Variant report

Variant	esv15681
Chromosome Location	chr8:1574852-1590095
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:36)
CpG islands
(count:1406)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:36 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr8:1583024-1583221	GM12878	blood:	n/a	chr8:1583128-1583139
2	BHLHE40	chr8:1589261-1589514	K562	blood:	n/a	chr8:1589361-1589370 chr8:1589362-1589371 chr8:1589355-1589376 chr8:1589361-1589370
3	CEBPB	chr8:1580668-1580977	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr8:1580676-1580906	HepG2	liver:	n/a	n/a
5	CEBPB	chr8:1577269-1577487	HepG2	liver:	n/a	chr8:1577393-1577404 chr8:1577393-1577406 chr8:1577395-1577406 chr8:1577393-1577406 chr8:1577395-1577404
6	CTCF	chr8:1574740-1574920	K562	blood:	n/a	n/a
7	CTCF	chr8:1574798-1574892	MCF-7	breast:	n/a	n/a
8	ELK1	chr8:1582547-1582567	Hela-S3	cervix:	n/a	n/a
9	ELK1	chr8:1589785-1589810	K562	blood:	n/a	n/a
10	EP300	chr8:1577960-1577963	GM12878	blood:	n/a	n/a
11	FOXA1	chr8:1579869-1580116	HepG2	liver:	n/a	chr8:1580014-1580029
12	FOXA1	chr8:1579783-1580115	HepG2	liver:	n/a	chr8:1580014-1580029
13	FOXA1	chr8:1579905-1580112	HepG2	liver:	n/a	chr8:1580014-1580029
14	FOXA1	chr8:1579880-1580100	T-47D	breast:	n/a	chr8:1580014-1580029
15	FOXA1	chr8:1579862-1580193	HepG2	liver:	n/a	chr8:1580014-1580029
16	FOXA1	chr8:1581553-1581686	T-47D	breast:	n/a	n/a
17	FOXA2	chr8:1579857-1580107	HepG2	liver:	n/a	n/a
18	JUND	chr8:1581537-1581603	H1-hESC	embryonic stem cell:	n/a	n/a
19	KAP1	chr8:1581265-1582253	U2OS	brain:	n/a	chr8:1581849-1581857
20	KAP1	chr8:1581108-1582241	HEK293	kidney:	n/a	chr8:1581849-1581857
21	MAX	chr8:1589296-1589441	K562	blood:	n/a	chr8:1589356-1589375 chr8:1589359-1589372
22	MYC	chr8:1580041-1580126	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr8:1588534-1588638	MCF-7	breast:	n/a	n/a
24	POLR2A	chr8:1587955-1588306	PFSK-1	brain:	n/a	n/a
25	POLR2A	chr8:1581113-1581162	MCF-7	breast:	n/a	n/a
26	POLR2A	chr8:1587027-1587070	MCF-7	breast:	n/a	n/a
27	POLR2A	chr8:1581057-1581091	A549	lung:	n/a	n/a
28	POLR2A	chr8:1581071-1581109	MCF-7	breast:	n/a	n/a
29	POLR2A	chr8:1581183-1581189	MCF-7	breast:	n/a	n/a
30	POLR2A	chr8:1581204-1581209	MCF-7	breast:	n/a	n/a
31	RAD21	chr8:1574661-1575044	H1-hESC	embryonic stem cell:	n/a	n/a
32	RAD21	chr8:1574835-1575025	H1-hESC	embryonic stem cell:	n/a	n/a
33	RFX5	chr8:1584888-1584906	K562	blood:	n/a	n/a
34	TAF1	chr8:1575781-1577038	H1-hESC	embryonic stem cell:	n/a	n/a
35	TEAD4	chr8:1575824-1576296	H1-hESC	embryonic stem cell:	n/a	n/a
36	TEAD4	chr8:1575758-1576720	H1-hESC	embryonic stem cell:	n/a	n/a

