Variant report

Variant	esv3480556
Chromosome Location	chr8:95646880-95648972
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr8:95647295-95647614	K562	blood:	n/a	n/a
2	CTCF	chr8:95646900-95646978	GM13976	blood:	n/a	n/a
3	GATA2	chr8:95647289-95647550	K562	blood:	n/a	n/a
4	MAX	chr8:95647315-95647661	NB4	blood:	n/a	n/a
5	MYC	chr8:95647366-95647538	K562	blood:	n/a	n/a
6	MYC	chr8:95647340-95647635	NB4	blood:	n/a	n/a
7	SPI1	chr8:95647186-95647634	HL-60	blood:	n/a	chr8:95647423-95647432 chr8:95647421-95647434 chr8:95647420-95647433
8	SPI1	chr8:95647343-95647505	K562	blood:	n/a	chr8:95647423-95647432 chr8:95647421-95647434 chr8:95647420-95647433
9	SPI1	chr8:95647342-95647551	K562	blood:	n/a	chr8:95647423-95647432 chr8:95647421-95647434 chr8:95647420-95647433
10	TAL1	chr8:95647332-95647571	K562	blood:	n/a	n/a
11	TBL1XR1	chr8:95647419-95647702	K562	blood:	n/a	n/a
12	TEAD4	chr8:95647263-95647667	K562	blood:	n/a	n/a
13	ZNF384	chr8:95647233-95647542	K562	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:95648314-95648364	HepG2	liver:	n/a
2	chr8:95648314-95648364	LNCaP	prostate:	n/a
3	chr8:95648314-95648364	BJ	skin:	n/a
4	chr8:95648314-95648364	HEEpiC	esophagus:	n/a
5	chr8:95648314-95648364	Caco-2	colon:	n/a
6	chr8:95648491-95648541	GM06990	blood:	n/a
7	chr8:95648314-95648364	Hepatocyte	liver:	n/a
8	chr8:95648491-95648541	K562	blood:	n/a
9	chr8:95648491-95648541	Hela-S3	cervix:	n/a
10	chr8:95648314-95648364	HCT-116	colon:	n/a
11	chr8:95648491-95648541	T-47D	breast:	n/a
12	chr8:95648491-95648541	HL-60	blood:	n/a
13	chr8:95648491-95648541	AG04450	lung:	fetal
14	chr8:95648491-95648541	SAEC	small airway:	n/a
15	chr8:95648491-95648541	HRPEpiC	eye:	n/a
16	chr8:95648314-95648364	AG04450	lung:	fetal
17	chr8:95648314-95648364	H1-hESC	embryonic stem cell:	embryo
18	chr8:95648491-95648541	AG04449	skin:	fetal
19	chr8:95648314-95648364	ProgFib	skin:	n/a
20	chr8:95648491-95648541	NHDF-neo	bronchial:	n/a
21	chr8:95648491-95648541	Hepatocyte	liver:	n/a
22	chr8:95648491-95648541	HAEpiC	amniotic membrane:	n/a
23	chr8:95648491-95648541	SK-N-SH_RA	brain:	n/a
24	chr8:95648491-95648541	CMK	blood:	n/a
25	chr8:95648491-95648541	HepG2	liver:	n/a
26	chr8:95648314-95648364	ovcar-3	ovarian:	n/a
27	chr8:95648491-95648541	AG10803	skin:	n/a
28	chr8:95648491-95648541	SK-N-MC	brain:	n/a
29	chr8:95648491-95648541	SK-N-SH	brain:	n/a
30	chr8:95648491-95648541	HNPCEpiC	eye:	n/a
31	chr8:95648314-95648364	SK-N-SH_RA	brain:	n/a
32	chr8:95648314-95648364	AG10803	skin:	n/a
33	chr8:95648491-95648541	HCPEpiC	choroid plexus:	n/a
34	chr8:95648314-95648364	Hela-S3	cervix:	n/a
35	chr8:95648491-95648541	H1-hESC	embryonic stem cell:	embryo
36	chr8:95648491-95648541	RPTEC	kidney:	n/a
37	chr8:95648314-95648364	SK-N-SH	brain:	n/a
38	chr8:95648314-95648364	U87	brain:	n/a
39	chr8:95648314-95648364	IMR90	lung:	fetal
40	chr8:95648314-95648364	CMK	blood:	n/a
41	chr8:95648491-95648541	PFSK-1	brain:	n/a
42	chr8:95648491-95648541	HRE	kidney:	n/a
43	chr8:95648491-95648541	HEK293	kidney:	embryo
44	chr8:95648314-95648364	K562	blood:	n/a
45	chr8:95648491-95648541	MCF-7	breast:	n/a
46	chr8:95648491-95648541	AG09319	gingival:	n/a
47	chr8:95648314-95648364	NHBE	bronchial:	n/a
48	chr8:95648314-95648364	SK-N-MC	brain:	n/a
49	chr8:95648314-95648364	AoSMC	blood vessel:	n/a
50	chr8:95648314-95648364	GM12878	blood:	n/a

No data

Variant related genes	Relation type
ESRP1	TF binding region
ESRP1	CpG island

Extended variants
information (count: 88 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571774112	chr8:95646891-95646892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs534442433	chr8:95646909-95646910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554530058	chr8:95646915-95646916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs199838387	chr8:95646966-95646967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552021801	chr8:95646968-95646969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188032828	chr8:95646975-95646976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563623586	chr8:95646980-95646981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111310654	chr8:95647067-95647068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191304384	chr8:95647134-95647135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560416726	chr8:95647168-95647169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182390144	chr8:95647194-95647195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369171685	chr8:95647201-95647202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528555327	chr8:95647206-95647207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540631054	chr8:95647229-95647230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs148953439	chr8:95647252-95647253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562098734	chr8:95647262-95647263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530848470	chr8:95647285-95647286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139641839	chr8:95647309-95647310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs75363370	chr8:95647337-95647338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200519333	chr8:95647351-95647352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376502819	chr8:95647352-95647353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570770582	chr8:95647388-95647389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs117742438	chr8:95647412-95647413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568371574	chr8:95647413-95647414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs62523381	chr8:95647447-95647448	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs566751773	chr8:95647464-95647465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77226809	chr8:95647465-95647466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557287991	chr8:95647466-95647467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs62523382	chr8:95647481-95647482	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs574373212	chr8:95647548-95647549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142942428	chr8:95647553-95647554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558911666	chr8:95647676-95647677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370709605	chr8:95647677-95647678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs78468234	chr8:95647687-95647688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557003727	chr8:95647703-95647704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192695887	chr8:95647704-95647705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147724136	chr8:95647743-95647744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs13262758	chr8:95647792-95647793	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs572987817	chr8:95647793-95647794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373831002	chr8:95647796-95647797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs36129020	chr8:95647974-95647975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs36165138	chr8:95647976-95647977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs114703548	chr8:95648017-95648018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370790835	chr8:95648026-95648027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562087702	chr8:95648124-95648125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550135757	chr8:95648139-95648140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531044068	chr8:95648149-95648150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs142510849	chr8:95648198-95648199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564163632	chr8:95648199-95648200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371690097	chr8:95648205-95648206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16461302	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	17847001	CNVD
Neuropsychiatric disorder	20069037	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Colorectal cancer	21645411	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Breast cancer	17142309	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95636000-95650800	Weak transcription	Pancreas	Pancrea
2	chr8:95646000-95650200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr8:95646200-95650200	Weak transcription	Rectal Mucosa Donor 31	rectum

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