Variant report

Variant	rs17808107
Chromosome Location	chr12:10335844-10335845
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	E2F4	chr12:10335358-10335904	MCF10A-Er-Src	breast:	n/a	n/a
2	MAFK	chr12:10335239-10335856	Hela-S3	cervix:	n/a	n/a
3	RFX5	chr12:10334957-10336004	Hela-S3	cervix:	n/a	n/a
4	TCF7L2	chr12:10335245-10335924	Hela-S3	cervix:	n/a	chr12:10335640-10335656 chr12:10335644-10335653 chr12:10335643-10335652 chr12:10335641-10335655 chr12:10335493-10335502 chr12:10335640-10335656 chr12:10335494-10335503

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:10335844..10336344-chr19:9434455..9435004,2	MCF-7	breast:
2	chr12:10334882..10336740-chr12:10339192..10340693,2	K562	blood:

Variant related genes	Relation type
TMEM52B	TF binding region
ENSG00000188321	Chromatin interaction
ENSG00000270011	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17808113	0.94[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17808125	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];0.83[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4763454	0.87[CEU][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs57922269	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs612593	1.00[CHD][hapmap]
rs73056040	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73056073	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73057956	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7975181	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7976707	1.00[CHD][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	nsv898757	chr12:10229281-10614641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17808107	TAS2R14	cis	parietal	SCAN
rs17808107	C12orf33	cis	cerebellum	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10329600-10339000	Weak transcription	Fetal Intestine Large	intestine
2	chr12:10331800-10336600	Weak transcription	Fetal Stomach	stomach
3	chr12:10332800-10337000	Weak transcription	Fetal Intestine Small	intestine
4	chr12:10333200-10336600	Weak transcription	Placenta	Placenta
5	chr12:10333400-10337200	Enhancers	Hela-S3	cervix
6	chr12:10334000-10337000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr12:10334600-10336000	Enhancers	NHEK	skin
8	chr12:10334600-10336200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:10334600-10336800	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr12:10334600-10336800	Enhancers	NHLF	lung
11	chr12:10334600-10340200	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr12:10334800-10336000	Enhancers	Muscle Satellite Cultured Cells	--
13	chr12:10334800-10336000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr12:10334800-10336000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:10334800-10336000	Enhancers	HMEC	breast
16	chr12:10334800-10336200	Enhancers	Osteobl	bone
17	chr12:10334800-10337200	Enhancers	NHDF-Ad	bronchial
18	chr12:10334800-10339000	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr12:10335000-10336000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr12:10335000-10336000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:10335000-10336800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr12:10335200-10337000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr12:10335600-10336400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr12:10335600-10337000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr12:10335800-10336800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr12:10335800-10336800	Weak transcription	Fetal Lung	lung
27	chr12:10335800-10337200	Weak transcription	A549	lung

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