Variant report

Variant	rs2703383
Chromosome Location	chr8:110624272-110624273
allele	C/T
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	KAP1	chr8:110622433-110624888	HEK293	kidney:	n/a	n/a
2	TCF7L2	chr8:110623368-110624500	PANC-1	pancreas:	n/a	chr8:110624263-110624270
3	TCF7L2	chr8:110623147-110624751	HEK293	kidney:	n/a	chr8:110624263-110624270

No.	Distal block	Cell Line	Cell type
1	chr8:110615659..110617525-chr8:110621705..110624806,3	K562	blood:
2	chr8:110623120..110625738-chr8:110638135..110640971,2	K562	blood:
3	chr8:110618290..110622116-chr8:110622585..110627832,7	MCF-7	breast:

Variant related genes	Relation type
SYBU	TF binding region
ENSG00000147642	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10100734	0.86[EUR][1000 genomes]
rs13253969	0.85[ASN][1000 genomes]
rs13254530	0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs13254967	0.85[ASN][1000 genomes]
rs13270118	0.83[EUR][1000 genomes]
rs16879844	0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1892758	0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1954713	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1954714	0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2022930	0.89[CEU][hapmap];0.86[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2154656	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2154658	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs2236627	0.82[MEX][hapmap];0.94[TSI][hapmap];0.85[EUR][1000 genomes]
rs2703379	0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2703380	0.84[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2703381	0.85[ASN][1000 genomes]
rs2703390	0.85[EUR][1000 genomes]
rs2703391	0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2844238	0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2844239	0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2844240	0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2844241	0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2844242	0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2844243	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2844244	0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2844245	0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2844246	0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2844247	0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2844248	0.85[ASN][1000 genomes]
rs2844249	0.86[ASN][1000 genomes]
rs2844250	0.89[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3108830	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3108834	0.83[EUR][1000 genomes]
rs3108835	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3108836	0.83[EUR][1000 genomes]
rs3108841	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3108855	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs3108867	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3133920	0.86[EUR][1000 genomes]
rs3133923	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3133931	0.83[EUR][1000 genomes]
rs3133932	0.83[EUR][1000 genomes]
rs3133933	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs3133938	0.81[EUR][1000 genomes]
rs3133939	0.81[EUR][1000 genomes]
rs3134316	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3134318	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3134326	0.86[EUR][1000 genomes]
rs3134328	0.86[EUR][1000 genomes]
rs3134329	0.86[EUR][1000 genomes]
rs3134332	0.82[EUR][1000 genomes]
rs3134333	0.81[EUR][1000 genomes]
rs3134335	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3134336	0.81[EUR][1000 genomes]
rs3134337	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs3134338	0.89[CEU][hapmap];0.81[GIH][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs3134342	0.82[EUR][1000 genomes]
rs34147744	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34649979	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35642643	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4367512	0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs61152293	0.85[ASN][1000 genomes]
rs6469270	0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6469271	0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6469272	0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6469273	0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6469274	0.89[CEU][hapmap];0.80[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6982034	0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6994349	0.85[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7003380	0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7003744	0.84[ASN][1000 genomes]
rs71526740	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7813979	0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7825702	0.85[ASN][1000 genomes]
rs9656885	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs2703383	PKHD1L1	cis	lymphoblastoid	seeQTL
rs2703383	SYBU	cis	cerebellum	SCAN
rs2703383	PKHD1L1	cis	multi-tissue	Pritchard
rs2703383	EIF3E	cis	parietal	SCAN
rs2703383	PKHD1L1	Cis_1M	lymphoblastoid	RTeQTL
rs2703383	TRHR	cis	parietal	SCAN
rs2703383	SYBU	cis	parietal	SCAN

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110590200-110654800	Weak transcription	Lung	lung
2	chr8:110617200-110625800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:110617200-110626600	Weak transcription	Right Atrium	heart
4	chr8:110617400-110632800	Weak transcription	Gastric	stomach
5	chr8:110617800-110632800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr8:110618400-110625400	Weak transcription	GM12878-XiMat	blood
7	chr8:110620400-110626000	Weak transcription	Brain Angular Gyrus	brain
8	chr8:110620400-110631000	Weak transcription	Pancreas	Pancrea
9	chr8:110620400-110632200	Weak transcription	HMEC	breast
10	chr8:110620400-110632800	Weak transcription	Brain Substantia Nigra	brain
11	chr8:110620400-110651200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:110620400-110654800	Weak transcription	Esophagus	oesophagus
13	chr8:110620800-110625800	Weak transcription	Brain Anterior Caudate	brain
14	chr8:110621000-110625800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr8:110621200-110654800	Weak transcription	Fetal Brain Female	brain
16	chr8:110621600-110625800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:110622200-110624800	Enhancers	Fetal Intestine Large	intestine
18	chr8:110622200-110625000	Enhancers	Fetal Intestine Small	intestine
19	chr8:110622200-110632000	Strong transcription	Liver	Liver
20	chr8:110622600-110624600	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr8:110622600-110635200	Weak transcription	Fetal Brain Male	brain
22	chr8:110622800-110624400	Enhancers	Hela-S3	cervix
23	chr8:110622800-110624800	Enhancers	Duodenum Mucosa	Duodenum
24	chr8:110622800-110628000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr8:110623000-110625000	Enhancers	Ovary	ovary
26	chr8:110623000-110637800	Weak transcription	Left Ventricle	heart
27	chr8:110623200-110624600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr8:110623200-110625800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr8:110623200-110628800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr8:110623200-110629400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr8:110623400-110625400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr8:110623400-110627000	Weak transcription	Stomach Smooth Muscle	stomach
33	chr8:110623400-110635200	Weak transcription	Small Intestine	intestine
34	chr8:110623400-110655000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr8:110623600-110626000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr8:110623600-110626000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr8:110623600-110626000	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr8:110623600-110626000	Weak transcription	HepG2	liver
39	chr8:110623600-110626200	Weak transcription	Colon Smooth Muscle	Colon
40	chr8:110623600-110626400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr8:110623600-110632800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr8:110623800-110626000	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr8:110623800-110627000	Weak transcription	NHEK	skin
44	chr8:110624000-110625600	Weak transcription	Fetal Kidney	kidney
45	chr8:110624000-110628600	Weak transcription	Adipose Nuclei	Adipose
46	chr8:110624200-110634600	Weak transcription	Rectal Mucosa Donor 29	rectum

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