Variant report

Variant	rs571312435
Chromosome Location	chr8:131456239-131456240
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	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	POLR2A	chr8:131455431-131456798	HepG2	liver:	n/a	n/a
8	BACH1	chr8:131454553-131456373	H1-hESC	embryonic stem cell:	n/a	n/a
9	E2F1	chr8:131455336-131456256	Hela-S3	cervix:	n/a	chr8:131455811-131455820 chr8:131455616-131455627 chr8:131455615-131455626
10	MXI1	chr8:131455819-131456468	Hela-S3	cervix:	n/a	n/a
11	MAX	chr8:131455691-131456464	HepG2	liver:	n/a	chr8:131455914-131455924 chr8:131456118-131456128 chr8:131455979-131455989
12	POLR2A	chr8:131454452-131457159	Hela-S3	cervix:	n/a	n/a
13	TAF1	chr8:131455452-131456609	ECC-1	luminal epithelium:	n/a	n/a
14	SPI1	chr8:131456152-131456635	HL-60	blood:	n/a	chr8:131456385-131456392 chr8:131456382-131456395
15	YY1	chr8:131455843-131456401	SK-N-SH	brain:	n/a	chr8:131455935-131455944 chr8:131455879-131455890 chr8:131455849-131455863 chr8:131455853-131455864
16	TCF12	chr8:131454288-131456756	A549	lung:	n/a	n/a
17	TAF1	chr8:131455555-131456480	SK-N-SH	brain:	n/a	n/a
18	GATA3	chr8:131455353-131456335	T-47D	breast:	n/a	chr8:131455897-131455907
19	PBX3	chr8:131455707-131456591	SK-N-SH	brain:	n/a	n/a
20	POLR2A	chr8:131456189-131456363	H1-hESC	embryonic stem cell:	n/a	n/a
21	CHD2	chr8:131455433-131456526	HepG2	liver:	n/a	chr8:131455807-131455817 chr8:131455460-131455470
22	POLR2A	chr8:131455838-131456528	U87	brain:	n/a	n/a
23	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
24	POLR2A	chr8:131455427-131456486	MCF-7	breast:	n/a	n/a
25	TAF1	chr8:131455659-131456439	PFSK-1	brain:	n/a	n/a
26	GATA3	chr8:131455658-131457935	SK-N-SH	brain:	n/a	chr8:131456867-131456877 chr8:131455897-131455907
27	MYC	chr8:131454032-131456594	A549	lung:	n/a	chr8:131455462-131455472 chr8:131455914-131455924 chr8:131456118-131456128 chr8:131455979-131455989
28	POLR2A	chr8:131456160-131456382	HepG2	liver:	n/a	n/a
29	POLR2A	chr8:131454544-131456531	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr8:131454477-131456475	IMR90	lung:	n/a	n/a
31	MAX	chr8:131455264-131456525	HepG2	liver:	n/a	chr8:131455462-131455472 chr8:131455914-131455924 chr8:131456118-131456128 chr8:131455979-131455989
32	POLR2A	chr8:131455473-131456412	ProgFib	skin:	n/a	n/a
33	POLR2A	chr8:131454346-131457557	SK-N-MC	brain:	n/a	n/a
34	ZBTB7A	chr8:131455915-131456269	HepG2	liver:	n/a	n/a
35	POLR2A	chr8:131455537-131456531	A549	lung:	n/a	n/a
36	MAX	chr8:131455402-131456487	ECC-1	luminal epithelium:	n/a	chr8:131455462-131455472 chr8:131455914-131455924 chr8:131456118-131456128 chr8:131455979-131455989
37	EGR1	chr8:131455832-131456302	H1-hESC	embryonic stem cell:	n/a	chr8:131456113-131456127 chr8:131456113-131456126 chr8:131455932-131455942 chr8:131455978-131455988
38	EP300	chr8:131455822-131456292	SK-N-SH_RA	brain:	n/a	chr8:131455879-131455895
39	POLR2A	chr8:131456199-131456348	HepG2	liver:	n/a	n/a
40	SIN3AK20	chr8:131455811-131456255	PFSK-1	brain:	n/a	n/a
41	MAX	chr8:131454235-131457841	A549	lung:	n/a	chr8:131455462-131455472 chr8:131455914-131455924 chr8:131456118-131456128 chr8:131455979-131455989
42	TCF7L2	chr8:131455794-131456400	Hela-S3	cervix:	n/a	n/a
43	GABPA	chr8:131455736-131456405	SK-N-SH	brain:	n/a	n/a
44	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
45	YY1	chr8:131455033-131456378	HepG2	liver:	n/a	chr8:131455825-131455836 chr8:131455503-131455517 chr8:131455935-131455944 chr8:131455271-131455282 chr8:131455808-131455822 chr8:131455634-131455648 chr8:131455535-131455549 chr8:131455879-131455890 chr8:131455849-131455863 chr8:131455853-131455864 chr8:131455273-131455282
46	MAX	chr8:131455401-131456533	MCF-7	breast:	n/a	chr8:131455462-131455472 chr8:131455914-131455924 chr8:131456118-131456128 chr8:131455979-131455989
47	E2F6	chr8:131455647-131456366	H1-hESC	embryonic stem cell:	n/a	chr8:131455811-131455820
48	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
