Variant report

Variant	esv20977
Chromosome Location	chr8:1575157-1577002
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF1	chr8:1575781-1577038	H1-hESC	embryonic stem cell:	n/a	n/a
2	TEAD4	chr8:1575824-1576296	H1-hESC	embryonic stem cell:	n/a	n/a
3	TEAD4	chr8:1575758-1576720	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:1575750-1575800	NHBE	bronchial:	n/a
2	chr8:1575750-1575800	HMEC	breast:	n/a
3	chr8:1575750-1575800	SK-N-SH	brain:	n/a
4	chr8:1575750-1575800	H1-hESC	embryonic stem cell:	embryo
5	chr8:1575750-1575800	PFSK-1	brain:	n/a
6	chr8:1575750-1575800	SAEC	small airway:	n/a
7	chr8:1575750-1575800	HRPEpiC	eye:	n/a
8	chr8:1575750-1575800	AG10803	skin:	n/a
9	chr8:1575750-1575800	HepG2	liver:	n/a
10	chr8:1575750-1575800	HRCEpiC	kidney:	n/a
11	chr8:1575750-1575800	Jurkat	blood:	n/a
12	chr8:1575750-1575800	ECC-1	luminal epithelium:	n/a
13	chr8:1575750-1575800	BJ	skin:	n/a
14	chr8:1575750-1575800	GM19239	blood:	n/a
15	chr8:1575750-1575800	NT2-D1	testis:	n/a
16	chr8:1575750-1575800	GM06990	blood:	n/a
17	chr8:1575750-1575800	MCF-7	breast:	n/a
18	chr8:1575750-1575800	K562	blood:	n/a
19	chr8:1575750-1575800	A549	lung:	n/a
20	chr8:1575750-1575800	ProgFib	skin:	n/a
21	chr8:1575750-1575800	T-47D	breast:	n/a
22	chr8:1575750-1575800	HCPEpiC	choroid plexus:	n/a
23	chr8:1575750-1575800	HRE	kidney:	n/a
24	chr8:1575750-1575800	HPAEpiC	pulmonary alveolar:	n/a
25	chr8:1575750-1575800	IMR90	lung:	fetal
26	chr8:1575750-1575800	HL-60	blood:	n/a
27	chr8:1575750-1575800	BE2_C	brain:	n/a
28	chr8:1575750-1575800	HCT-116	colon:	n/a
29	chr8:1575750-1575800	AG09309	skin:	n/a
30	chr8:1575750-1575800	AG04449	skin:	fetal
31	chr8:1575750-1575800	HCF	heart:	n/a
32	chr8:1575750-1575800	HUVEC	blood vessel:	n/a
33	chr8:1575750-1575800	NH-A	brain:	n/a
34	chr8:1575750-1575800	U87	brain:	n/a
35	chr8:1575750-1575800	SK-N-MC	brain:	n/a
36	chr8:1575750-1575800	GM12878	blood:	n/a
37	chr8:1575750-1575800	AG09319	gingival:	n/a
38	chr8:1575750-1575800	NB4	blood:	n/a
39	chr8:1575750-1575800	Caco-2	colon:	n/a
40	chr8:1575750-1575800	PrEC	prostate:	n/a
41	chr8:1575750-1575800	LNCaP	prostate:	n/a
42	chr8:1575750-1575800	SKMC	muscle:	n/a
43	chr8:1575750-1575800	RPTEC	kidney:	n/a
44	chr8:1575750-1575800	GM12892	blood:	n/a
45	chr8:1575750-1575800	HIPEpiC	eye:	n/a
46	chr8:1575750-1575800	AG04450	lung:	fetal
47	chr8:1575750-1575800	NHDF-neo	bronchial:	n/a
48	chr8:1575750-1575800	HCM	heart:	n/a
49	chr8:1575750-1575800	HNPCEpiC	eye:	n/a
50	chr8:1575750-1575800	Hepatocyte	liver:	n/a

No data

Variant related genes	Relation type
ENSG00000253267	TF binding region
ENSG00000253267	CpG island

Extended variants
information (count: 189 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:189 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78610085	chr8:1575181-1575182	Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs560331767	chr8:1575182-1575183	Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs35821406	chr8:1575196-1575197	Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs188043535	chr8:1575197-1575198	Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs193248222	chr8:1575198-1575199	Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs75404598	chr8:1575233-1575234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562984147	chr8:1575236-1575237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184454924	chr8:1575250-1575251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs149880024	chr8:1575251-1575252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550807201	chr8:1575259-1575260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555059506	chr8:1575272-1575273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs117088900	chr8:1575286-1575287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73543229	chr8:1575301-1575302	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs147212275	chr8:1575306-1575307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs189389607	chr8:1575307-1575308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs540213077	chr8:1575328-1575329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs192735260	chr8:1575368-1575369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs112972852	chr8:1575384-1575385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs542214048	chr8:1575391-1575392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs562039506	chr8:1575406-1575407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140590117	chr8:1575420-1575421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551042264	chr8:1575436-1575437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564165276	chr8:1575442-1575443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564571013	chr8:1575451-1575452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533521802	chr8:1575452-1575453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528288022	chr8:1575455-1575456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs147822163	chr8:1575461-1575462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs59672648	chr8:1575466-1575467	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs546407781	chr8:1575486-1575487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs367668141	chr8:1575489-1575490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548596525	chr8:1575492-1575493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568498162	chr8:1575493-1575494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537592494	chr8:1575504-1575505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184779288	chr8:1575506-1575507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188976432	chr8:1575522-1575523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571358368	chr8:1575555-1575556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371106285	chr8:1575563-1575564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533950427	chr8:1575582-1575583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs79158454	chr8:1575621-1575622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs116587430	chr8:1575624-1575625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142301600	chr8:1575648-1575649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181678624	chr8:1575657-1575658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561433238	chr8:1575658-1575659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185859508	chr8:1575660-1575661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546006967	chr8:1575665-1575666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375791955	chr8:1575666-1575667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528923934	chr8:1575674-1575675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564562461	chr8:1575710-1575711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs73671262	chr8:1575724-1575725	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs551577152	chr8:1575750-1575751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Cancer	18840272	CNVD
Pilocytic astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Breast cancer	20932292	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ependymoma	20639864	CNVD
Ovarian cancer	22355333	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1570400-1579800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr8:1574800-1575200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:1575000-1575200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr8:1575200-1575400	Enhancers	Spleen	Spleen
5	chr8:1575200-1599400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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