Variant report

Variant	rs148500776
Chromosome Location	chr8:120220245-120220246
allele	A/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	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
2	REST	chr8:120220153-120221133	H1-neurons	neurons:	n/a	chr8:120220878-120220891 chr8:120220606-120220624 chr8:120220436-120220456
3	NR2F2	chr8:120219815-120220778	MCF-7	breast:	n/a	n/a
4	POLR2A	chr8:120220143-120220519	Hela-S3	cervix:	n/a	n/a
5	USF1	chr8:120220150-120220740	H1-hESC	embryonic stem cell:	n/a	n/a
6	E2F1	chr8:120219988-120221009	Hela-S3	cervix:	n/a	chr8:120220285-120220299 chr8:120220523-120220532
7	MYC	chr8:120220232-120220685	MCF10A-Er-Src	breast:	n/a	chr8:120220543-120220552 chr8:120220545-120220554 chr8:120220544-120220555
8	POLR2A	chr8:120220170-120221672	ECC-1	luminal epithelium:	n/a	n/a
9	SMARCB1	chr8:120219945-120222244	Hela-S3	cervix:	n/a	chr8:120220236-120220245 chr8:120220112-120220121
10	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
11	RAD21	chr8:120220174-120220649	H1-hESC	embryonic stem cell:	n/a	chr8:120220417-120220430
12	CHD2	chr8:120220227-120222229	Hela-S3	cervix:	n/a	chr8:120221152-120221159 chr8:120220587-120220597 chr8:120221047-120221057
13	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
14	REST	chr8:120220206-120220721	ECC-1	luminal epithelium:	n/a	chr8:120220606-120220624 chr8:120220436-120220456
15	TAF1	chr8:120220217-120220731	H1-hESC	embryonic stem cell:	n/a	n/a
16	CHD2	chr8:120220127-120220591	H1-hESC	embryonic stem cell:	n/a	n/a
17	USF1	chr8:120220189-120220642	HepG2	liver:	n/a	n/a
18	REST	chr8:120220107-120220620	ECC-1	luminal epithelium:	n/a	chr8:120220436-120220456
19	MAX	chr8:120220063-120220641	H1-hESC	embryonic stem cell:	n/a	chr8:120220112-120220121 chr8:120220543-120220552 chr8:120220545-120220554 chr8:120220544-120220555
20	SMC3	chr8:120219944-120220582	Hela-S3	cervix:	n/a	n/a
21	YY1	chr8:120220235-120220620	H1-hESC	embryonic stem cell:	n/a	n/a
22	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
23	RCOR1	chr8:120220017-120220599	Hela-S3	cervix:	n/a	n/a
24	FOS	chr8:120218933-120220478	MCF10A-Er-Src	breast:	n/a	chr8:120219365-120219375 chr8:120220111-120220121 chr8:120219365-120219375 chr8:120220110-120220122 chr8:120220112-120220120 chr8:120219365-120219375 chr8:120220236-120220244
25	REST	chr8:120220224-120220580	H1-hESC	embryonic stem cell:	n/a	chr8:120220436-120220456
26	POLR2A	chr8:120220219-120220554	H1-hESC	embryonic stem cell:	n/a	n/a
27	HA-E2F1	chr8:120220213-120221220	Hela-S3	cervix:	n/a	chr8:120221152-120221159 chr8:120220285-120220299 chr8:120220523-120220532
28	POLR2A	chr8:120219852-120222242	HCT-116	colon:	n/a	n/a
29	SIN3AK20	chr8:120219146-120222455	MCF-7	breast:	n/a	n/a
30	TCF12	chr8:120220176-120220693	ECC-1	luminal epithelium:	n/a	chr8:120220483-120220490
31	CTCF	chr8:120220220-120220370	SAEC	small airway:	n/a	n/a
32	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
33	PML	chr8:120220193-120220694	MCF-7	breast:	n/a	n/a
34	EGR1	chr8:120219813-120221721	HCT-116	colon:	n/a	chr8:120220122-120220136 chr8:120221307-120221317 chr8:120220124-120220134 chr8:120220124-120220134 chr8:120221304-120221317 chr8:120221553-120221562 chr8:120220118-120220140 chr8:120220935-120220945
35	MAX	chr8:120219795-120222312	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
36	GTF2F1	chr8:120220044-120220487	Hela-S3	cervix:	n/a	n/a
37	HA-E2F1	chr8:120219870-120222214	MCF-7	breast:	n/a	chr8:120221998-120222007 chr8:120221152-120221159 chr8:120220285-120220299 chr8:120220523-120220532 chr8:120221309-120221321
38	BHLHE40	chr8:120220165-120222098	HepG2	liver:	n/a	n/a
39	BACH1	chr8:120219974-120220620	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr8:120220157-120221497	ECC-1	luminal epithelium:	n/a	n/a
41	USF1	chr8:120220234-120220731	H1-hESC	embryonic stem cell:	n/a	n/a
42	MXI1	chr8:120220120-120220613	Hela-S3	cervix:	n/a	chr8:120220546-120220555
43	TAF1	chr8:120220229-120220742	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr8:120220228-120220858	ProgFib	skin:	n/a	n/a
45	SIN3A	chr8:120220082-120222212	H1-hESC	embryonic stem cell:	n/a	chr8:120220414-120220427 chr8:120220411-120220420 chr8:120220544-120220553 chr8:120220531-120220544
46	POLR2A	chr8:120220148-120222379	H1-hESC	embryonic stem cell:	n/a	n/a
47	ZEB1	chr8:120220140-120220627	GM12878	blood:	n/a	chr8:120220482-120220494 chr8:120220483-120220494 chr8:120220533-120220545 chr8:120220535-120220542
48	GATA3	chr8:120219001-120220649	MCF-7	breast:	n/a	chr8:120220110-120220117
49	ZKSCAN1	chr8:120219282-120220624	Hela-S3	cervix:	n/a	n/a
50	FOS	chr8:120219964-120220643	MCF10A-Er-Src	breast:	n/a	chr8:120220111-120220121 chr8:120220110-120220122 chr8:120220112-120220120 chr8:120220236-120220244

