Variant report

Variant	rs142815495
Chromosome Location	chr8:120220479-120220480
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	E2F6	chr8:120220257-120221626	Hela-S3	cervix:	n/a	chr8:120221152-120221159 chr8:120220285-120220299 chr8:120220523-120220532 chr8:120221309-120221321
2	MAX	chr8:120220108-120221698	H1-hESC	embryonic stem cell:	n/a	chr8:120220112-120220121 chr8:120221307-120221317 chr8:120220934-120220944 chr8:120220955-120220963 chr8:120220543-120220552 chr8:120220545-120220554 chr8:120220544-120220555
3	E2F4	chr8:120220308-120220582	MCF10A-Er-Src	breast:	n/a	chr8:120220523-120220532
4	RAD21	chr8:120220268-120220490	Hela-S3	cervix:	n/a	chr8:120220417-120220430
5	REST	chr8:120220153-120221133	H1-neurons	neurons:	n/a	chr8:120220878-120220891 chr8:120220606-120220624 chr8:120220436-120220456
6	NR2F2	chr8:120219815-120220778	MCF-7	breast:	n/a	n/a
7	POLR2A	chr8:120220143-120220519	Hela-S3	cervix:	n/a	n/a
8	TBP	chr8:120220411-120220582	Hela-S3	cervix:	n/a	n/a
9	REST	chr8:120220320-120220544	H1-hESC	embryonic stem cell:	n/a	chr8:120220436-120220456
10	RCOR1	chr8:120220407-120220584	HepG2	liver:	n/a	n/a
11	USF1	chr8:120220150-120220740	H1-hESC	embryonic stem cell:	n/a	n/a
12	E2F1	chr8:120219988-120221009	Hela-S3	cervix:	n/a	chr8:120220285-120220299 chr8:120220523-120220532
13	USF1	chr8:120220341-120220670	HepG2	liver:	n/a	n/a
14	POLR2A	chr8:120220345-120220535	H1-hESC	embryonic stem cell:	n/a	n/a
15	MYC	chr8:120220232-120220685	MCF10A-Er-Src	breast:	n/a	chr8:120220543-120220552 chr8:120220545-120220554 chr8:120220544-120220555
16	POLR2A	chr8:120220170-120221672	ECC-1	luminal epithelium:	n/a	n/a
17	SMARCB1	chr8:120219945-120222244	Hela-S3	cervix:	n/a	chr8:120220236-120220245 chr8:120220112-120220121
18	POLR2A	chr8:120220403-120221016	H1-neurons	neurons:	n/a	n/a
19	CEBPB	chr8:120220366-120220491	H1-hESC	embryonic stem cell:	n/a	n/a
20	MAX	chr8:120219979-120221795	H1-hESC	embryonic stem cell:	n/a	chr8:120220112-120220121 chr8:120221307-120221317 chr8:120220934-120220944 chr8:120220955-120220963 chr8:120220543-120220552 chr8:120221754-120221763 chr8:120220545-120220554 chr8:120220544-120220555
21	RAD21	chr8:120220174-120220649	H1-hESC	embryonic stem cell:	n/a	chr8:120220417-120220430
22	CHD2	chr8:120220227-120222229	Hela-S3	cervix:	n/a	chr8:120221152-120221159 chr8:120220587-120220597 chr8:120221047-120221057
23	MAX	chr8:120219811-120222334	HCT-116	colon:	n/a	chr8:120220112-120220121 chr8:120221307-120221317 chr8:120220934-120220944 chr8:120220955-120220963 chr8:120220543-120220552 chr8:120221754-120221763 chr8:120220545-120220554 chr8:120220544-120220555
24	REST	chr8:120220206-120220721	ECC-1	luminal epithelium:	n/a	chr8:120220606-120220624 chr8:120220436-120220456
25	TAF1	chr8:120220217-120220731	H1-hESC	embryonic stem cell:	n/a	n/a
26	CHD2	chr8:120220127-120220591	H1-hESC	embryonic stem cell:	n/a	n/a
27	RFX5	chr8:120220381-120220567	Hela-S3	cervix:	n/a	n/a
28	USF1	chr8:120220189-120220642	HepG2	liver:	n/a	n/a
29	REST	chr8:120220107-120220620	ECC-1	luminal epithelium:	n/a	chr8:120220436-120220456
30	MAX	chr8:120220063-120220641	H1-hESC	embryonic stem cell:	n/a	chr8:120220112-120220121 chr8:120220543-120220552 chr8:120220545-120220554 chr8:120220544-120220555
31	SMC3	chr8:120219944-120220582	Hela-S3	cervix:	n/a	n/a
32	CTCF	chr8:120220421-120220496	MCF-7	breast:	n/a	n/a
33	USF2	chr8:120220319-120220687	HepG2	liver:	n/a	n/a
34	CEBPB	chr8:120220302-120220653	HepG2	liver:	n/a	n/a
35	YY1	chr8:120220235-120220620	H1-hESC	embryonic stem cell:	n/a	n/a
36	MAX	chr8:120220134-120222309	HepG2	liver:	n/a	chr8:120221307-120221317 chr8:120220934-120220944 chr8:120220955-120220963 chr8:120220543-120220552 chr8:120221754-120221763 chr8:120220545-120220554 chr8:120220544-120220555
37	USF1	chr8:120220359-120220571	A549	lung:	n/a	n/a
38	RCOR1	chr8:120220017-120220599	Hela-S3	cervix:	n/a	n/a
39	REST	chr8:120220224-120220580	H1-hESC	embryonic stem cell:	n/a	chr8:120220436-120220456
