Variant report

Variant	rs7532908
Chromosome Location	chr1:103577651-103577652
allele	C/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	TCF12	chr1:103577390-103577923	SK-N-SH	brain:	n/a	n/a
2	JUND	chr1:103577347-103577876	SK-N-SH	brain:	n/a	chr1:103577617-103577626
3	FOSL2	chr1:103577414-103577888	SK-N-SH	brain:	n/a	chr1:103577617-103577626
4	GATA3	chr1:103577388-103577906	SK-N-SH	brain:	n/a	chr1:103577569-103577577 chr1:103577616-103577626
5	FOS	chr1:103577495-103577689	MCF10A-Er-Src	breast:	n/a	chr1:103577617-103577626

Variant related genes	Relation type
COL11A1	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11164670	0.85[YRI][hapmap]
rs11164675	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12077692	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12354142	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17127492	0.84[YRI][hapmap];0.82[AFR][1000 genomes]
rs17127502	0.85[YRI][hapmap];0.82[AFR][1000 genomes]
rs6674315	0.93[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522922	chr1:103305021-103764640	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830893	chr1:103458498-103635579	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv931600	chr1:103548397-104161031	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv498007	chr1:103573857-104107589	Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:103574600-103577800	Weak transcription	HSMMtube	muscle
2	chr1:103574600-103578400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:103575200-103577800	Weak transcription	A549	lung
4	chr1:103575200-103578200	Enhancers	Hela-S3	cervix
5	chr1:103575200-103578400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:103575200-103578600	Enhancers	HSMM	muscle
7	chr1:103575200-103579600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:103575800-103578600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:103575800-103578600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:103576200-103578400	Enhancers	HMEC	breast
11	chr1:103576400-103578000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr1:103576800-103578000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr1:103577200-103578400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:103577200-103579200	Enhancers	Muscle Satellite Cultured Cells	--
15	chr1:103577400-103578400	Enhancers	HUVEC	blood vessel
16	chr1:103577600-103577800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:103577600-103578000	Enhancers	NHEK	skin
18	chr1:103577600-103578200	Enhancers	NH-A	brain
19	chr1:103577600-103578600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:103577600-103578600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:103577600-103578600	Enhancers	Osteobl	bone

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