Variant report

Variant	rs2703390
Chromosome Location	chr8:110611358-110611359
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:110609564..110612150-chr8:110618699..110620279,2	K562	blood:

Variant related genes	Relation type
ENSG00000147642	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1892759	0.91[ASN][1000 genomes]
rs1954713	0.85[EUR][1000 genomes]
rs2154656	0.85[EUR][1000 genomes]
rs2154658	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2236627	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2703374	0.91[ASN][1000 genomes]
rs2703375	0.91[ASN][1000 genomes]
rs2703383	0.85[EUR][1000 genomes]
rs2844243	0.85[EUR][1000 genomes]
rs3108830	0.85[EUR][1000 genomes]
rs3108835	0.82[EUR][1000 genomes]
rs3108867	0.85[EUR][1000 genomes]
rs3133923	0.85[EUR][1000 genomes]
rs3134316	0.85[EUR][1000 genomes]
rs3134318	0.85[EUR][1000 genomes]
rs34147744	0.85[EUR][1000 genomes]
rs34649979	0.85[EUR][1000 genomes]
rs35642643	0.85[EUR][1000 genomes]
rs71526740	0.85[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	esv1849702	chr8:110594148-110683804	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
2	nsv519645	chr8:110602317-110613000	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2703390	PKHD1L1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110553800-110613000	Weak transcription	NHLF	lung
2	chr8:110590200-110654800	Weak transcription	Lung	lung
3	chr8:110598800-110615000	Weak transcription	Ovary	ovary
4	chr8:110601800-110612600	Weak transcription	Brain Hippocampus Middle	brain
5	chr8:110602400-110613200	Weak transcription	Psoas Muscle	Psoas
6	chr8:110602400-110615000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr8:110602600-110615200	Weak transcription	Adipose Nuclei	Adipose
8	chr8:110605800-110615200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:110606000-110615200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:110606200-110615400	Weak transcription	Fetal Kidney	kidney
11	chr8:110606400-110611800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr8:110606600-110613400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:110607000-110612800	Weak transcription	HSMM	muscle
14	chr8:110607000-110613000	Weak transcription	Brain Substantia Nigra	brain
15	chr8:110607000-110617000	Weak transcription	Hela-S3	cervix
16	chr8:110607200-110615200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr8:110607600-110615800	Enhancers	Fetal Brain Male	brain
18	chr8:110607800-110612000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr8:110607800-110615200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr8:110607800-110615200	Weak transcription	Left Ventricle	heart
21	chr8:110608000-110611600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr8:110608000-110611800	Weak transcription	HSMMtube	muscle
23	chr8:110608000-110612000	Weak transcription	Brain Angular Gyrus	brain
24	chr8:110608000-110613000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr8:110608000-110613000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr8:110608000-110613400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr8:110608000-110615200	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr8:110608000-110615200	Weak transcription	Stomach Smooth Muscle	stomach
29	chr8:110608200-110612400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr8:110608200-110613000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:110608200-110613000	Weak transcription	A549	lung
32	chr8:110608400-110613000	Weak transcription	HepG2	liver
33	chr8:110608800-110613600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr8:110609000-110614200	Enhancers	Liver	Liver
35	chr8:110609200-110613800	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr8:110609600-110611800	Weak transcription	Right Atrium	heart
37	chr8:110609600-110613000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr8:110609600-110613000	Weak transcription	Gastric	stomach
39	chr8:110609600-110615000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr8:110610000-110611800	Weak transcription	Pancreas	Pancrea
41	chr8:110610400-110611400	Enhancers	Duodenum Mucosa	Duodenum
42	chr8:110610400-110612400	Enhancers	Fetal Intestine Large	intestine
43	chr8:110610400-110612600	Enhancers	Fetal Intestine Small	intestine
44	chr8:110610400-110613000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr8:110610400-110613200	Weak transcription	NHEK	skin
46	chr8:110610400-110613400	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr8:110610600-110613000	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr8:110610600-110613000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr8:110610600-110613000	Weak transcription	Fetal Muscle Leg	muscle
50	chr8:110610600-110613200	Weak transcription	Brain Germinal Matrix	brain

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