Variant report

Variant	rs56730525
Chromosome Location	chr8:104306328-104306329
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	TAF1	chr8:104306236-104306551	SK-N-SH	brain:	n/a	n/a
2	CTCF	chr8:104306280-104306430	HCM	heart:	n/a	n/a
3	RAD21	chr8:104306183-104306596	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr8:104306320-104306470	HPAF	blood vessel:	n/a	n/a
5	NFIC	chr8:104305521-104306642	SK-N-SH	brain:	n/a	n/a
6	EP300	chr8:104305458-104306432	SK-N-SH	brain:	n/a	chr8:104306124-104306137
7	SPI1	chr8:104306125-104306630	HL-60	blood:	n/a	chr8:104306359-104306372 chr8:104306361-104306370 chr8:104306360-104306373
8	POLR2A	chr8:104305583-104306595	SK-N-SH	brain:	n/a	n/a
9	GATA3	chr8:104305509-104306471	SK-N-SH	brain:	n/a	n/a
10	RAD21	chr8:104306274-104306592	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr8:104306300-104306450	HL-60	blood:	n/a	n/a
12	RAD21	chr8:104306263-104306585	SK-N-SH_RA	brain:	n/a	n/a
13	JUND	chr8:104305521-104306332	SK-N-SH	brain:	n/a	n/a
14	PBX3	chr8:104305562-104306627	SK-N-SH	brain:	n/a	chr8:104306128-104306137
15	MAX	chr8:104306160-104306653	NB4	blood:	n/a	n/a
16	CTCF	chr8:104306300-104306450	SK-N-SH_RA	brain:	n/a	n/a
17	PBX3	chr8:104305552-104306629	SK-N-SH	brain:	n/a	chr8:104306128-104306137
18	EP300	chr8:104305449-104306390	SK-N-SH	brain:	n/a	chr8:104306124-104306137
19	EP300	chr8:104305474-104306364	SK-N-SH	brain:	n/a	chr8:104306124-104306137
20	TCF12	chr8:104305492-104306724	SK-N-SH	brain:	n/a	n/a
21	RAD21	chr8:104306234-104306587	SK-N-SH_RA	brain:	n/a	n/a
22	RAD21	chr8:104306232-104306650	HCT-116	colon:	n/a	n/a
23	CTCF	chr8:104306320-104306470	HVMF	connective:	n/a	n/a
24	MYC	chr8:104306293-104306587	NB4	blood:	n/a	n/a
25	KAP1	chr8:104305767-104306494	U2OS	brain:	n/a	n/a
26	TCF12	chr8:104305528-104306348	SK-N-SH	brain:	n/a	n/a
27	CTCF	chr8:104306220-104306370	HA-sp	spinal cord:	n/a	n/a
28	CTCF	chr8:104306220-104306370	HFF-Myc	foreskin:	n/a	n/a
29	CTCF	chr8:104306300-104306450	AG04449	skin:	n/a	n/a
30	RAD21	chr8:104306310-104306513	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:104304283..104306547-chr8:104353505..104355629,2	MCF-7	breast:
2	chr14:54600521..54601081-chr8:104305919..104306419,2	NB4	blood:
3	chr12:80085787..80088152-chr8:104304096..104306687,2	MCF-7	breast:

Variant related genes	Relation type
FZD6	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1095715	0.88[ASN][1000 genomes]
rs11989069	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11990999	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11998139	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11998144	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16870322	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2642365	0.88[ASN][1000 genomes]
rs2642369	0.88[ASN][1000 genomes]
rs3808558	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56136557	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61066888	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67763699	0.95[ASN][1000 genomes]
rs6985705	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73286017	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73699758	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73699761	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7827146	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7834297	0.95[ASN][1000 genomes]
rs827526	0.88[ASN][1000 genomes]
rs827540	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	esv1848810	chr8:104128496-104369288	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	esv1844303	chr8:104128696-104369090	Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1015965	chr8:104192086-104361108	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv1017326	chr8:104236193-104313235	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv1023181	chr8:104298542-104366365	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer 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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104293800-104310000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:104302800-104309000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:104305600-104306400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr8:104305600-104306600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr8:104305600-104306600	Enhancers	NHLF	lung
6	chr8:104305600-104306800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr8:104305600-104306800	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr8:104305800-104306800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr8:104306000-104306400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr8:104306000-104306400	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr8:104306000-104306400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:104306000-104306400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr8:104306000-104306400	Enhancers	Primary hematopoietic stem cells	blood
14	chr8:104306000-104306400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr8:104306000-104306400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:104306000-104306600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr8:104306000-104306600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr8:104306000-104306600	Enhancers	NHDF-Ad	bronchial
19	chr8:104306200-104306400	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr8:104306200-104306400	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr8:104306200-104306400	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr8:104306200-104309200	Weak transcription	Placenta Amnion	Placenta Amnion

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