Variant report

Variant	rs72671357
Chromosome Location	chr8:104153965-104153966
allele	A/G
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	CTCF	chr8:104153820-104153970	BE2_C	brain:	n/a	n/a
2	POLR2A	chr8:104153084-104154083	U87	brain:	n/a	n/a
3	JUN	chr8:104153732-104154051	H1-hESC	embryonic stem cell:	n/a	n/a
4	SPI1	chr8:104153614-104154004	HL-60	blood:	n/a	chr8:104153790-104153803
5	POLR2A	chr8:104153058-104154089	U87	brain:	n/a	n/a
6	POLR2A	chr8:104153540-104154064	U87	brain:	n/a	n/a
7	RAD21	chr8:104152853-104153983	H1-hESC	embryonic stem cell:	n/a	chr8:104153713-104153727

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:104152186..104155681-chr8:104309748..104312108,3	MCF-7	breast:
2	chr8:104153176..104156099-chr8:104164228..104166566,2	MCF-7	breast:

Variant related genes	Relation type
C8orf56	TF binding region
ENSG00000164929	Chromatin interaction
ENSG00000247081	Chromatin interaction
ENSG00000164930	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs62527607	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6998012	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6999246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6999622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7014008	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7014597	1.00[AMR][1000 genomes];1.00[EUR][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	nsv831413	chr8:104085141-104269789	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	esv3327360	chr8:104152001-104154549	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104152200-104154000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
2	chr8:104152200-104154000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr8:104152200-104154000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr8:104152200-104154200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:104152200-104155600	Active TSS	Brain Substantia Nigra	brain
6	chr8:104152400-104154000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
7	chr8:104152400-104154000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
8	chr8:104152400-104154000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
9	chr8:104152400-104154600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr8:104152600-104154000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr8:104152600-104154000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr8:104152600-104154000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
13	chr8:104152600-104154000	Active TSS	Muscle Satellite Cultured Cells	--
14	chr8:104152600-104154000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr8:104152600-104154000	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr8:104152600-104154000	Bivalent/Poised TSS	Left Ventricle	heart
17	chr8:104152600-104154000	Bivalent/Poised TSS	Psoas Muscle	Psoas
18	chr8:104152600-104154000	Active TSS	Right Atrium	heart
19	chr8:104152600-104154600	Active TSS	Brain Hippocampus Middle	brain
20	chr8:104152600-104155000	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr8:104152800-104154000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
22	chr8:104152800-104154000	Bivalent/Poised TSS	Fetal Stomach	stomach
23	chr8:104152800-104154200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:104152800-104154600	Active TSS	Brain Cingulate Gyrus	brain
25	chr8:104152800-104154600	Active TSS	NHDF-Ad	bronchial
26	chr8:104152800-104156000	Active TSS	Brain Angular Gyrus	brain
27	chr8:104153000-104154000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr8:104153000-104154800	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr8:104153200-104154000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
30	chr8:104153200-104154000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
31	chr8:104153200-104154000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
32	chr8:104153200-104154800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr8:104153200-104156000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr8:104153400-104154000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr8:104153400-104155000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
36	chr8:104153600-104154000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr8:104153600-104154000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr8:104153600-104154000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr8:104153600-104154000	Active TSS	NH-A	brain
40	chr8:104153600-104154200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
41	chr8:104153600-104154200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
42	chr8:104153600-104155000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr8:104153600-104155400	Weak transcription	Aorta	Aorta
44	chr8:104153600-104156200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr8:104153600-104159000	Weak transcription	Spleen	Spleen
46	chr8:104153800-104154000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
47	chr8:104153800-104154000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr8:104153800-104154000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
49	chr8:104153800-104154000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr8:104153800-104154000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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