Variant report

Variant	rs10100873
Chromosome Location	chr8:59464803-59464804
allele	G/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	GATA3	chr8:59464675-59464823	SH-SY5Y	brain:	n/a	n/a
2	EP300	chr8:59464794-59464972	K562	blood:	n/a	chr8:59464848-59464862
3	MAZ	chr8:59464788-59466919	IMR90	lung:	n/a	chr8:59464850-59464859
4	POLR2A	chr8:59464610-59469465	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:59464567..59467546-chr8:59474944..59480287,7	MCF-7	breast:
2	chr8:59463736..59468207-chr8:59482369..59488045,4	K562	blood:
3	chr8:59464704..59467459-chr8:59489336..59490887,2	MCF-7	breast:
4	chr8:59464523..59466345-chr8:59503286..59506269,2	K562	blood:

Variant related genes	Relation type
SDCBP	TF binding region
ENSG00000035681	Chromatin interaction
ENSG00000137575	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10090964	0.88[EUR][1000 genomes]
rs10092359	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10099153	0.83[EUR][1000 genomes]
rs10099912	0.83[EUR][1000 genomes]
rs10102709	0.90[EUR][1000 genomes]
rs10106272	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10110065	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10110111	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10111506	0.89[EUR][1000 genomes]
rs10113750	0.88[EUR][1000 genomes]
rs1050488	0.84[AMR][1000 genomes]
rs1050504	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11775194	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11776003	0.87[EUR][1000 genomes]
rs11783174	0.84[EUR][1000 genomes]
rs12335008	0.84[EUR][1000 genomes]
rs12674568	0.90[EUR][1000 genomes]
rs12676593	0.83[EUR][1000 genomes]
rs12678669	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12679938	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12680104	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12680996	0.88[EUR][1000 genomes]
rs16923562	0.88[EUR][1000 genomes]
rs16923564	0.89[EUR][1000 genomes]
rs16923594	0.81[EUR][1000 genomes]
rs17263989	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17272151	0.80[EUR][1000 genomes]
rs1976162	0.81[AMR][1000 genomes]
rs1991359	0.89[EUR][1000 genomes]
rs2130072	0.81[EUR][1000 genomes]
rs28429491	0.89[EUR][1000 genomes]
rs28650441	0.89[EUR][1000 genomes]
rs28656336	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28711402	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28809811	0.88[EUR][1000 genomes]
rs3808609	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55774738	0.89[EUR][1000 genomes]
rs59979442	0.83[EUR][1000 genomes]
rs6471729	0.88[EUR][1000 genomes]
rs6981601	0.89[EUR][1000 genomes]
rs6986129	0.89[EUR][1000 genomes]
rs7009248	0.89[EUR][1000 genomes]
rs7009374	0.89[EUR][1000 genomes]
rs7011095	0.82[EUR][1000 genomes]
rs7014398	0.88[EUR][1000 genomes]
rs72647424	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72647425	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72647434	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72647435	0.84[EUR][1000 genomes]
rs72647437	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7817515	0.88[EUR][1000 genomes]
rs7825996	0.84[EUR][1000 genomes]
rs8192870	0.80[ASN][1000 genomes]
rs9297995	0.88[EUR][1000 genomes]
rs9297999	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890938	chr8:59355053-59809785	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59440400-59465200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:59456200-59465000	Weak transcription	Adipose Nuclei	Adipose
3	chr8:59458800-59465000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr8:59461400-59465000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:59461600-59465000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr8:59462400-59465000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr8:59464600-59468200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr8:59464800-59465000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
9	chr8:59464800-59465000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
10	chr8:59464800-59465000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:59464800-59465000	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr8:59464800-59465000	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr8:59464800-59465000	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr8:59464800-59465000	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr8:59464800-59465000	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr8:59464800-59465000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr8:59464800-59465000	Enhancers	Liver	Liver
18	chr8:59464800-59465000	Enhancers	Brain Hippocampus Middle	brain
19	chr8:59464800-59465000	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr8:59464800-59465000	Enhancers	Fetal Heart	heart
21	chr8:59464800-59465000	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr8:59464800-59465000	Enhancers	HUVEC	blood vessel
23	chr8:59464800-59465000	Enhancers	NHDF-Ad	bronchial
24	chr8:59464800-59465000	Enhancers	NHEK	skin
25	chr8:59464800-59465200	Enhancers	Colon Smooth Muscle	Colon
26	chr8:59464800-59465400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
27	chr8:59464800-59467200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr8:59464800-59468600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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