49	MYC	chr8:131455643-131456327	MCF-7	breast:	n/a	chr8:131455914-131455924 chr8:131456118-131456128 chr8:131455979-131455989
50	POLR2A	chr8:131454727-131457893	MCF10A-Er-Src	breast:	n/a	n/a

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
ENSG00000100902	Chromatin interaction
ENSG00000153317	Chromatin interaction
ENSG00000265530	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	chr8:131454000-131456600	Active TSS	Right Atrium	heart
2	chr8:131454200-131456400	Active TSS	NHLF	lung
3	chr8:131454400-131456400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:131454400-131456400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:131454400-131456400	Active TSS	Rectal Smooth Muscle	rectum
6	chr8:131454400-131456600	Active TSS	Fetal Muscle Trunk	muscle
7	chr8:131454400-131456600	Active TSS	Left Ventricle	heart
8	chr8:131454400-131456800	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr8:131454600-131456400	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr8:131454600-131456400	Active TSS	Ovary	ovary
11	chr8:131454600-131456600	Active TSS	Right Ventricle	heart
12	chr8:131454600-131457200	Bivalent/Poised TSS	Thymus	Thymus
13	chr8:131454800-131456400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr8:131454800-131456600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr8:131454800-131456600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr8:131454800-131456600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr8:131455000-131456400	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr8:131455000-131456400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:131455000-131456400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:131455000-131456400	Active TSS	Brain Substantia Nigra	brain
21	chr8:131455000-131456400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
22	chr8:131455000-131456400	Active TSS	Fetal Stomach	stomach
23	chr8:131455000-131456400	Active TSS	Pancreas	Pancrea
24	chr8:131455000-131456400	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr8:131455000-131456400	Active TSS	A549	lung
26	chr8:131455000-131456400	Active TSS	HepG2	liver
27	chr8:131455000-131456600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr8:131455200-131456400	Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr8:131455200-131456400	Flanking Active TSS	Primary hematopoietic stem cells	blood
30	chr8:131455400-131456400	Active TSS	Sigmoid Colon	Sigmoid Colon
31	chr8:131455600-131456400	Flanking Active TSS	Primary B cells from cord blood	blood
32	chr8:131455600-131456400	Bivalent/Poised TSS	K562	blood
33	chr8:131455600-131456600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
34	chr8:131455800-131456400	Bivalent/Poised TSS	Fetal Lung	lung
35	chr8:131455800-131456600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr8:131456000-131456400	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
37	chr8:131456000-131456400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
38	chr8:131456000-131456400	Active TSS	Fetal Kidney	kidney
39	chr8:131456000-131456400	Flanking Active TSS	Psoas Muscle	Psoas
40	chr8:131456000-131456400	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
41	chr8:131456000-131456600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
42	chr8:131456000-131456600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr8:131456000-131456600	Flanking Active TSS	Brain Cingulate Gyrus	brain
44	chr8:131456000-131456600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
45	chr8:131456000-131456600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
46	chr8:131456000-131456800	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
47	chr8:131456000-131456800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr8:131456000-131456800	Flanking Active TSS	Stomach Smooth Muscle	stomach
49	chr8:131456000-131457600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
50	chr8:131456000-131457600	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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