Variant report

Variant	esv1801675
Chromosome Location	chr4:9324643-9370511
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:183)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr4:9352626-9352812	HepG2	liver:	n/a	n/a
2	CTCF	chr4:9326000-9326150	GM12872	blood:	n/a	n/a
3	CTCF	chr4:9352700-9352850	BE2_C	brain:	n/a	n/a
4	FOXA2	chr4:9362075-9362457	A549	lung:	n/a	n/a
5	FOXA2	chr4:9333141-9333566	A549	lung:	n/a	n/a
6	FOXA2	chr4:9361079-9361418	A549	lung:	n/a	n/a
7	MAX	chr4:9352797-9352823	HepG2	liver:	n/a	n/a
8	MYC	chr4:9326103-9326140	NB4	blood:	n/a	n/a
9	NFE2	chr4:9326098-9326122	GM12878	blood:	n/a	n/a
10	POLR2A	chr4:9325931-9326126	MCF10A-Er-Src	breast:	n/a	n/a
11	RCOR1	chr4:9352777-9352815	HepG2	liver:	n/a	n/a
12	ZBTB33	chr4:9343094-9343196	HepG2	liver:	n/a	n/a
13	ZBTB33	chr4:9328856-9328958	HepG2	liver:	n/a	n/a
14	ZBTB33	chr4:9357329-9357431	HepG2	liver:	n/a	n/a
15	ZBTB33	chr4:9347839-9347941	HepG2	liver:	n/a	n/a
16	ZBTB33	chr4:9338349-9338451	HepG2	liver:	n/a	n/a
17	ZBTB33	chr4:9362074-9362176	HepG2	liver:	n/a	n/a
18	ZBTB33	chr4:9366820-9366922	HepG2	liver:	n/a	n/a
19	ZBTB33	chr4:9333602-9333704	HepG2	liver:	n/a	n/a
20	ZBTB33	chr4:9352584-9352686	HepG2	liver:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:9355372-9355422	SK-N-MC	brain:	n/a
2	chr4:9355372-9355422	PANC-1	pancreas:	n/a
3	chr4:9355372-9355422	HRPEpiC	eye:	n/a
4	chr4:9355372-9355422	PrEC	prostate:	n/a
5	chr4:9355351-9355401	AG04449	skin:	fetal
6	chr4:9352827-9352877	AG04449	skin:	fetal
7	chr4:9355351-9355401	GM12892	blood:	n/a
8	chr4:9352827-9352877	HEEpiC	esophagus:	n/a
9	chr4:9355351-9355401	ECC-1	luminal epithelium:	n/a
10	chr4:9355351-9355401	GM06990	blood:	n/a
11	chr4:9355351-9355401	MCF-7	breast:	n/a
12	chr4:9355351-9355401	PFSK-1	brain:	n/a
13	chr4:9355351-9355401	BJ	skin:	n/a
14	chr4:9352827-9352877	GM12891	blood:	n/a
15	chr4:9355372-9355422	NB4	blood:	n/a
16	chr4:9352827-9352877	BE2_C	brain:	n/a
17	chr4:9355372-9355422	MCF10A-Er-Src	breast:	n/a
18	chr4:9352827-9352877	AG10803	skin:	n/a
19	chr4:9355372-9355422	HCM	heart:	n/a
20	chr4:9352827-9352877	AG09319	gingival:	n/a
21	chr4:9355351-9355401	SK-N-SH	brain:	n/a
22	chr4:9352827-9352877	NH-A	brain:	n/a
23	chr4:9352827-9352877	SK-N-SH_RA	brain:	n/a
24	chr4:9352827-9352877	IMR90	lung:	fetal
25	chr4:9352827-9352877	HPAEpiC	pulmonary alveolar:	n/a
26	chr4:9355372-9355422	CMK	blood:	n/a
27	chr4:9352827-9352877	SK-N-MC	brain:	n/a
28	chr4:9355372-9355422	RPTEC	kidney:	n/a
29	chr4:9352827-9352877	HNPCEpiC	eye:	n/a
30	chr4:9355372-9355422	AG09309	skin:	n/a
31	chr4:9355351-9355401	IMR90	lung:	fetal
32	chr4:9355372-9355422	GM12878	blood:	n/a
33	chr4:9355351-9355401	AG09319	gingival:	n/a
34	chr4:9355351-9355401	AG09309	skin:	n/a
35	chr4:9352827-9352877	MCF10A-Er-Src	breast:	n/a
36	chr4:9352827-9352877	HepG2	liver:	n/a
37	chr4:9352827-9352877	NHBE	bronchial:	n/a
38	chr4:9352827-9352877	PFSK-1	brain:	n/a
39	chr4:9355372-9355422	A549	lung:	n/a
40	chr4:9355351-9355401	HRCEpiC	kidney:	n/a
41	chr4:9352827-9352877	ProgFib	skin:	n/a
42	chr4:9355351-9355401	GM19239	blood:	n/a
43	chr4:9355372-9355422	PFSK-1	brain:	n/a
44	chr4:9355372-9355422	Hepatocyte	liver:	n/a
45	chr4:9355351-9355401	HCPEpiC	choroid plexus:	n/a
46	chr4:9355351-9355401	ProgFib	skin:	n/a
47	chr4:9352827-9352877	SKMC	muscle:	n/a
48	chr4:9355351-9355401	H1-hESC	embryonic stem cell:	embryo
49	chr4:9352827-9352877	NT2-D1	testis:	n/a
50	chr4:9355351-9355401	HEEpiC	esophagus:	n/a