40	TCF12	chr8:120220247-120220590	H1-hESC	embryonic stem cell:	n/a	chr8:120220483-120220490
41	MYC	chr8:120220322-120220621	H1-hESC	embryonic stem cell:	n/a	chr8:120220543-120220552 chr8:120220545-120220554 chr8:120220544-120220555
42	POLR2A	chr8:120220219-120220554	H1-hESC	embryonic stem cell:	n/a	n/a
43	HA-E2F1	chr8:120220213-120221220	Hela-S3	cervix:	n/a	chr8:120221152-120221159 chr8:120220285-120220299 chr8:120220523-120220532
44	POLR2A	chr8:120219852-120222242	HCT-116	colon:	n/a	n/a
45	MYC	chr8:120220278-120220580	MCF10A-Er-Src	breast:	n/a	chr8:120220543-120220552 chr8:120220545-120220554 chr8:120220544-120220555
46	SIN3AK20	chr8:120219146-120222455	MCF-7	breast:	n/a	n/a
47	TCF12	chr8:120220176-120220693	ECC-1	luminal epithelium:	n/a	chr8:120220483-120220490
48	ATF3	chr8:120220315-120220714	HepG2	liver:	n/a	chr8:120220554-120220563 chr8:120220545-120220565
49	E2F6	chr8:120219850-120222354	H1-hESC	embryonic stem cell:	n/a	chr8:120221998-120222007 chr8:120221152-120221159 chr8:120220285-120220299 chr8:120220523-120220532 chr8:120221309-120221321
50	NANOG	chr8:120220365-120220710	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:120220462-120220512	LNCaP	prostate:	n/a
2	chr8:120220462-120220512	HCPEpiC	choroid plexus:	n/a
3	chr8:120220462-120220512	SAEC	small airway:	n/a
4	chr8:120220462-120220512	HL-60	blood:	n/a
5	chr8:120220462-120220512	K562	blood:	n/a
6	chr8:120220462-120220512	HUVEC	blood vessel:	n/a
7	chr8:120220462-120220512	NHDF-neo	bronchial:	n/a
8	chr8:120220462-120220512	HEEpiC	esophagus:	n/a
9	chr8:120220462-120220512	SK-N-MC	brain:	n/a
10	chr8:120220462-120220512	HNPCEpiC	eye:	n/a
11	chr8:120220462-120220512	GM12892	blood:	n/a
12	chr8:120220462-120220512	GM12878	blood:	n/a
13	chr8:120220462-120220512	A549	lung:	n/a
14	chr8:120220462-120220512	MCF10A-Er-Src	breast:	n/a
15	chr8:120220462-120220512	BJ	skin:	n/a
16	chr8:120220462-120220512	PrEC	prostate:	n/a
17	chr8:120220462-120220512	SK-N-SH	brain:	n/a
18	chr8:120220462-120220512	CMK	blood:	n/a
19	chr8:120220462-120220512	NH-A	brain:	n/a
20	chr8:120220462-120220512	NT2-D1	testis:	n/a
21	chr8:120220462-120220512	HRPEpiC	eye:	n/a
22	chr8:120220462-120220512	T-47D	breast:	n/a
23	chr8:120220462-120220512	HMEC	breast:	n/a
24	chr8:120220462-120220512	HCT-116	colon:	n/a
25	chr8:120220462-120220512	AG04449	skin:	fetal
26	chr8:120220462-120220512	NHBE	bronchial:	n/a
27	chr8:120220462-120220512	U87	brain:	n/a
28	chr8:120220462-120220512	AG04450	lung:	fetal
29	chr8:120220462-120220512	ProgFib	skin:	n/a
30	chr8:120220462-120220512	HAEpiC	amniotic membrane:	n/a
31	chr8:120220462-120220512	HCM	heart:	n/a
32	chr8:120220462-120220512	Hela-S3	cervix:	n/a
33	chr8:120220462-120220512	AG09309	skin:	n/a
34	chr8:120220462-120220512	AoSMC	blood vessel:	n/a
35	chr8:120220462-120220512	NB4	blood:	n/a
36	chr8:120220462-120220512	Caco-2	colon:	n/a
37	chr8:120220462-120220512	HCF	heart:	n/a
38	chr8:120220462-120220512	IMR90	lung:	fetal
39	chr8:120220462-120220512	HPAEpiC	pulmonary alveolar:	n/a
40	chr8:120220462-120220512	GM12891	blood:	n/a
41	chr8:120220462-120220512	AG10803	skin:	n/a
42	chr8:120220462-120220512	H1-hESC	embryonic stem cell:	embryo
43	chr8:120220462-120220512	AG09319	gingival:	n/a
44	chr8:120220462-120220512	Jurkat	blood:	n/a
45	chr8:120220462-120220512	HIPEpiC	eye:	n/a
46	chr8:120220462-120220512	HRCEpiC	kidney:	n/a
47	chr8:120220462-120220512	HRE	kidney:	n/a
48	chr8:120220462-120220512	PFSK-1	brain:	n/a
49	chr8:120220462-120220512	Hepatocyte	liver:	n/a
50	chr8:120220462-120220512	SKMC	muscle:	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:43483317..43484109-chr8:120219923..120220769,2	Hela-S3	cervix:
2	chr17:56707810..56710447-chr8:120218962..120221628,2	MCF-7	breast:
3	chr17:57923593..57925811-chr8:120219201..120221264,2	MCF-7	breast:

Variant related genes	Relation type
MAL2	TF binding region
MAL2	CpG island
ENSG00000249492	Chromatin interaction
ENSG00000151881	Chromatin interaction
ENSG00000201524	Chromatin interaction
