Variant report

Variant	rs35703322
Chromosome Location	chr8:120220668-120220669
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	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	REST	chr8:120220153-120221133	H1-neurons	neurons:	n/a	chr8:120220878-120220891 chr8:120220606-120220624 chr8:120220436-120220456
4	NR2F2	chr8:120219815-120220778	MCF-7	breast:	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	USF1	chr8:120220341-120220670	HepG2	liver:	n/a	n/a
8	MYC	chr8:120220232-120220685	MCF10A-Er-Src	breast:	n/a	chr8:120220543-120220552 chr8:120220545-120220554 chr8:120220544-120220555
9	POLR2A	chr8:120220170-120221672	ECC-1	luminal epithelium:	n/a	n/a
10	SMARCB1	chr8:120219945-120222244	Hela-S3	cervix:	n/a	chr8:120220236-120220245 chr8:120220112-120220121
11	POLR2A	chr8:120220403-120221016	H1-neurons	neurons:	n/a	n/a
12	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
13	CHD2	chr8:120220227-120222229	Hela-S3	cervix:	n/a	chr8:120221152-120221159 chr8:120220587-120220597 chr8:120221047-120221057
14	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
15	REST	chr8:120220206-120220721	ECC-1	luminal epithelium:	n/a	chr8:120220606-120220624 chr8:120220436-120220456
16	TAF1	chr8:120220217-120220731	H1-hESC	embryonic stem cell:	n/a	n/a
17	USF2	chr8:120220319-120220687	HepG2	liver:	n/a	n/a
18	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
19	HA-E2F1	chr8:120220213-120221220	Hela-S3	cervix:	n/a	chr8:120221152-120221159 chr8:120220285-120220299 chr8:120220523-120220532
20	POLR2A	chr8:120219852-120222242	HCT-116	colon:	n/a	n/a
21	YY1	chr8:120220647-120221740	ECC-1	luminal epithelium:	n/a	chr8:120221237-120221245 chr8:120221234-120221244
22	SIN3AK20	chr8:120219146-120222455	MCF-7	breast:	n/a	n/a
23	TCF12	chr8:120220176-120220693	ECC-1	luminal epithelium:	n/a	chr8:120220483-120220490
24	ATF3	chr8:120220315-120220714	HepG2	liver:	n/a	chr8:120220554-120220563 chr8:120220545-120220565
25	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
26	NANOG	chr8:120220365-120220710	H1-hESC	embryonic stem cell:	n/a	n/a
27	PML	chr8:120220193-120220694	MCF-7	breast:	n/a	n/a
28	USF2	chr8:120220287-120220718	H1-hESC	embryonic stem cell:	n/a	n/a
29	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
30	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
31	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
32	MAX	chr8:120220304-120220684	HepG2	liver:	n/a	chr8:120220543-120220552 chr8:120220545-120220554 chr8:120220544-120220555
33	BHLHE40	chr8:120220165-120222098	HepG2	liver:	n/a	n/a
34	YY1	chr8:120220668-120221690	ECC-1	luminal epithelium:	n/a	chr8:120221237-120221245 chr8:120221234-120221244
35	YY1	chr8:120220412-120221495	HepG2	liver:	n/a	chr8:120221237-120221245 chr8:120221234-120221244
36	POLR2A	chr8:120220157-120221497	ECC-1	luminal epithelium:	n/a	n/a
37	USF1	chr8:120220234-120220731	H1-hESC	embryonic stem cell:	n/a	n/a
38	TAF1	chr8:120220229-120220742	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr8:120220529-120220830	HepG2	liver:	n/a	n/a
40	POLR2A	chr8:120220228-120220858	ProgFib	skin:	n/a	n/a
41	TBP	chr8:120220308-120222139	H1-hESC	embryonic stem cell:	n/a	n/a
42	SIN3A	chr8:120220082-120222212	H1-hESC	embryonic stem cell:	n/a	chr8:120220414-120220427 chr8:120220411-120220420 chr8:120220544-120220553 chr8:120220531-120220544
43	POLR2A	chr8:120220148-120222379	H1-hESC	embryonic stem cell:	n/a	n/a
44	USF2	chr8:120220261-120220685	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr8:120220031-120221521	MCF-7	breast:	n/a	n/a
46	CEBPB	chr8:120220260-120220724	MCF-7	breast:	n/a	n/a
47	MAZ	chr8:120220265-120222201	Hela-S3	cervix:	n/a	chr8:120221307-120221317 chr8:120220934-120220944 chr8:120220955-120220963 chr8:120220543-120220552 chr8:120221754-120221763 chr8:120220545-120220554 chr8:120220544-120220555
48	USF1	chr8:120219850-120222199	HCT-116	colon:	n/a	chr8:120220095-120220111
49	POLR2A	chr8:120218818-120224415	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr8:120219146-120222127	MCF10A-Er-Src	breast:	n/a	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
ENSG00000249492	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000201524	Chromatin interaction
ENSG00000151881	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:97 , 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	chr8:120220000-120220800	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr8:120220000-120221000	Active TSS	Right Atrium	heart
12	chr8:120220000-120221000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
13	chr8:120220000-120221000	Bivalent/Poised TSS	HUVEC	blood vessel
14	chr8:120220000-120221200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
15	chr8:120220000-120221200	Bivalent/Poised TSS	Colonic Mucosa	Colon
16	chr8:120220000-120221400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
17	chr8:120220000-120221400	Active TSS	Esophagus	oesophagus
18	chr8:120220000-120221400	Bivalent/Poised TSS	A549	lung
19	chr8:120220000-120221600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:120220000-120222000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
21	chr8:120220000-120222000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
22	chr8:120220000-120222200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr8:120220000-120222200	Bivalent/Poised TSS	Brain Angular Gyrus	brain
24	chr8:120220000-120222400	Bivalent/Poised TSS	Fetal Kidney	kidney
25	chr8:120220200-120220800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr8:120220200-120220800	Bivalent/Poised TSS	Ovary	ovary
27	chr8:120220200-120220800	Active TSS	HMEC	breast
28	chr8:120220200-120221200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr8:120220200-120221200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr8:120220200-120221200	Active TSS	Left Ventricle	heart
31	chr8:120220200-120221400	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:120220200-120221400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
33	chr8:120220200-120221600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
34	chr8:120220200-120221600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
35	chr8:120220200-120221600	ZNF genes & repeats	Spleen	Spleen
36	chr8:120220200-120221800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr8:120220200-120222000	Active TSS	H9 Cell Line	embryonic stem cell
38	chr8:120220200-120222000	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
39	chr8:120220200-120222000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
40	chr8:120220200-120222400	Active TSS	Gastric	stomach
41	chr8:120220400-120220800	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
42	chr8:120220400-120220800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr8:120220400-120220800	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
44	chr8:120220400-120220800	Active TSS	Adipose Nuclei	Adipose
45	chr8:120220400-120220800	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
46	chr8:120220400-120220800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
47	chr8:120220400-120220800	Bivalent/Poised TSS	Osteobl	bone
48	chr8:120220400-120221000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr8:120220400-120221000	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr8:120220400-120221000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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