(count:1406 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:1585929-1585979	ProgFib	skin:	n/a
2	chr8:1580998-1581048	NB4	blood:	n/a
3	chr8:1585876-1585926	SKMC	muscle:	n/a
4	chr8:1585929-1585979	ProgFib	skin:	n/a
5	chr8:1580998-1581048	NB4	blood:	n/a
6	chr8:1585876-1585926	SKMC	muscle:	n/a
7	chr8:1580998-1581048	HCM	heart:	n/a
8	chr8:1581598-1581648	SAEC	small airway:	n/a
9	chr8:1575750-1575800	NH-A	brain:	n/a
10	chr8:1588899-1588949	IMR90	lung:	fetal
11	chr8:1588899-1588949	HCF	heart:	n/a
12	chr8:1589365-1589415	GM19239	blood:	n/a
13	chr8:1588822-1588872	MCF-7	breast:	n/a
14	chr8:1581647-1581697	HL-60	blood:	n/a
15	chr8:1585929-1585979	SKMC	muscle:	n/a
16	chr8:1579180-1579230	ECC-1	luminal epithelium:	n/a
17	chr8:1588403-1588453	PANC-1	pancreas:	n/a
18	chr8:1588618-1588668	HCF	heart:	n/a
19	chr8:1585146-1585196	PrEC	prostate:	n/a
20	chr8:1585260-1585310	AG04450	lung:	fetal
21	chr8:1575750-1575800	NT2-D1	testis:	n/a
22	chr8:1585876-1585926	U87	brain:	n/a
23	chr8:1581598-1581648	HPAEpiC	pulmonary alveolar:	n/a
24	chr8:1585876-1585926	BE2_C	brain:	n/a
25	chr8:1581568-1581618	HNPCEpiC	eye:	n/a
26	chr8:1581647-1581697	HRE	kidney:	n/a
27	chr8:1575750-1575800	PrEC	prostate:	n/a
28	chr8:1588618-1588668	GM06990	blood:	n/a
29	chr8:1579180-1579230	BE2_C	brain:	n/a
30	chr8:1579108-1579158	NB4	blood:	n/a
31	chr8:1588822-1588872	HL-60	blood:	n/a
32	chr8:1589365-1589415	HCT-116	colon:	n/a
33	chr8:1581568-1581618	AG09309	skin:	n/a
34	chr8:1588618-1588668	HNPCEpiC	eye:	n/a
35	chr8:1589165-1589215	ECC-1	luminal epithelium:	n/a
36	chr8:1585146-1585196	BJ	skin:	n/a
37	chr8:1589165-1589215	Hela-S3	cervix:	n/a
38	chr8:1588899-1588949	AG04450	lung:	fetal
39	chr8:1581122-1581172	HNPCEpiC	eye:	n/a
40	chr8:1579108-1579158	SAEC	small airway:	n/a
41	chr8:1579180-1579230	SK-N-SH	brain:	n/a
42	chr8:1579240-1579290	ProgFib	skin:	n/a
43	chr8:1579108-1579158	BJ	skin:	n/a
44	chr8:1575750-1575800	GM19239	blood:	n/a
45	chr8:1581568-1581618	HCT-116	colon:	n/a
46	chr8:1581647-1581697	SAEC	small airway:	n/a
47	chr8:1581568-1581618	Caco-2	colon:	n/a
48	chr8:1581122-1581172	SK-N-SH_RA	brain:	n/a
49	chr8:1581568-1581618	IMR90	lung:	fetal
50	chr8:1585146-1585196	PANC-1	pancreas:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:1584132..1586956-chr8:1595846..1598280,3	K562	blood:
2	chr8:1582447..1584354-chr8:1585808..1588032,2	K562	blood:
3	chr8:1582447..1584354-chr8:1585808..1588032,2	K562	blood:
4	chr8:1578132..1580473-chr8:1601540..1604510,2	K562	blood:

No data

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

Extended variants
information (count: 1050 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:1050 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373138047	chr8:1574856-1574857	Genic enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs376444126	chr8:1574861-1574862	Genic enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs143122788	chr8:1574862-1574863	Genic enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs373116852	chr8:1574863-1574864	Genic enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs370942530	chr8:1574864-1574865	Genic enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs376109941	chr8:1574865-1574866	Genic enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs191979855	chr8:1574868-1574869	Genic enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs140146630	chr8:1574875-1574876	Genic enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs201613336	chr8:1574888-1574889	Genic enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs201344779	chr8:1574902-1574903	Genic enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs201567259	chr8:1574930-1574931	Genic enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs374464115	chr8:1574931-1574932	Genic enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs183392303	chr8:1574933-1574934	Genic enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs372268662	chr8:1574940-1574941	Genic enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs375286090	chr8:1574946-1574947	Genic enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs571027498	chr8:1574960-1574961	Genic enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs540100960	chr8:1574965-1574966	Genic enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs368188126	chr8:1574966-1574967	Genic enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs372456654	chr8:1574969-1574970	Genic enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs377198976	chr8:1574980-1574981	Genic enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs2272625	chr8:1574981-1574982	Genic enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs201068222	chr8:1574992-1574993	Genic enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs2472082	chr8:1575005-1575006	Genic enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs371441823	chr8:1575018-1575019	Genic enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs535219758	chr8:1575027-1575028	Genic enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs141198040	chr8:1575047-1575048	Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs575107102	chr8:1575058-1575059	Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs368996807	chr8:1575059-1575060	Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs372961257	chr8:1575062-1575063	Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs375928713	chr8:1575067-1575068	Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs369620454	chr8:1575068-1575069	Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs564428422	chr8:1575089-1575090	Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs80120802	chr8:1575091-1575092	Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs376995517	chr8:1575105-1575106	Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs553408868	chr8:1575110-1575111	Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs577924716	chr8:1575116-1575117	Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs138985315	chr8:1575120-1575121	Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs528493496	chr8:1575130-1575131	Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs78610085	chr8:1575181-1575182	Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs560331767	chr8:1575182-1575183	Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs35821406	chr8:1575196-1575197	Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs188043535	chr8:1575197-1575198	Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs193248222	chr8:1575198-1575199	Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs75404598	chr8:1575233-1575234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs562984147	chr8:1575236-1575237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs184454924	chr8:1575250-1575251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs149880024	chr8:1575251-1575252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs550807201	chr8:1575259-1575260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs555059506	chr8:1575272-1575273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs117088900	chr8:1575286-1575287	Weak transcription Enhancers	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:11 , 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
6	chr8:1579800-1580000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
7	chr8:1579800-1581200	Enhancers	Fetal Brain Male	brain
8	chr8:1580000-1580800	Enhancers	Fetal Brain Female	brain
9	chr8:1580600-1581000	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr8:1580800-1581200	Active TSS	Gastric	stomach
11	chr8:1581400-1581800	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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