Variant report

Variant	rs556299707
Chromosome Location	chr8:131456111-131456112
allele	-/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	GATA2	chr8:131455815-131456350	HUVEC	blood vessel:	n/a	chr8:131455897-131455907
2	TAF1	chr8:131455646-131456394	HepG2	liver:	n/a	n/a
3	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
4	POLR2A	chr8:131455239-131457407	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr8:131455818-131456328	Gliobla	brain:	n/a	n/a
6	POLR2A	chr8:131454301-131456539	HUVEC	blood vessel:	n/a	n/a
7	TEAD4	chr8:131455701-131456127	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr8:131455431-131456798	HepG2	liver:	n/a	n/a
9	BACH1	chr8:131454553-131456373	H1-hESC	embryonic stem cell:	n/a	n/a
10	E2F1	chr8:131455336-131456256	Hela-S3	cervix:	n/a	chr8:131455811-131455820 chr8:131455616-131455627 chr8:131455615-131455626
11	MAFF	chr8:131455895-131456193	HepG2	liver:	n/a	chr8:131456026-131456040 chr8:131456027-131456045
12	MXI1	chr8:131455819-131456468	Hela-S3	cervix:	n/a	n/a
13	MAX	chr8:131455691-131456464	HepG2	liver:	n/a	chr8:131455914-131455924 chr8:131456118-131456128 chr8:131455979-131455989
14	POLR2A	chr8:131454452-131457159	Hela-S3	cervix:	n/a	n/a
15	HMGN3	chr8:131455602-131456224	K562	blood:	n/a	n/a
16	TAF1	chr8:131455452-131456609	ECC-1	luminal epithelium:	n/a	n/a
17	TAF1	chr8:131455593-131456169	H1-hESC	embryonic stem cell:	n/a	n/a
18	YY1	chr8:131455843-131456401	SK-N-SH	brain:	n/a	chr8:131455935-131455944 chr8:131455879-131455890 chr8:131455849-131455863 chr8:131455853-131455864
19	TCF12	chr8:131454288-131456756	A549	lung:	n/a	n/a
20	E2F6	chr8:131455463-131456127	K562	blood:	n/a	chr8:131455811-131455820 chr8:131455616-131455627 chr8:131455615-131455626
21	TAF1	chr8:131455555-131456480	SK-N-SH	brain:	n/a	n/a
22	GATA3	chr8:131455353-131456335	T-47D	breast:	n/a	chr8:131455897-131455907
23	PBX3	chr8:131455707-131456591	SK-N-SH	brain:	n/a	n/a
24	CHD2	chr8:131455433-131456526	HepG2	liver:	n/a	chr8:131455807-131455817 chr8:131455460-131455470
25	POLR2A	chr8:131455838-131456528	U87	brain:	n/a	n/a
26	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
27	POLR2A	chr8:131455427-131456486	MCF-7	breast:	n/a	n/a
28	TAF1	chr8:131455659-131456439	PFSK-1	brain:	n/a	n/a
29	FOXP2	chr8:131455668-131456202	PFSK-1	brain:	n/a	n/a
30	GATA3	chr8:131455658-131457935	SK-N-SH	brain:	n/a	chr8:131456867-131456877 chr8:131455897-131455907
31	MYC	chr8:131454032-131456594	A549	lung:	n/a	chr8:131455462-131455472 chr8:131455914-131455924 chr8:131456118-131456128 chr8:131455979-131455989
32	POLR2A	chr8:131454544-131456531	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr8:131454477-131456475	IMR90	lung:	n/a	n/a
34	MAX	chr8:131455264-131456525	HepG2	liver:	n/a	chr8:131455462-131455472 chr8:131455914-131455924 chr8:131456118-131456128 chr8:131455979-131455989
35	POLR2A	chr8:131455473-131456412	ProgFib	skin:	n/a	n/a
36	TEAD4	chr8:131455818-131456214	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr8:131454346-131457557	SK-N-MC	brain:	n/a	n/a
38	JUND	chr8:131455856-131456224	H1-hESC	embryonic stem cell:	n/a	n/a
39	ZBTB7A	chr8:131455915-131456269	HepG2	liver:	n/a	n/a
40	POLR2A	chr8:131455537-131456531	A549	lung:	n/a	n/a
41	MAX	chr8:131455402-131456487	ECC-1	luminal epithelium:	n/a	chr8:131455462-131455472 chr8:131455914-131455924 chr8:131456118-131456128 chr8:131455979-131455989
42	E2F6	chr8:131455409-131456179	K562	blood:	n/a	chr8:131455811-131455820 chr8:131455616-131455627 chr8:131455615-131455626
43	EGR1	chr8:131455832-131456302	H1-hESC	embryonic stem cell:	n/a	chr8:131456113-131456127 chr8:131456113-131456126 chr8:131455932-131455942 chr8:131455978-131455988
44	EP300	chr8:131455822-131456292	SK-N-SH_RA	brain:	n/a	chr8:131455879-131455895
45	BRCA1	chr8:131455986-131456121	H1-hESC	embryonic stem cell:	n/a	n/a
46	SIN3AK20	chr8:131455811-131456255	PFSK-1	brain:	n/a	n/a
47	MAX	chr8:131454235-131457841	A549	lung:	n/a	chr8:131455462-131455472 chr8:131455914-131455924 chr8:131456118-131456128 chr8:131455979-131455989
48	TCF7L2	chr8:131455794-131456400	Hela-S3	cervix:	n/a	n/a
49	GABPA	chr8:131455736-131456405	SK-N-SH	brain:	n/a	n/a
50	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

