Variant report

Variant	rs16879807
Chromosome Location	chr8:110623853-110623854
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	TEAD4	chr8:110623436-110623868	K562	blood:	n/a	n/a
3	GATA3	chr8:110623217-110623983	SK-N-SH	brain:	n/a	chr8:110623727-110623744
4	TCF12	chr8:110623127-110623862	SK-N-SH	brain:	n/a	n/a
5	TEAD4	chr8:110623438-110623886	K562	blood:	n/a	n/a
6	SP1	chr8:110623150-110623865	HCT-116	colon:	n/a	n/a
7	MYC	chr8:110623016-110623874	Hela-S3	cervix:	n/a	n/a
8	GATA2	chr8:110622713-110623898	SH-SY5Y	brain:	n/a	chr8:110623727-110623744
9	TCF7L2	chr8:110623368-110624500	PANC-1	pancreas:	n/a	chr8:110624263-110624270
10	TAL1	chr8:110623511-110623885	K562	blood:	n/a	chr8:110623727-110623745
11	EP300	chr8:110622848-110624213	SK-N-SH	brain:	n/a	chr8:110623593-110623601
12	TCF7L2	chr8:110623147-110624751	HEK293	kidney:	n/a	chr8:110624263-110624270
13	EP300	chr8:110623143-110623922	SK-N-SH_RA	brain:	n/a	chr8:110623593-110623601
14	KAP1	chr8:110622784-110624262	U2OS	brain:	n/a	n/a
15	EP300	chr8:110623059-110623935	SK-N-SH_RA	brain:	n/a	chr8:110623593-110623601
16	GATA3	chr8:110623208-110623902	SH-SY5Y	brain:	n/a	chr8:110623727-110623744

No.	Distal block	Cell Line	Cell type
1	chr8:110619630..110621683-chr8:110622030..110624144,3	MCF-7	breast:
2	chr8:110616434..110618096-chr8:110622411..110624046,2	MCF-7	breast:
3	chr8:110615659..110617525-chr8:110621705..110624806,3	K562	blood:
4	chr8:110623120..110625738-chr8:110638135..110640971,2	K562	blood:
5	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: 20 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10092211	1.00[CEU][hapmap]
rs10092626	1.00[CEU][hapmap]
rs10096439	1.00[CEU][hapmap]
rs10098728	1.00[CEU][hapmap]
rs10105594	1.00[CEU][hapmap]
rs10105602	1.00[CEU][hapmap]
rs10107091	1.00[CEU][hapmap];1.00[MEX][hapmap]
rs10111721	1.00[CEU][hapmap]
rs11987659	1.00[CEU][hapmap]
rs11988264	1.00[CEU][hapmap]
rs16879840	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16879862	1.00[CEU][hapmap]
rs16879869	1.00[CEU][hapmap]
rs2168677	1.00[CEU][hapmap]
rs4506181	1.00[CEU][hapmap]
rs57962861	0.82[ASN][1000 genomes]
rs7841022	1.00[CEU][hapmap]
rs9297431	1.00[CEU][hapmap]
rs9774677	1.00[CEU][hapmap]

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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16879807	KCNV1	cis	lymphoblastoid	seeQTL

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110590200-110654800	Weak transcription	Lung	lung
2	chr8:110612200-110624200	Weak transcription	Aorta	Aorta
3	chr8:110617200-110625800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:110617200-110626600	Weak transcription	Right Atrium	heart
5	chr8:110617400-110632800	Weak transcription	Gastric	stomach
6	chr8:110617800-110632800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr8:110618400-110625400	Weak transcription	GM12878-XiMat	blood
8	chr8:110620400-110626000	Weak transcription	Brain Angular Gyrus	brain
9	chr8:110620400-110631000	Weak transcription	Pancreas	Pancrea
10	chr8:110620400-110632200	Weak transcription	HMEC	breast
11	chr8:110620400-110632800	Weak transcription	Brain Substantia Nigra	brain
12	chr8:110620400-110651200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:110620400-110654800	Weak transcription	Esophagus	oesophagus
14	chr8:110620800-110625800	Weak transcription	Brain Anterior Caudate	brain
15	chr8:110621000-110625800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr8:110621200-110654800	Weak transcription	Fetal Brain Female	brain
17	chr8:110621600-110625800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:110622200-110624800	Enhancers	Fetal Intestine Large	intestine
19	chr8:110622200-110625000	Enhancers	Fetal Intestine Small	intestine
20	chr8:110622200-110632000	Strong transcription	Liver	Liver
21	chr8:110622600-110624000	Enhancers	Fetal Kidney	kidney
22	chr8:110622600-110624600	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr8:110622600-110635200	Weak transcription	Fetal Brain Male	brain
24	chr8:110622800-110624200	Enhancers	K562	blood
25	chr8:110622800-110624400	Enhancers	Hela-S3	cervix
26	chr8:110622800-110624800	Enhancers	Duodenum Mucosa	Duodenum
27	chr8:110622800-110628000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr8:110623000-110624000	Enhancers	Muscle Satellite Cultured Cells	--
29	chr8:110623000-110624000	Enhancers	Adipose Nuclei	Adipose
30	chr8:110623000-110624200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr8:110623000-110624200	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr8:110623000-110625000	Enhancers	Ovary	ovary
33	chr8:110623000-110637800	Weak transcription	Left Ventricle	heart
34	chr8:110623200-110624000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr8:110623200-110624600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr8:110623200-110625800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr8:110623200-110628800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr8:110623200-110629400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr8:110623400-110625400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr8:110623400-110627000	Weak transcription	Stomach Smooth Muscle	stomach
41	chr8:110623400-110635200	Weak transcription	Small Intestine	intestine
42	chr8:110623400-110655000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr8:110623600-110626000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr8:110623600-110626000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr8:110623600-110626000	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr8:110623600-110626000	Weak transcription	HepG2	liver
47	chr8:110623600-110626200	Weak transcription	Colon Smooth Muscle	Colon
48	chr8:110623600-110626400	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr8:110623600-110632800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr8:110623800-110626000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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