Variant report

Variant	rs568524893
Chromosome Location	chr8:131456418-131456419
allele	C/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	YY1	chr8:131455713-131456460	ECC-1	luminal epithelium:	n/a	chr8:131455825-131455836 chr8:131455935-131455944 chr8:131455808-131455822 chr8:131455879-131455890 chr8:131455849-131455863 chr8:131455853-131455864
2	POLR2A	chr8:131455239-131457407	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr8:131454301-131456539	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr8:131455431-131456798	HepG2	liver:	n/a	n/a
5	MXI1	chr8:131455819-131456468	Hela-S3	cervix:	n/a	n/a
6	MAX	chr8:131455691-131456464	HepG2	liver:	n/a	chr8:131455914-131455924 chr8:131456118-131456128 chr8:131455979-131455989
7	POLR2A	chr8:131454452-131457159	Hela-S3	cervix:	n/a	n/a
8	TAF1	chr8:131455452-131456609	ECC-1	luminal epithelium:	n/a	n/a
9	SPI1	chr8:131456152-131456635	HL-60	blood:	n/a	chr8:131456385-131456392 chr8:131456382-131456395
10	TCF12	chr8:131454288-131456756	A549	lung:	n/a	n/a
11	TAF1	chr8:131455555-131456480	SK-N-SH	brain:	n/a	n/a
12	PBX3	chr8:131455707-131456591	SK-N-SH	brain:	n/a	n/a
13	CHD2	chr8:131455433-131456526	HepG2	liver:	n/a	chr8:131455807-131455817 chr8:131455460-131455470
14	POLR2A	chr8:131455838-131456528	U87	brain:	n/a	n/a
15	ETS1	chr8:131455586-131456485	A549	lung:	n/a	chr8:131456380-131456391 chr8:131456384-131456391 chr8:131456012-131456025 chr8:131456378-131456392 chr8:131455897-131455911 chr8:131455810-131455823 chr8:131455924-131455935
16	POLR2A	chr8:131455427-131456486	MCF-7	breast:	n/a	n/a
17	TAF1	chr8:131455659-131456439	PFSK-1	brain:	n/a	n/a
18	GATA3	chr8:131455658-131457935	SK-N-SH	brain:	n/a	chr8:131456867-131456877 chr8:131455897-131455907
19	MYC	chr8:131454032-131456594	A549	lung:	n/a	chr8:131455462-131455472 chr8:131455914-131455924 chr8:131456118-131456128 chr8:131455979-131455989
20	POLR2A	chr8:131454544-131456531	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr8:131454477-131456475	IMR90	lung:	n/a	n/a
22	MAX	chr8:131455264-131456525	HepG2	liver:	n/a	chr8:131455462-131455472 chr8:131455914-131455924 chr8:131456118-131456128 chr8:131455979-131455989
23	POLR2A	chr8:131454346-131457557	SK-N-MC	brain:	n/a	n/a
24	POLR2A	chr8:131455537-131456531	A549	lung:	n/a	n/a
25	MAX	chr8:131455402-131456487	ECC-1	luminal epithelium:	n/a	chr8:131455462-131455472 chr8:131455914-131455924 chr8:131456118-131456128 chr8:131455979-131455989
26	MAX	chr8:131454235-131457841	A549	lung:	n/a	chr8:131455462-131455472 chr8:131455914-131455924 chr8:131456118-131456128 chr8:131455979-131455989
27	SP1	chr8:131455663-131456739	A549	lung:	n/a	chr8:131456117-131456129 chr8:131456117-131456129 chr8:131456132-131456145 chr8:131456112-131456122 chr8:131456118-131456128 chr8:131455922-131455936
28	MAX	chr8:131455401-131456533	MCF-7	breast:	n/a	chr8:131455462-131455472 chr8:131455914-131455924 chr8:131456118-131456128 chr8:131455979-131455989
29	SP1	chr8:131455757-131457410	A549	lung:	n/a	chr8:131456117-131456129 chr8:131456117-131456129 chr8:131456132-131456145 chr8:131456112-131456122 chr8:131456118-131456128 chr8:131455922-131455936
30	POLR2A	chr8:131454727-131457893	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr8:131455890-131457699	MCF10A-Er-Src	breast:	n/a	chr8:131457070-131457081
32	REST	chr8:131455724-131456458	PFSK-1	brain:	n/a	chr8:131456268-131456277 chr8:131456264-131456277 chr8:131455814-131455827 chr8:131455859-131455872
33	GABPA	chr8:131455706-131456518	A549	lung:	n/a	n/a
34	PBX3	chr8:131455714-131456446	A549	lung:	n/a	n/a
35	TBP	chr8:131455899-131457292	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr8:131455428-131456617	PFSK-1	brain:	n/a	n/a
37	POLR2A	chr8:131455899-131456458	HepG2	liver:	n/a	n/a
38	RCOR1	chr8:131455551-131458011	IMR90	lung:	n/a	n/a
39	POLR2A	chr8:131454499-131456668	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr8:131455639-131456518	MCF-7	breast:	n/a	n/a
41	REST	chr8:131455687-131456448	SK-N-SH	brain:	n/a	chr8:131456268-131456277 chr8:131456264-131456277 chr8:131455814-131455827 chr8:131455859-131455872
42	RAD21	chr8:131455450-131456561	SK-N-SH_RA	brain:	n/a	chr8:131455634-131455644
43	SIN3AK20	chr8:131455915-131456438	A549	lung:	n/a	n/a
44	POLR2A	chr8:131455838-131456570	U87	brain:	n/a	n/a
45	POLR2A	chr8:131455367-131456464	ECC-1	luminal epithelium:	n/a	n/a
46	BRCA1	chr8:131456065-131456440	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr8:131455646-131456460	MCF-7	breast:	n/a	n/a
48	JUND	chr8:131454381-131457745	SK-N-SH	brain:	n/a	n/a
49	MYC	chr8:131455536-131457779	MCF10A-Er-Src	breast:	n/a	chr8:131455914-131455924 chr8:131456118-131456128 chr8:131455979-131455989
50	HA-E2F1	chr8:131455294-131456549	MCF-7	breast:	n/a	chr8:131455811-131455820 chr8:131455616-131455627 chr8:131455615-131455626

