Variant report

Variant	rs10485077
Chromosome Location	chr6:55742442-55742443
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	CEBPB	chr6:55742072-55742541	Hela-S3	cervix:	n/a	chr6:55742279-55742290
2	STAT3	chr6:55742219-55742482	MCF10A-Er-Src	breast:	n/a	chr6:55742349-55742358 chr6:55742350-55742359

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:55739231..55741136-chr6:55741907..55744322,2	MCF-7	breast:

Variant related genes	Relation type
BMP5	TF binding region
ENSG00000112175	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10456719	1.00[ASN][1000 genomes]
rs10485078	0.87[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10948958	1.00[ASN][1000 genomes]
rs1156708	1.00[ASN][1000 genomes]
rs12193956	1.00[ASN][1000 genomes]
rs12198673	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12200110	1.00[ASN][1000 genomes]
rs12200716	1.00[ASN][1000 genomes]
rs12201469	1.00[ASN][1000 genomes]
rs12207141	1.00[ASN][1000 genomes]
rs12209452	1.00[ASN][1000 genomes]
rs12210933	1.00[ASN][1000 genomes]
rs12211939	1.00[ASN][1000 genomes]
rs12216252	1.00[ASN][1000 genomes]
rs12374653	1.00[ASN][1000 genomes]
rs16887121	1.00[CHD][hapmap]
rs16887128	1.00[CHD][hapmap]
rs16887237	1.00[CHD][hapmap]
rs16887302	1.00[CHD][hapmap]
rs2023580	1.00[ASN][1000 genomes]
rs2843544	1.00[ASN][1000 genomes]
rs28452747	1.00[ASN][1000 genomes]
rs2894828	1.00[ASN][1000 genomes]
rs6931132	1.00[ASN][1000 genomes]
rs7751644	1.00[ASN][1000 genomes]
rs7754910	1.00[CHD][hapmap]
rs7770267	1.00[ASN][1000 genomes]
rs9296805	1.00[ASN][1000 genomes]
rs9296811	1.00[ASN][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	nsv1034037	chr6:55222409-56069600	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv2752670	chr6:55614978-55781605	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1032684	chr6:55680473-55766876	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1024174	chr6:55713889-55829936	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1029301	chr6:55713889-55834480	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:55739600-55742600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr6:55740400-55746600	Weak transcription	A549	lung
3	chr6:55740800-55742600	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr6:55740800-55743400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr6:55740800-55743400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr6:55741200-55742800	Enhancers	Fetal Lung	lung
7	chr6:55741200-55743600	Enhancers	Fetal Heart	heart
8	chr6:55741200-55747400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr6:55741400-55742600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr6:55741800-55742800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr6:55742000-55745800	Weak transcription	Hela-S3	cervix
12	chr6:55742200-55743200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr6:55742400-55742800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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