No.	Distal block	Cell Line	Cell type
1	chr8:131436507..131441847-chr8:131454010..131456873,7	MCF-7	breast:
2	chr2:38977967..38978621-chr8:131455533..131456172,2	Hela-S3	cervix:
3	chr14:35760689..35762512-chr8:131454589..131456596,2	MCF-7	breast:

Variant related genes	Relation type
ASAP1	TF binding region
ENSG00000153317	Chromatin interaction
ENSG00000115875	Chromatin interaction
ENSG00000265530	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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131454000-131456200	Active TSS	Lung	lung
2	chr8:131454000-131456600	Active TSS	Right Atrium	heart
3	chr8:131454200-131456400	Active TSS	NHLF	lung
4	chr8:131454400-131456200	Active TSS	H9 Cell Line	embryonic stem cell
5	chr8:131454400-131456200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr8:131454400-131456200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr8:131454400-131456200	Active TSS	Brain Angular Gyrus	brain
8	chr8:131454400-131456400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:131454400-131456400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:131454400-131456400	Active TSS	Rectal Smooth Muscle	rectum
11	chr8:131454400-131456600	Active TSS	Fetal Muscle Trunk	muscle
12	chr8:131454400-131456600	Active TSS	Left Ventricle	heart
13	chr8:131454400-131456800	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr8:131454600-131456200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr8:131454600-131456200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:131454600-131456200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:131454600-131456200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr8:131454600-131456200	Active TSS	HSMM	muscle
19	chr8:131454600-131456400	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr8:131454600-131456400	Active TSS	Ovary	ovary
21	chr8:131454600-131456600	Active TSS	Right Ventricle	heart
22	chr8:131454600-131457200	Bivalent/Poised TSS	Thymus	Thymus
23	chr8:131454800-131456200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr8:131454800-131456200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr8:131454800-131456200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr8:131454800-131456200	Active TSS	Aorta	Aorta
27	chr8:131454800-131456200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr8:131454800-131456200	Active TSS	Colon Smooth Muscle	Colon
29	chr8:131454800-131456200	Active TSS	Esophagus	oesophagus
30	chr8:131454800-131456200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
31	chr8:131454800-131456200	Active TSS	Gastric	stomach
32	chr8:131454800-131456200	Active TSS	Placenta Amnion	Placenta Amnion
33	chr8:131454800-131456200	Active TSS	Hela-S3	cervix
34	chr8:131454800-131456200	Active TSS	HSMMtube	muscle
35	chr8:131454800-131456200	Active TSS	HUVEC	blood vessel
36	chr8:131454800-131456200	Active TSS	NHDF-Ad	bronchial
37	chr8:131454800-131456400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr8:131454800-131456600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr8:131454800-131456600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr8:131454800-131456600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr8:131455000-131456200	Active TSS	H1 Cell Line	embryonic stem cell
42	chr8:131455000-131456200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr8:131455000-131456200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr8:131455000-131456200	Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr8:131455000-131456200	Active TSS	Brain Anterior Caudate	brain
46	chr8:131455000-131456200	Active TSS	Brain Germinal Matrix	brain
47	chr8:131455000-131456200	Active TSS	Brain Hippocampus Middle	brain
48	chr8:131455000-131456200	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr8:131455000-131456200	Active TSS	Fetal Brain Female	brain
50	chr8:131455000-131456200	Active TSS	Fetal Muscle Leg	muscle

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