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131436507..131441847-chr8:131454010..131456873,7	MCF-7	breast:
2	chr14:35760689..35762512-chr8:131454589..131456596,2	MCF-7	breast:

Variant related genes	Relation type
ASAP1	TF binding region
ENSG00000265530	Chromatin interaction
ENSG00000153317	Chromatin interaction
ENSG00000100902	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	esv3423192	chr8:131454795-131457643	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	esv3408589	chr8:131454820-131456918	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131454000-131456600	Active TSS	Right Atrium	heart
2	chr8:131454400-131456600	Active TSS	Fetal Muscle Trunk	muscle
3	chr8:131454400-131456600	Active TSS	Left Ventricle	heart
4	chr8:131454400-131456800	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr8:131454600-131456600	Active TSS	Right Ventricle	heart
6	chr8:131454600-131457200	Bivalent/Poised TSS	Thymus	Thymus
7	chr8:131454800-131456600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr8:131454800-131456600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:131454800-131456600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr8:131455000-131456600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr8:131455600-131456600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
12	chr8:131455800-131456600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr8:131456000-131456600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
14	chr8:131456000-131456600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr8:131456000-131456600	Flanking Active TSS	Brain Cingulate Gyrus	brain
16	chr8:131456000-131456600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
17	chr8:131456000-131456600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
18	chr8:131456000-131456800	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
19	chr8:131456000-131456800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr8:131456000-131456800	Flanking Active TSS	Stomach Smooth Muscle	stomach
21	chr8:131456000-131457600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
22	chr8:131456000-131457600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
23	chr8:131456000-131457600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr8:131456000-131457800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
25	chr8:131456000-131457800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr8:131456000-131457800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr8:131456000-131457800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
28	chr8:131456000-131457800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr8:131456000-131457800	Flanking Active TSS	GM12878-XiMat	blood
30	chr8:131456000-131457800	Flanking Active TSS	HMEC	breast
31	chr8:131456000-131458000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
32	chr8:131456000-131458000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
33	chr8:131456000-131458000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr8:131456000-131458200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
35	chr8:131456200-131456600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
36	chr8:131456200-131456600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr8:131456200-131456600	Flanking Active TSS	H9 Cell Line	embryonic stem cell
38	chr8:131456200-131456600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
39	chr8:131456200-131456600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
40	chr8:131456200-131456600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
41	chr8:131456200-131456600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
42	chr8:131456200-131456600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr8:131456200-131456600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr8:131456200-131456600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr8:131456200-131456600	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr8:131456200-131456600	Flanking Active TSS	Brain Angular Gyrus	brain
47	chr8:131456200-131456600	Flanking Active TSS	Brain Germinal Matrix	brain
48	chr8:131456200-131456600	Flanking Active TSS	Brain Hippocampus Middle	brain
49	chr8:131456200-131456600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
50	chr8:131456200-131456600	Flanking Active TSS	Colon Smooth Muscle	Colon

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