Variant report

Variant	rs16864475
Chromosome Location	chr2:177678865-177678866
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

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	E2F6	chr2:177678547-177678985	H1-hESC	embryonic stem cell:	n/a	n/a
3	FOXM1	chr2:177678797-177679678	MCF-7	breast:	n/a	n/a
4	GATA3	chr2:177678685-177680112	MCF-7	breast:	n/a	n/a
5	GATA3	chr2:177678830-177679904	MCF-7	breast:	n/a	n/a
6	MAX	chr2:177678504-177678895	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAX	chr2:177678514-177678938	H1-hESC	embryonic stem cell:	n/a	n/a
8	SIN3AK20	chr2:177678839-177679648	MCF-7	breast:	n/a	n/a
9	MAX	chr2:177678542-177678882	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

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:

No data

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

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10181816	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10184702	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10197209	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10497573	1.00[ASN][1000 genomes]
rs12693105	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1437725	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1513886	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1533303	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1534472	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1545138	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16864479	0.82[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4021386	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4893917	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55681572	0.86[ASN][1000 genomes]
rs56234839	0.83[ASN][1000 genomes]
rs6740977	0.95[ASN][1000 genomes]
rs72936904	0.91[ASN][1000 genomes]
rs7601162	0.95[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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