:110347400-110349200	Weak transcription	Left Ventricle	heart
25	chr8:110347400-110349400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr8:110347400-110349800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr8:110347400-110350000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr8:110347400-110351200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr8:110347400-110356200	Weak transcription	Ovary	ovary
30	chr8:110347400-110358000	Weak transcription	Colonic Mucosa	Colon
31	chr8:110347400-110358400	Weak transcription	Fetal Brain Male	brain
32	chr8:110347400-110359400	Weak transcription	Aorta	Aorta
33	chr8:110347400-110359400	Weak transcription	Brain Substantia Nigra	brain
34	chr8:110347400-110360000	Weak transcription	Stomach Mucosa	stomach
35	chr8:110347600-110348200	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr8:110347600-110348200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr8:110347600-110348200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr8:110347600-110348200	Enhancers	Primary hematopoietic stem cells	blood
39	chr8:110347600-110348200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr8:110347600-110348200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr8:110347600-110348200	Enhancers	Muscle Satellite Cultured Cells	--
42	chr8:110347600-110348200	Enhancers	Adipose Nuclei	Adipose
43	chr8:110347600-110348200	Enhancers	Brain Anterior Caudate	brain
44	chr8:110347600-110348200	Enhancers	Brain Germinal Matrix	brain
45	chr8:110347600-110348200	Weak transcription	Colon Smooth Muscle	Colon
46	chr8:110347600-110348200	Weak transcription	Fetal Intestine Large	intestine
47	chr8:110347600-110348200	Weak transcription	Fetal Kidney	kidney
48	chr8:110347600-110348200	Weak transcription	Fetal Lung	lung
49	chr8:110347600-110348200	Weak transcription	Fetal Muscle Trunk	muscle
50	chr8:110347600-110348200	Enhancers	Fetal Thymus	thymus

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