ENSG00000212195	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758169	chr8:119943309-120275750	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv2759639	chr8:119943309-120275750	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv3394135	chr8:120219596-120222144	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120218800-120221600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
2	chr8:120219000-120221600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr8:120219200-120220800	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr8:120219600-120222200	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr8:120219800-120221400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr8:120219800-120221400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
7	chr8:120219800-120221600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
8	chr8:120219800-120222000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
9	chr8:120219800-120222200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
10	chr8:120220000-120220600	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:120220000-120220600	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr8:120220000-120220600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr8:120220000-120220600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:120220000-120220800	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr8:120220000-120221000	Active TSS	Right Atrium	heart
16	chr8:120220000-120221000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
17	chr8:120220000-120221000	Bivalent/Poised TSS	HUVEC	blood vessel
18	chr8:120220000-120221200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
19	chr8:120220000-120221200	Bivalent/Poised TSS	Colonic Mucosa	Colon
20	chr8:120220000-120221400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
21	chr8:120220000-120221400	Active TSS	Esophagus	oesophagus
22	chr8:120220000-120221400	Bivalent/Poised TSS	A549	lung
23	chr8:120220000-120221600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:120220000-120222000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
25	chr8:120220000-120222000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
26	chr8:120220000-120222200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr8:120220000-120222200	Bivalent/Poised TSS	Brain Angular Gyrus	brain
28	chr8:120220000-120222400	Bivalent/Poised TSS	Fetal Kidney	kidney
29	chr8:120220200-120220600	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr8:120220200-120220600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr8:120220200-120220600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:120220200-120220600	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr8:120220200-120220600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr8:120220200-120220600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
35	chr8:120220200-120220600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr8:120220200-120220600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr8:120220200-120220600	Flanking Active TSS	Right Ventricle	heart
38	chr8:120220200-120220600	Bivalent/Poised TSS	Thymus	Thymus
39	chr8:120220200-120220800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr8:120220200-120220800	Bivalent/Poised TSS	Ovary	ovary
41	chr8:120220200-120220800	Active TSS	HMEC	breast
42	chr8:120220200-120221200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr8:120220200-120221200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr8:120220200-120221200	Active TSS	Left Ventricle	heart
45	chr8:120220200-120221400	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr8:120220200-120221400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
47	chr8:120220200-120221600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
48	chr8:120220200-120221600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
49	chr8:120220200-120221600	ZNF genes & repeats	Spleen	Spleen
50	chr8:120220200-120221800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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