Variant report

Variant	rs12031573
Chromosome Location	chr1:81000310-81000311
allele	A/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	FOSL1	chr1:81000271-81001220	HCT-116	colon:	n/a	n/a
2	POLR2A	chr1:81000275-81000375	MCF10A-Er-Src	breast:	n/a	n/a
3	STAT3	chr1:80999975-81000537	MCF10A-Er-Src	breast:	n/a	n/a
4	CEBPB	chr1:81000182-81001093	HCT-116	colon:	n/a	n/a
5	SP1	chr1:81000174-81001213	HCT-116	colon:	n/a	n/a
6	TCF7L2	chr1:81000309-81001148	HCT-116	colon:	n/a	n/a
7	SP1	chr1:81000274-81001093	HCT-116	colon:	n/a	n/a
8	FOS	chr1:81000236-81000453	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000234184	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10493667	0.87[EUR][1000 genomes]
rs11163043	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11163045	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12024226	1.00[EUR][1000 genomes]
rs12029215	1.00[EUR][1000 genomes]
rs12032573	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12033755	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12042795	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66510130	0.97[EUR][1000 genomes]
rs66657776	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66770147	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67227460	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67458190	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67620431	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs68016857	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs68178637	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012286	chr1:80057078-81005153	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv535018	chr1:80057078-81005153	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1000792	chr1:80076146-81015283	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv546661	chr1:80656114-81156849	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv462284	chr1:80888808-81042755	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv546665	chr1:80888808-81042755	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	esv2754595	chr1:80906634-81214971	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv462295	chr1:80909417-81052058	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv546666	chr1:80909417-81052058	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv462306	chr1:80926312-81042755	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv546667	chr1:80926312-81042755	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv1008699	chr1:80950333-81008134	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv462317	chr1:80964490-81052058	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv462328	chr1:80964490-81052058	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv546668	chr1:80964490-81052058	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv871193	chr1:80970978-81056946	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv871285	chr1:80996970-81071433	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv871748	chr1:80996970-81329765	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr1:80997400-81000600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr1:80998000-81001800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:80998400-81001000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr1:80998600-81000800	Enhancers	H1 Cell Line	embryonic stem cell
5	chr1:80998600-81000800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:80998600-81001600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:80998600-81003400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr1:80998600-81003600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr1:80998600-81003600	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr1:80998800-81000800	Enhancers	Colon Smooth Muscle	Colon
11	chr1:80999200-81000600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr1:80999400-81000400	Weak transcription	HMEC	breast
13	chr1:80999400-81000600	Enhancers	Fetal Brain Male	brain
14	chr1:80999400-81000600	Enhancers	Ovary	ovary
15	chr1:80999600-81001400	Enhancers	Fetal Lung	lung
16	chr1:80999800-81000800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr1:80999800-81001200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:80999800-81001800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:80999800-81003800	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr1:81000000-81000400	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr1:81000000-81000600	Flanking Active TSS	A549	lung
22	chr1:81000000-81001000	Weak transcription	Brain Germinal Matrix	brain
23	chr1:81000000-81001400	Weak transcription	Fetal Kidney	kidney
24	chr1:81000000-81003400	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr1:81000000-81004000	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr1:81000000-81005200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:81000200-81002400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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