Variant report

Variant	rs7578081
Chromosome Location	chr2:177678912-177678913
allele	A/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	SIN3AK20	chr2:177678831-177679678	MCF-7	breast:	n/a	n/a
2	JUND	chr2:177678898-177679486	MCF-7	breast:	n/a	n/a
3	HDAC2	chr2:177678911-177679419	MCF-7	breast:	n/a	chr2:177679140-177679149
4	E2F6	chr2:177678547-177678985	H1-hESC	embryonic stem cell:	n/a	n/a
5	FOXM1	chr2:177678797-177679678	MCF-7	breast:	n/a	n/a
6	GATA3	chr2:177678685-177680112	MCF-7	breast:	n/a	n/a
7	EP300	chr2:177678882-177679720	MCF-7	breast:	n/a	chr2:177679140-177679150 chr2:177679630-177679644
8	FOSL2	chr2:177678891-177679569	MCF-7	breast:	n/a	n/a
9	GATA3	chr2:177678830-177679904	MCF-7	breast:	n/a	n/a
10	NR2F2	chr2:177678890-177679454	MCF-7	breast:	n/a	n/a
11	EP300	chr2:177678911-177679514	MCF-7	breast:	n/a	chr2:177679140-177679150
12	MAX	chr2:177678514-177678938	H1-hESC	embryonic stem cell:	n/a	n/a
13	RAD21	chr2:177678869-177679996	MCF-7	breast:	n/a	chr2:177679679-177679698
14	SIN3AK20	chr2:177678839-177679648	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:177678711..177679684-chr2:177710502..177711032,2	MCF-7	breast:
2	chr2:177672353..177675128-chr2:177678147..177680944,2	K562	blood:
3	chr2:177581802..177583651-chr2:177676753..177679006,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000223777	TF binding region
ENSG00000223777	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1004651	1.00[CHD][hapmap]
rs10184742	1.00[CHD][hapmap]
rs1106473	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11679607	1.00[CHD][hapmap]
rs1513884	1.00[ASN][1000 genomes]
rs16864414	1.00[ASN][1000 genomes]
rs16864421	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16864480	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17578186	1.00[ASN][1000 genomes]
rs4635560	1.00[ASN][1000 genomes]
rs4894199	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs66596127	1.00[ASN][1000 genomes]
rs6750532	1.00[CEU][hapmap]
rs72931448	1.00[ASN][1000 genomes]
rs72931451	1.00[ASN][1000 genomes]
rs72931452	1.00[ASN][1000 genomes]
rs72931457	1.00[ASN][1000 genomes]
rs72931460	1.00[ASN][1000 genomes]
rs72931461	1.00[ASN][1000 genomes]
rs72931463	1.00[ASN][1000 genomes]
rs72931465	1.00[ASN][1000 genomes]
rs72934838	1.00[ASN][1000 genomes]
rs72934842	1.00[ASN][1000 genomes]
rs72934846	1.00[ASN][1000 genomes]
rs72934850	1.00[ASN][1000 genomes]
rs72934853	1.00[ASN][1000 genomes]
rs72934864	1.00[ASN][1000 genomes]
rs72934892	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72936942	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7577987	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527737	chr2:177538266-177692572	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv583686	chr2:177538266-177692572	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1006500	chr2:177548521-177707097	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:177676400-177679000	Enhancers	Brain Germinal Matrix	brain
2	chr2:177676800-177679600	Enhancers	Fetal Lung	lung
3	chr2:177677000-177679000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr2:177677200-177679200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr2:177677200-177679600	Enhancers	Ovary	ovary
6	chr2:177677400-177681600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:177678000-177679400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr2:177678000-177680200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr2:177678200-177679600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr2:177678200-177679600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr2:177678200-177679600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr2:177678200-177679600	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr2:177678200-177679600	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr2:177678200-177683400	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr2:177678400-177679000	Enhancers	H1 Cell Line	embryonic stem cell
16	chr2:177678400-177679200	Enhancers	Adipose Nuclei	Adipose
17	chr2:177678400-177679600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:177678600-177679000	Enhancers	Fetal Brain Male	brain
19	chr2:177678600-177679400	Enhancers	Stomach Mucosa	stomach
20	chr2:177678600-177681600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr2:177678600-177683200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr2:177678800-177679400	Weak transcription	Brain Anterior Caudate	brain
23	chr2:177678800-177679400	Weak transcription	Brain Substantia Nigra	brain
24	chr2:177678800-177679600	Enhancers	Liver	Liver
25	chr2:177678800-177679600	Enhancers	Rectal Smooth Muscle	rectum

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