Variant report

Variant	rs9344002
Chromosome Location	chr6:81148579-81148580
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:56)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:56 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr6:81148371-81148901	MCF10A-Er-Src	breast:	n/a	n/a
2	E2F4	chr6:81148445-81148936	MCF10A-Er-Src	breast:	n/a	n/a
3	JUND	chr6:81148341-81148981	HCT-116	colon:	n/a	n/a
4	FOSL2	chr6:81148462-81148868	SK-N-SH	brain:	n/a	n/a
5	FOS	chr6:81148466-81148860	Hela-S3	cervix:	n/a	n/a
6	TEAD4	chr6:81148501-81148862	HCT-116	colon:	n/a	n/a
7	STAT3	chr6:81148430-81148838	Hela-S3	cervix:	n/a	n/a
8	EP300	chr6:81148481-81148853	SK-N-SH_RA	brain:	n/a	n/a
9	PBX3	chr6:81148451-81149047	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr6:81148448-81148873	SK-N-SH	brain:	n/a	n/a
11	CEBPB	chr6:81148341-81148927	HCT-116	colon:	n/a	n/a
12	RCOR1	chr6:81148445-81148836	Hela-S3	cervix:	n/a	n/a
13	JUN	chr6:81148462-81148976	Hela-S3	cervix:	n/a	n/a
14	STAT3	chr6:81148436-81148841	MCF10A-Er-Src	breast:	n/a	n/a
15	JUND	chr6:81148417-81148877	Hela-S3	cervix:	n/a	n/a
16	FOS	chr6:81148407-81148902	MCF10A-Er-Src	breast:	n/a	n/a
17	CHD2	chr6:81148420-81148875	Hela-S3	cervix:	n/a	n/a
18	MAFK	chr6:81148509-81148834	IMR90	lung:	n/a	n/a
19	GATA3	chr6:81148289-81149065	SK-N-SH	brain:	n/a	n/a
20	FOS	chr6:81148466-81148841	MCF10A-Er-Src	breast:	n/a	n/a
21	EP300	chr6:81148371-81148998	ECC-1	luminal epithelium:	n/a	n/a
22	FOS	chr6:81148418-81148903	HUVEC	blood vessel:	n/a	n/a
23	FOS	chr6:81148438-81148847	MCF10A-Er-Src	breast:	n/a	n/a
24	STAT3	chr6:81148437-81148811	MCF10A-Er-Src	breast:	n/a	n/a
25	SP1	chr6:81148289-81148997	HCT-116	colon:	n/a	n/a
26	RAD21	chr6:81148432-81148955	Hela-S3	cervix:	n/a	n/a
27	USF2	chr6:81148505-81148831	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr6:81148400-81148771	HCT-116	colon:	n/a	n/a
29	GABPA	chr6:81148482-81148779	Hela-S3	cervix:	n/a	n/a
30	FOS	chr6:81148379-81148903	MCF10A-Er-Src	breast:	n/a	n/a
31	NFIC	chr6:81148308-81149149	SK-N-SH	brain:	n/a	n/a
32	TEAD4	chr6:81148469-81148910	ECC-1	luminal epithelium:	n/a	n/a
33	EP300	chr6:81148400-81148835	Hela-S3	cervix:	n/a	n/a
34	PBX3	chr6:81148375-81148969	SK-N-SH	brain:	n/a	n/a
35	FOSL2	chr6:81148305-81148950	SK-N-SH	brain:	n/a	n/a
36	ELK4	chr6:81148472-81148868	Hela-S3	cervix:	n/a	chr6:81148598-81148609
37	CEBPB	chr6:81148438-81148748	A549	lung:	n/a	n/a
38	POLR2A	chr6:81148303-81148731	MCF10A-Er-Src	breast:	n/a	n/a
39	NFIC	chr6:81148474-81148889	ECC-1	luminal epithelium:	n/a	n/a
40	TEAD4	chr6:81148335-81149065	SK-N-SH	brain:	n/a	n/a
41	EP300	chr6:81148415-81148920	SK-N-SH	brain:	n/a	n/a
42	POLR2A	chr6:81148464-81148715	MCF10A-Er-Src	breast:	n/a	n/a
43	GATA3	chr6:81148376-81149028	SK-N-SH	brain:	n/a	n/a
44	SP1	chr6:81148491-81148799	A549	lung:	n/a	n/a
45	CEBPB	chr6:81148384-81148902	Hela-S3	cervix:	n/a	n/a
46	TEAD4	chr6:81148352-81148953	ECC-1	luminal epithelium:	n/a	n/a
47	EP300	chr6:81148486-81148866	SK-N-SH_RA	brain:	n/a	n/a
48	CEBPB	chr6:81148399-81148788	IMR90	lung:	n/a	n/a
49	MYC	chr6:81148439-81148751	MCF10A-Er-Src	breast:	n/a	n/a
50	FOSL1	chr6:81148375-81149019	HCT-116	colon:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000233967	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1115232	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11754109	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11754801	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11754815	0.89[CEU][hapmap];0.88[CHB][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12055682	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13437027	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17810414	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1812698	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2217941	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56976043	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs58228181	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7738642	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7742949	0.83[EUR][1000 genomes]
rs7765467	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9344003	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9344004	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9344005	0.89[CEU][hapmap];0.85[CHB][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9350859	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9352835	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9352839	0.80[CEU][hapmap];0.85[CHB][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9361615	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9361621	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs983209	0.85[EUR][1000 genomes]
rs983211	0.83[AMR][1000 genomes];0.94[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	nsv1034096	chr6:80856135-81150170	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv531333	chr6:81042427-81836484	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1019670	chr6:81086504-81569984	ZNF genes & repeats Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv915714	chr6:81134888-81366749	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1018028	chr6:81138011-81201697	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:81142400-81163800	Weak transcription	Ovary	ovary
2	chr6:81143400-81156000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:81143600-81152400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr6:81143600-81155600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:81145000-81149400	Weak transcription	HepG2	liver
6	chr6:81146400-81149400	Enhancers	Osteobl	bone
7	chr6:81146400-81149800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr6:81146400-81150000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:81146600-81156000	Weak transcription	Pancreas	Pancrea
10	chr6:81147000-81149000	Enhancers	NHLF	lung
11	chr6:81147000-81150400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr6:81147000-81150600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr6:81147000-81150600	Enhancers	NH-A	brain
14	chr6:81147000-81150800	Enhancers	NHEK	skin
15	chr6:81147200-81149200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:81147200-81150000	Enhancers	NHDF-Ad	bronchial
17	chr6:81147400-81150800	Enhancers	HUVEC	blood vessel
18	chr6:81147600-81149000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr6:81147600-81149200	Enhancers	Brain Germinal Matrix	brain
20	chr6:81147600-81150200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr6:81147600-81150800	Enhancers	Hela-S3	cervix
22	chr6:81147800-81148800	Enhancers	HSMMtube	muscle
23	chr6:81147800-81149000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr6:81147800-81149000	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr6:81147800-81150800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr6:81147800-81151000	Enhancers	HMEC	breast
27	chr6:81148000-81148800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr6:81148000-81149000	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr6:81148000-81150800	Enhancers	HSMM	muscle
30	chr6:81148400-81149000	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr6:81148400-81149000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr6:81148400-81149000	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr6:81148400-81149000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr6:81148400-81149200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr6:81148400-81150200	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr6:81148400-81150200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr6:81148400-81150600	Enhancers	Cortex derived primary cultured neurospheres	brain

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