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
ENSG00000201524	Chromatin interaction
ENSG00000151881	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000249492	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:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120218800-120220400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr8:120218800-120221600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
3	chr8:120219000-120220400	Flanking Active TSS	NHEK	skin
4	chr8:120219000-120221600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr8:120219200-120220800	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr8:120219400-120220400	Flanking Active TSS	Hela-S3	cervix
7	chr8:120219600-120220400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr8:120219600-120222200	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr8:120219800-120220400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
10	chr8:120219800-120220400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:120219800-120220400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr8:120219800-120220400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
13	chr8:120219800-120220400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
14	chr8:120219800-120221400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr8:120219800-120221400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
16	chr8:120219800-120221600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
17	chr8:120219800-120222000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
18	chr8:120219800-120222200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
19	chr8:120220000-120220400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
20	chr8:120220000-120220400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
21	chr8:120220000-120220400	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr8:120220000-120220400	Flanking Active TSS	Liver	Liver
23	chr8:120220000-120220400	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
24	chr8:120220000-120220400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
25	chr8:120220000-120220400	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
26	chr8:120220000-120220400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
27	chr8:120220000-120220400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
28	chr8:120220000-120220400	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
29	chr8:120220000-120220400	Flanking Active TSS	Fetal Intestine Small	intestine
30	chr8:120220000-120220400	Flanking Bivalent TSS/Enh	Placenta	Placenta
31	chr8:120220000-120220400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
32	chr8:120220000-120220400	Flanking Active TSS	Pancreas	Pancrea
33	chr8:120220000-120220400	Flanking Active TSS	Placenta Amnion	Placenta Amnion
34	chr8:120220000-120220400	Flanking Bivalent TSS/Enh	HepG2	liver
35	chr8:120220000-120220600	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:120220000-120220600	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr8:120220000-120220600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr8:120220000-120220600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr8:120220000-120220800	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr8:120220000-120221000	Active TSS	Right Atrium	heart
41	chr8:120220000-120221000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
42	chr8:120220000-120221000	Bivalent/Poised TSS	HUVEC	blood vessel
43	chr8:120220000-120221200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
44	chr8:120220000-120221200	Bivalent/Poised TSS	Colonic Mucosa	Colon
45	chr8:120220000-120221400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
46	chr8:120220000-120221400	Active TSS	Esophagus	oesophagus
47	chr8:120220000-120221400	Bivalent/Poised TSS	A549	lung
48	chr8:120220000-120221600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr8:120220000-120222000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
50	chr8:120220000-120222000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum

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