Variant report

Variant	rs2703375
Chromosome Location	chr8:110609839-110609840
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOSL2	chr8:110609808-110610438	SK-N-SH	brain:	n/a	chr8:110610148-110610156 chr8:110610146-110610158
2	JUND	chr8:110609808-110610409	SK-N-SH	brain:	n/a	chr8:110610148-110610156 chr8:110610234-110610245 chr8:110610146-110610158
3	FOSL1	chr8:110609816-110610499	HCT-116	colon:	n/a	chr8:110610148-110610156 chr8:110610146-110610158
4	TCF12	chr8:110609782-110610392	SK-N-SH	brain:	n/a	n/a
5	TCF12	chr8:110609823-110610527	SK-N-SH	brain:	n/a	n/a
6	GATA3	chr8:110609765-110610340	SK-N-SH	brain:	n/a	n/a
7	JUND	chr8:110609808-110610469	HCT-116	colon:	n/a	chr8:110610148-110610156 chr8:110610234-110610245 chr8:110610146-110610158
8	GATA3	chr8:110609713-110610442	SK-N-SH	brain:	n/a	n/a
9	PBX3	chr8:110609829-110610343	SK-N-SH	brain:	n/a	n/a
10	EP300	chr8:110609775-110610474	SK-N-SH	brain:	n/a	n/a
11	GATA2	chr8:110609813-110610282	HUVEC	blood vessel:	n/a	n/a
12	JUND	chr8:110609785-110610475	HCT-116	colon:	n/a	chr8:110610148-110610156 chr8:110610234-110610245 chr8:110610146-110610158
13	JUND	chr8:110609812-110610405	SK-N-SH	brain:	n/a	chr8:110610148-110610156 chr8:110610234-110610245 chr8:110610146-110610158

No.	Distal block	Cell Line	Cell type
1	chr8:110609564..110612150-chr8:110618699..110620279,2	K562	blood:
2	chr8:110605754..110608104-chr8:110608990..110611309,2	MCF-7	breast:
3	chr8:110608664..110610842-chr8:110615252..110617482,2	K562	blood:
4	chr20:49345474..49348260-chr8:110608590..110610403,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000252559	TF binding region
ENSG00000124171	Chromatin interaction
ENSG00000147642	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1892759	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2154658	0.90[ASN][1000 genomes]
rs2703374	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2703390	0.91[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	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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2703375	PKHD1L1	cis	multi-tissue	Pritchard
rs2703375	PKHD1L1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:60 , 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	chr8:110602400-110610200	Weak transcription	Brain Germinal Matrix	brain
6	chr8:110602400-110613200	Weak transcription	Psoas Muscle	Psoas
7	chr8:110602400-110615000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr8:110602600-110615200	Weak transcription	Adipose Nuclei	Adipose
9	chr8:110603200-110610400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr8:110603200-110610800	Enhancers	Primary B cells from peripheral blood	blood
11	chr8:110605800-110615200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:110606000-110615200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr8:110606200-110615400	Weak transcription	Fetal Kidney	kidney
14	chr8:110606400-110611800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr8:110606600-110610400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr8:110606600-110610800	Weak transcription	Stomach Mucosa	stomach
17	chr8:110606600-110613400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:110607000-110610400	Weak transcription	Brain Anterior Caudate	brain
19	chr8:110607000-110612800	Weak transcription	HSMM	muscle
20	chr8:110607000-110613000	Weak transcription	Brain Substantia Nigra	brain
21	chr8:110607000-110617000	Weak transcription	Hela-S3	cervix
22	chr8:110607200-110615200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr8:110607600-110615800	Enhancers	Fetal Brain Male	brain
24	chr8:110607800-110612000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr8:110607800-110615200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr8:110607800-110615200	Weak transcription	Left Ventricle	heart
27	chr8:110608000-110611600	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr8:110608000-110611800	Weak transcription	HSMMtube	muscle
29	chr8:110608000-110612000	Weak transcription	Brain Angular Gyrus	brain
30	chr8:110608000-110613000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr8:110608000-110613000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr8:110608000-110613400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr8:110608000-110615200	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr8:110608000-110615200	Weak transcription	Stomach Smooth Muscle	stomach
35	chr8:110608200-110612400	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr8:110608200-110613000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr8:110608200-110613000	Weak transcription	A549	lung
38	chr8:110608400-110610400	Weak transcription	Duodenum Mucosa	Duodenum
39	chr8:110608400-110610400	Weak transcription	Fetal Intestine Large	intestine
40	chr8:110608400-110610400	Weak transcription	Fetal Intestine Small	intestine
41	chr8:110608400-110610400	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr8:110608400-110610600	Enhancers	GM12878-XiMat	blood
43	chr8:110608400-110613000	Weak transcription	HepG2	liver
44	chr8:110608800-110613600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr8:110609000-110614200	Enhancers	Liver	Liver
46	chr8:110609200-110610000	Enhancers	Pancreas	Pancrea
47	chr8:110609200-110610800	Enhancers	NHDF-Ad	bronchial
48	chr8:110609200-110613800	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr8:110609400-110610400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr8:110609400-110610400	Enhancers	Fetal Brain Female	brain

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