Variant report

Variant	rs6793760
Chromosome Location	chr3:98624863-98624864
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SP1	chr3:98624817-98625655	HCT-116	colon:	n/a	n/a
2	EP300	chr3:98624816-98625625	SK-N-SH	brain:	n/a	n/a
3	SP1	chr3:98624823-98625650	A549	lung:	n/a	n/a
4	TCF12	chr3:98624758-98625722	A549	lung:	n/a	n/a
5	NFIC	chr3:98624820-98625566	ECC-1	luminal epithelium:	n/a	n/a
6	NFIC	chr3:98624827-98625632	SK-N-SH	brain:	n/a	n/a
7	TCF12	chr3:98624817-98625712	SK-N-SH	brain:	n/a	n/a
8	FOSL2	chr3:98624829-98625651	SK-N-SH	brain:	n/a	chr3:98625032-98625041
9	FOXM1	chr3:98624760-98625769	SK-N-SH	brain:	n/a	n/a
10	EP300	chr3:98624835-98625538	ECC-1	luminal epithelium:	n/a	n/a
11	GATA3	chr3:98624835-98625706	A549	lung:	n/a	n/a
12	GATA3	chr3:98624825-98625770	SK-N-SH	brain:	n/a	n/a
13	EP300	chr3:98624824-98625705	SK-N-SH	brain:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:98620185..98622258-chr3:98623304..98625603,3	MCF-7	breast:
2	chr3:98609933..98612061-chr3:98623742..98626335,2	K562	blood:
3	chr3:98619082..98623514-chr3:98623819..98627236,6	K562	blood:

No data

Variant related genes	Relation type
DCBLD2	TF binding region
RNU6-1263P	TF binding region
ENSG00000057019	Chromatin interaction
ENSG00000239462	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1062196	0.81[EUR][1000 genomes]
rs1440150	0.80[EUR][1000 genomes]
rs1837500	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2119187	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2279761	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2439214	0.80[EUR][1000 genomes]
rs2439217	0.81[EUR][1000 genomes]
rs2439220	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2439226	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2439229	0.84[EUR][1000 genomes]
rs2454673	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2454676	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2454677	0.83[EUR][1000 genomes]
rs2454680	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2454684	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2454691	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2470857	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2470860	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2470861	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2470864	0.84[EUR][1000 genomes]
rs2470865	0.84[EUR][1000 genomes]
rs2470867	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2470885	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28802000	0.82[EUR][1000 genomes]
rs2919236	0.84[EUR][1000 genomes]
rs34234373	0.82[EUR][1000 genomes]
rs34558202	0.83[EUR][1000 genomes]
rs6788418	0.82[EUR][1000 genomes]
rs704585	0.82[EUR][1000 genomes]
rs7612605	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7616275	0.82[EUR][1000 genomes]
rs7630800	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs828609	0.82[EUR][1000 genomes]
rs9289683	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9289685	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9820384	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9845558	0.82[EUR][1000 genomes]
rs9873932	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv591065	chr3:98204198-98766326	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv1007140	chr3:98421229-99202458	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv536663	chr3:98421229-99202458	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv877214	chr3:98445324-98738006	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1007486	chr3:98597738-99249081	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6793760	ST3GAL6	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98621400-98625000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr3:98621600-98625000	Enhancers	Muscle Satellite Cultured Cells	--
3	chr3:98621600-98625200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr3:98621600-98625400	Weak transcription	Psoas Muscle	Psoas
5	chr3:98621800-98625000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr3:98621800-98625000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr3:98621800-98625000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr3:98621800-98625000	Weak transcription	Fetal Brain Male	brain
9	chr3:98621800-98625000	Weak transcription	Hela-S3	cervix
10	chr3:98621800-98625000	Weak transcription	HSMMtube	muscle
11	chr3:98622000-98625000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr3:98622000-98625000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr3:98622000-98625200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr3:98622200-98625000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr3:98622200-98625000	Weak transcription	Fetal Lung	lung
16	chr3:98622200-98625000	Weak transcription	HMEC	breast
17	chr3:98622200-98625000	Weak transcription	HSMM	muscle
18	chr3:98622200-98625200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr3:98623000-98628000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr3:98623200-98625000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr3:98623400-98625000	Weak transcription	Osteobl	bone
22	chr3:98623600-98625000	Weak transcription	NHEK	skin
23	chr3:98623600-98636400	Weak transcription	Fetal Heart	heart
24	chr3:98623800-98625000	Enhancers	A549	lung
25	chr3:98624000-98625000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr3:98624000-98625000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr3:98624000-98625000	Weak transcription	NH-A	brain
28	chr3:98624000-98625000	Weak transcription	NHDF-Ad	bronchial
29	chr3:98624200-98625000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr3:98624600-98625000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr3:98624800-98625600	Enhancers	HUVEC	blood vessel
32	chr3:98624800-98626600	Enhancers	NHLF	lung

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