Variant report

Variant	rs6768072
Chromosome Location	chr3:112373318-112373319
allele	C/G
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	SP1	chr3:112371695-112373412	A549	lung:	n/a	chr3:112372883-112372904 chr3:112373077-112373091
2	EP300	chr3:112371809-112373383	A549	lung:	n/a	chr3:112372992-112373008 chr3:112372423-112372437 chr3:112373304-112373313 chr3:112373164-112373178
3	RXRA	chr3:112372238-112373385	SK-N-SH	brain:	n/a	n/a
4	EP300	chr3:112372106-112373929	SK-N-SH	brain:	n/a	chr3:112372992-112373008 chr3:112372423-112372437 chr3:112373304-112373313 chr3:112373164-112373178
5	TCF12	chr3:112372133-112374204	SK-N-SH	brain:	n/a	n/a
6	JUND	chr3:112372239-112373952	SK-N-SH	brain:	n/a	chr3:112372365-112372374
7	FOSL2	chr3:112371751-112373413	A549	lung:	n/a	chr3:112372365-112372374
8	EP300	chr3:112372104-112373481	SK-N-SH	brain:	n/a	chr3:112372992-112373008 chr3:112372423-112372437 chr3:112373304-112373313 chr3:112373164-112373178
9	MAX	chr3:112371779-112373349	A549	lung:	n/a	n/a
10	TCF12	chr3:112371646-112373440	A549	lung:	n/a	n/a
11	JUND	chr3:112372205-112373728	SK-N-SH	brain:	n/a	chr3:112372365-112372374
12	POLR2A	chr3:112372081-112373383	U87	brain:	n/a	n/a
13	TCF12	chr3:112372119-112373418	SK-N-SH	brain:	n/a	n/a
14	SP1	chr3:112371764-112373387	A549	lung:	n/a	chr3:112372883-112372904 chr3:112373077-112373091
15	MAZ	chr3:112371602-112373415	IMR90	lung:	n/a	n/a
16	NFIC	chr3:112372137-112373467	SK-N-SH	brain:	n/a	n/a
17	RAD21	chr3:112371842-112373469	A549	lung:	n/a	n/a
18	GATA3	chr3:112372005-112373875	SK-N-SH	brain:	n/a	chr3:112372931-112372939
19	TEAD4	chr3:112372122-112373475	SK-N-SH	brain:	n/a	n/a
20	RAD21	chr3:112372196-112373385	A549	lung:	n/a	n/a
21	E2F6	chr3:112372029-112373369	A549	lung:	n/a	chr3:112372894-112372903
22	GATA3	chr3:112372147-112373468	SK-N-SH	brain:	n/a	chr3:112372931-112372939
23	TEAD4	chr3:112371903-112373379	A549	lung:	n/a	n/a
24	POLR2A	chr3:112371920-112373863	IMR90	lung:	n/a	n/a
25	EP300	chr3:112371640-112373482	A549	lung:	n/a	chr3:112372992-112373008 chr3:112372423-112372437 chr3:112371770-112371778 chr3:112373304-112373313 chr3:112373164-112373178
26	JUND	chr3:112372234-112373395	SK-N-SH	brain:	n/a	chr3:112372365-112372374
27	GATA3	chr3:112371663-112373493	A549	lung:	n/a	chr3:112371854-112371865 chr3:112372931-112372939
28	CEBPB	chr3:112371823-112373358	A549	lung:	n/a	chr3:112372894-112372902 chr3:112373248-112373260
29	PBX3	chr3:112372261-112373877	SK-N-SH	brain:	n/a	chr3:112372893-112372902
30	GATA3	chr3:112373206-112373395	SH-SY5Y	brain:	n/a	n/a
31	MAX	chr3:112371693-112374096	A549	lung:	n/a	n/a
32	PBX3	chr3:112372271-112373828	SK-N-SH	brain:	n/a	chr3:112372893-112372902
33	SIX5	chr3:112372014-112373418	A549	lung:	n/a	n/a
34	FOS	chr3:112372408-112373524	MCF10A-Er-Src	breast:	n/a	n/a
35	TEAD4	chr3:112371989-112373332	A549	lung:	n/a	n/a
36	FOSL2	chr3:112372196-112373845	SK-N-SH	brain:	n/a	chr3:112372365-112372374

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:112363786..112368966-chr3:112369502..112375118,11	MCF-7	breast:
2	chr3:112362097..112368318-chr3:112369170..112375638,8	MCF-7	breast:

Variant related genes	Relation type
CCDC80	TF binding region
ENSG00000091986	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11927615	0.84[CEU][hapmap]
rs1249910	0.80[CEU][hapmap]
rs2399449	0.87[AMR][1000 genomes]
rs28374264	0.90[AMR][1000 genomes]
rs4145150	0.87[AMR][1000 genomes]
rs4145151	0.87[AMR][1000 genomes]
rs55894063	0.87[AMR][1000 genomes]
rs56302621	0.92[AMR][1000 genomes]
rs57211180	0.85[AMR][1000 genomes]
rs58013646	0.84[AMR][1000 genomes]
rs6772102	0.87[AMR][1000 genomes]
rs6772337	0.88[ASN][1000 genomes]
rs6793555	0.87[AMR][1000 genomes]
rs7630314	0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9683135	0.80[CEU][hapmap]
rs9818848	0.85[CEU][hapmap]
rs9821100	0.80[CEU][hapmap]
rs9845240	0.80[CEU][hapmap];0.89[AMR][1000 genomes]
rs9864580	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9864774	0.80[ASN][1000 genomes]
rs9870933	0.81[AMR][1000 genomes];0.90[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	esv3329419	chr3:112236688-112620544	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6768072	C3orf17	cis	Heart Left Ventricle	GTEx

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112363400-112373600	Weak transcription	Esophagus	oesophagus
2	chr3:112366400-112373800	Weak transcription	Colon Smooth Muscle	Colon
3	chr3:112367000-112373800	Enhancers	HSMM	muscle
4	chr3:112368000-112375000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:112368200-112375200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr3:112368600-112373600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr3:112371400-112375200	Enhancers	HMEC	breast
8	chr3:112371600-112374000	Flanking Active TSS	A549	lung
9	chr3:112371800-112373400	Enhancers	NHLF	lung
10	chr3:112371800-112373600	Enhancers	NH-A	brain
11	chr3:112371800-112374000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr3:112371800-112374000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr3:112371800-112374000	Enhancers	Placenta	Placenta
14	chr3:112371800-112375000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr3:112372000-112375000	Enhancers	Fetal Lung	lung
16	chr3:112372200-112373400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr3:112372400-112373800	Enhancers	Fetal Muscle Leg	muscle
18	chr3:112372400-112374000	Enhancers	Ovary	ovary
19	chr3:112372400-112380600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr3:112372600-112373400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr3:112372600-112374000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr3:112372800-112373400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr3:112372800-112374000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr3:112372800-112374000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr3:112372800-112374000	Flanking Active TSS	Osteobl	bone
26	chr3:112373000-112374600	Enhancers	HSMMtube	muscle
27	chr3:112373200-112373400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr3:112373200-112373800	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr3:112373200-112373800	Flanking Active TSS	NHDF-Ad	bronchial
30	chr3:112373200-112374200	Weak transcription	Fetal Stomach	stomach
31	chr3:112373200-112374200	Enhancers	NHEK	skin
32	chr3:112373200-112374800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr3:112373200-112375200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr3:112373200-112375200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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