No data

Variant related genes	Relation type
USP17L24	TF binding region
USP17L29	TF binding region
USP17L9P	TF binding region
USP17L5	TF binding region
USP17L30	TF binding region
USP17L26	TF binding region
USP17L25	TF binding region
USP17L6P	TF binding region
USP17L27	TF binding region
USP17L28	TF binding region
USP17L24	CpG island
USP17L29	CpG island
USP17L9P	CpG island
USP17L5	CpG island
USP17L30	CpG island
USP17L26	CpG island
USP17L25	CpG island
USP17L6P	CpG island
USP17L27	CpG island
USP17L28	CpG island

Extended variants
information (count: 69 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369977695	chr4:9325935-9325936	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs145207877	chr4:9325940-9325941	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs142143794	chr4:9325956-9325957	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs151223510	chr4:9325957-9325958	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs139186150	chr4:9325967-9325968	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs144636811	chr4:9325968-9325969	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs147642755	chr4:9325984-9325985	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs147873271	chr4:9325987-9325988	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs142231502	chr4:9326041-9326042	ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs111262992	chr4:9326046-9326047	ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs141676001	chr4:9326095-9326096	ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs147061553	chr4:9326109-9326110	ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs145375663	chr4:9326117-9326118	ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs149194340	chr4:9326122-9326123	ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs138657043	chr4:9326127-9326128	ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs143326501	chr4:9326137-9326138	ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs201683960	chr4:9326153-9326154	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
18	rs57310149	chr4:9326159-9326160	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
19	rs148380449	chr4:9326160-9326161	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
20	rs142230279	chr4:9326169-9326170	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
21	rs564748731	chr4:9326177-9326178	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
22	rs528771909	chr4:9326178-9326179	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
23	rs374931243	chr4:9326185-9326186	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
24	rs145274378	chr4:9326187-9326188	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
25	rs137880374	chr4:9326188-9326189	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
26	rs142496046	chr4:9326199-9326200	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
27	rs141165282	chr4:9328902-9328903	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs144874970	chr4:9328911-9328912	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs138736333	chr4:9328921-9328922	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs141220871	chr4:9328923-9328924	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs139077567	chr4:9333308-9333309	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs149514246	chr4:9333320-9333321	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs144019747	chr4:9333355-9333356	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs148697909	chr4:9333392-9333393	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs144512985	chr4:9333398-9333399	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs147677639	chr4:9333469-9333470	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs140724755	chr4:9333495-9333496	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs144572851	chr4:9333528-9333529	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs150045455	chr4:9333648-9333649	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs145329033	chr4:9333657-9333658	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs149231486	chr4:9333667-9333668	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs145166844	chr4:9333669-9333670	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs201282879	chr4:9352692-9352693	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs199777440	chr4:9352801-9352802	Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs538004740	chr4:9355388-9355389	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
46	rs528711746	chr4:9361104-9361105	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs148542026	chr4:9361112-9361113	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs546949225	chr4:9361123-9361124	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs562382092	chr4:9361166-9361167	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs200909464	chr4:9361177-9361178	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Melanoma	20688739	CNVD
Wilms tumour	21544195	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Sezary syndrome	18413736	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	21858162	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:9326000-9326200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:9326000-9326200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:9326000-9326200	ZNF genes & repeats	Adipose Nuclei	Adipose
4	chr4:9326000-9326200	ZNF genes & repeats	Aorta	Aorta
5	chr4:9326000-9326200	ZNF genes & repeats	Brain Cingulate Gyrus	brain
6	chr4:9326000-9326200	ZNF genes & repeats	Brain Hippocampus Middle	brain
7	chr4:9326000-9326200	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
8	chr4:9326000-9326200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
9	chr4:9326000-9326200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
10	chr4:9326000-9326200	ZNF genes & repeats	Gastric	stomach
11	chr4:9326000-9326200	ZNF genes & repeats	Left Ventricle	heart
12	chr4:9326000-9326200	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
13	chr4:9326000-9326200	ZNF genes & repeats	Stomach Mucosa	stomach
14	chr4:9326000-9326200	ZNF genes & repeats	Spleen	Spleen
15	chr4:9352600-9352800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr4:9352600-9353000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr4:9352600-9353000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:9352600-9353000	ZNF genes & repeats	Gastric	stomach
19	chr4:9352600-9353000	ZNF genes & repeats	Pancreas	Pancrea
20	chr4:9352600-9353000	ZNF genes & repeats	Spleen	Spleen
21	chr4:9352800-9353000	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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