Variant report

Variant	rs10486799
Chromosome Location	chr7:39653226-39653227
allele	A/C/G/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	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	EP300	chr7:39653218-39653699	SK-N-SH_RA	brain:	n/a	chr7:39653363-39653377 chr7:39653329-39653343
9	POLR2A	chr7:39653051-39653725	HUVEC	blood vessel:	n/a	n/a
10	TEAD4	chr7:39653033-39653752	SK-N-SH	brain:	n/a	n/a
11	EP300	chr7:39653204-39653662	SK-N-SH_RA	brain:	n/a	chr7:39653363-39653377 chr7:39653329-39653343
12	PBX3	chr7:39652890-39654186	SK-N-SH	brain:	n/a	n/a
13	JUND	chr7:39652921-39653819	SK-N-SH	brain:	n/a	n/a
14	TCF12	chr7:39652825-39653956	SK-N-SH	brain:	n/a	n/a
15	JUND	chr7:39652869-39653913	SK-N-SH	brain:	n/a	n/a
16	CEBPB	chr7:39653097-39653447	IMR90	lung:	n/a	n/a
17	POLR2A	chr7:39653117-39653344	MCF10A-Er-Src	breast:	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	FOSL2	chr7:39653034-39653639	SK-N-SH	brain:	n/a	n/a
30	NFIC	chr7:39652952-39653845	SK-N-SH	brain:	n/a	n/a
31	STAT3	chr7:39653209-39653534	MCF10A-Er-Src	breast:	n/a	n/a

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

Variant related genes	Relation type
ENSG00000231951	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10232859	1.00[CHB][hapmap];0.86[CHD][hapmap];0.87[ASN][1000 genomes]
rs10262131	1.00[CHB][hapmap];0.84[JPT][hapmap];0.87[ASN][1000 genomes]
rs1051162	1.00[CHB][hapmap];0.90[CHD][hapmap];0.84[JPT][hapmap];0.87[ASN][1000 genomes]
rs11981810	0.87[ASN][1000 genomes]
rs17171592	1.00[CHB][hapmap];0.90[CHD][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs17171599	0.90[ASN][1000 genomes]
rs17171601	0.90[ASN][1000 genomes]
rs17171616	1.00[GIH][hapmap]
rs17416875	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[AFR][1000 genomes]
rs17507811	1.00[AFR][1000 genomes]
rs17509194	1.00[ASW][hapmap];1.00[AFR][1000 genomes]
rs17713701	0.84[ASN][1000 genomes]
rs17714026	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17714061	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.82[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17770744	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2288744	1.00[CHB][hapmap];0.90[CHD][hapmap];0.84[JPT][hapmap];0.90[ASN][1000 genomes]
rs2876861	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2971	1.00[CHB][hapmap];0.84[JPT][hapmap];0.87[ASN][1000 genomes]
rs35586222	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3779203	1.00[GIH][hapmap];1.00[AFR][1000 genomes]
rs59818431	0.90[ASN][1000 genomes]
rs60942815	0.90[ASN][1000 genomes]
rs6947660	1.00[CHB][hapmap];0.90[CHD][hapmap];0.84[JPT][hapmap];0.87[ASN][1000 genomes]
rs6973403	1.00[CHB][hapmap];0.90[CHD][hapmap];0.84[JPT][hapmap];0.90[ASN][1000 genomes]
rs6978059	0.90[ASN][1000 genomes]
rs73375667	0.87[ASN][1000 genomes]
rs73375682	0.90[ASN][1000 genomes]
rs73375684	0.90[ASN][1000 genomes]
rs73375686	0.90[ASN][1000 genomes]
rs7790984	0.87[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	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:27 , 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	chr7:39649600-39653400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr7:39649600-39655400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr7:39649600-39655600	Weak transcription	HSMMtube	muscle
7	chr7:39649800-39653600	Weak transcription	HSMM	muscle
8	chr7:39649800-39655000	Weak transcription	Hela-S3	cervix
9	chr7:39649800-39655200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:39649800-39655200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:39649800-39655600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr7:39650000-39653400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr7:39650000-39653400	Weak transcription	NH-A	brain
14	chr7:39650000-39653600	Weak transcription	K562	blood
15	chr7:39650000-39654800	Weak transcription	Stomach Mucosa	stomach
16	chr7:39650000-39655000	Weak transcription	NHLF	lung
17	chr7:39650200-39655400	Weak transcription	HMEC	breast
18	chr7:39651400-39653600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr7:39651800-39657000	Enhancers	HUVEC	blood vessel
20	chr7:39652400-39654400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr7:39652400-39656600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr7:39652400-39656800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr7:39652600-39653800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:39652600-39654400	Enhancers	Muscle Satellite Cultured Cells	--
25	chr7:39652800-39653800	Enhancers	Osteobl	bone
26	chr7:39653200-39653800	Enhancers	NHDF-Ad	bronchial
27	chr7:39653200-39653800	Enhancers	NHEK	skin

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