Variant report

Variant	rs10486800
Chromosome Location	chr7:39653425-39653426
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	FOS	chr7:39653106-39653503	MCF10A-Er-Src	breast:	n/a	n/a
2	GATA2	chr7:39653153-39653732	HUVEC	blood vessel:	n/a	chr7:39653264-39653273 chr7:39653365-39653375
3	TCF12	chr7:39652826-39653917	SK-N-SH	brain:	n/a	n/a
4	FOS	chr7:39653128-39653496	MCF10A-Er-Src	breast:	n/a	n/a
5	EP300	chr7:39652789-39653852	SK-N-SH	brain:	n/a	chr7:39653363-39653377 chr7:39653329-39653343
6	STAT3	chr7:39652959-39653566	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr7:39653193-39653631	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr7:39653359-39653432	MCF10A-Er-Src	breast:	n/a	n/a
9	EP300	chr7:39653218-39653699	SK-N-SH_RA	brain:	n/a	chr7:39653363-39653377 chr7:39653329-39653343
10	POLR2A	chr7:39653051-39653725	HUVEC	blood vessel:	n/a	n/a
11	TEAD4	chr7:39653033-39653752	SK-N-SH	brain:	n/a	n/a
12	EP300	chr7:39653204-39653662	SK-N-SH_RA	brain:	n/a	chr7:39653363-39653377 chr7:39653329-39653343
13	PBX3	chr7:39652890-39654186	SK-N-SH	brain:	n/a	n/a
14	JUND	chr7:39652921-39653819	SK-N-SH	brain:	n/a	n/a
15	TCF12	chr7:39652825-39653956	SK-N-SH	brain:	n/a	n/a
16	JUND	chr7:39652869-39653913	SK-N-SH	brain:	n/a	n/a
17	CEBPB	chr7:39653097-39653447	IMR90	lung:	n/a	n/a
18	POLR2A	chr7:39653055-39653662	SK-N-SH	brain:	n/a	n/a
19	POLR2A	chr7:39653079-39654087	HUVEC	blood vessel:	n/a	n/a
20	PBX3	chr7:39652832-39654134	SK-N-SH	brain:	n/a	n/a
21	GATA3	chr7:39652863-39653759	SK-N-SH	brain:	n/a	chr7:39653264-39653273 chr7:39653365-39653375
22	FOS	chr7:39653041-39653706	HUVEC	blood vessel:	n/a	n/a
23	MAFK	chr7:39653074-39653471	IMR90	lung:	n/a	n/a
24	STAT3	chr7:39653209-39653549	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr7:39653162-39653499	MCF10A-Er-Src	breast:	n/a	n/a
26	FOSL2	chr7:39652936-39653766	SK-N-SH	brain:	n/a	n/a
27	GATA3	chr7:39652810-39653969	SK-N-SH	brain:	n/a	chr7:39653264-39653273 chr7:39653365-39653375
28	EP300	chr7:39652977-39653810	SK-N-SH	brain:	n/a	chr7:39653363-39653377 chr7:39653329-39653343
29	GATA3	chr7:39653370-39653500	SH-SY5Y	brain:	n/a	n/a
30	FOSL2	chr7:39653034-39653639	SK-N-SH	brain:	n/a	n/a
31	NFIC	chr7:39652952-39653845	SK-N-SH	brain:	n/a	n/a
32	STAT3	chr7:39653209-39653534	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:39632294..39634662-chr7:39653376..39655988,2	K562	blood:
2	chr7:39652942..39654975-chr7:39661144..39662912,2	MCF-7	breast:
3	chr7:39638958..39641769-chr7:39651985..39654836,2	K562	blood:
4	chr7:39651686..39654390-chr7:39655088..39657553,2	K562	blood:

Variant related genes	Relation type
ENSG00000231951	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10236547	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10245247	0.83[EUR][1000 genomes]
rs10252318	1.00[YRI][hapmap]
rs10258946	0.83[EUR][1000 genomes]
rs10266149	0.83[EUR][1000 genomes]
rs10486798	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs11765134	1.00[YRI][hapmap]
rs17416652	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17507685	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17507748	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17508696	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1989533	0.88[EUR][1000 genomes]
rs2329462	1.00[CEU][hapmap]
rs2329463	1.00[CEU][hapmap]
rs4723881	0.83[EUR][1000 genomes]
rs4723882	1.00[CEU][hapmap]
rs4723883	1.00[CEU][hapmap]
rs4723884	1.00[CEU][hapmap]
rs4723885	0.81[EUR][1000 genomes]
rs6462951	1.00[YRI][hapmap]
rs6968742	1.00[CEU][hapmap]
rs7777173	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7796063	1.00[CEU][hapmap]
rs7801411	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7807233	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][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	nsv887970	chr7:39587912-39688152	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39645200-39661600	Weak transcription	A549	lung
2	chr7:39648800-39656000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:39649400-39654600	Weak transcription	Pancreas	Pancrea
4	chr7:39649600-39655400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr7:39649600-39655600	Weak transcription	HSMMtube	muscle
6	chr7:39649800-39653600	Weak transcription	HSMM	muscle
7	chr7:39649800-39655000	Weak transcription	Hela-S3	cervix
8	chr7:39649800-39655200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr7:39649800-39655200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:39649800-39655600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr7:39650000-39653600	Weak transcription	K562	blood
12	chr7:39650000-39654800	Weak transcription	Stomach Mucosa	stomach
13	chr7:39650000-39655000	Weak transcription	NHLF	lung
14	chr7:39650200-39655400	Weak transcription	HMEC	breast
15	chr7:39651400-39653600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr7:39651800-39657000	Enhancers	HUVEC	blood vessel
17	chr7:39652400-39654400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr7:39652400-39656600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr7:39652400-39656800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr7:39652600-39653800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:39652600-39654400	Enhancers	Muscle Satellite Cultured Cells	--
22	chr7:39652800-39653800	Enhancers	Osteobl	bone
23	chr7:39653200-39653800	Enhancers	NHDF-Ad	bronchial
24	chr7:39653200-39653800	Enhancers	NHEK	skin
25	chr7:39653400-39653600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr7:39653400-39653600	Enhancers	Left Ventricle	heart
27	chr7:39653400-39653800	Enhancers	NH-A	brain
28	chr7:39653400-39654200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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