Variant report

Variant	esv3379068
Chromosome Location	chr8:63053475-63058195
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:427)
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	POLR2A	chr8:63057034-63057061	MCF-7	breast:	n/a	n/a
2	POLR2A	chr8:63056062-63056181	A549	lung:	n/a	n/a
3	POLR2A	chr8:63057018-63057027	MCF-7	breast:	n/a	n/a
4	POLR2A	chr8:63057038-63057039	MCF-7	breast:	n/a	n/a
5	POLR2A	chr8:63055975-63056196	MCF-7	breast:	n/a	n/a
6	POLR2A	chr8:63056023-63056056	A549	lung:	n/a	n/a
7	POLR2A	chr8:63056339-63056593	MCF-7	breast:	n/a	n/a
8	POLR2A	chr8:63057072-63057141	MCF-7	breast:	n/a	n/a
9	POLR2A	chr8:63056081-63056090	MCF-7	breast:	n/a	n/a
10	POLR2A	chr8:63056107-63056177	MCF-7	breast:	n/a	n/a
11	POLR2A	chr8:63055281-63055517	H1-neurons	neurons:	n/a	n/a
12	POLR2A	chr8:63056987-63056991	A549	lung:	n/a	n/a
13	POLR2A	chr8:63055209-63055303	MCF10A-Er-Src	breast:	n/a	n/a

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:63057336-63057386	AG09309	skin:	n/a
2	chr8:63056671-63056721	K562	blood:	n/a
3	chr8:63056671-63056721	SK-N-SH_RA	brain:	n/a
4	chr8:63056032-63056082	PrEC	prostate:	n/a
5	chr8:63057206-63057256	AG09309	skin:	n/a
6	chr8:63055928-63055978	GM12878	blood:	n/a
7	chr8:63056186-63056236	SK-N-SH	brain:	n/a
8	chr8:63056186-63056236	PFSK-1	brain:	n/a
9	chr8:63056032-63056082	AG09319	gingival:	n/a
10	chr8:63056032-63056082	SK-N-SH_RA	brain:	n/a
11	chr8:63055928-63055978	HCM	heart:	n/a
12	chr8:63057206-63057256	CMK	blood:	n/a
13	chr8:63057336-63057386	Caco-2	colon:	n/a
14	chr8:63057206-63057256	MCF10A-Er-Src	breast:	n/a
15	chr8:63056032-63056082	GM12891	blood:	n/a
16	chr8:63055928-63055978	HEEpiC	esophagus:	n/a
17	chr8:63057336-63057386	HAEpiC	amniotic membrane:	n/a
18	chr8:63055444-63055494	AG09319	gingival:	n/a
19	chr8:63055928-63055978	SAEC	small airway:	n/a
20	chr8:63055928-63055978	GM12892	blood:	n/a
21	chr8:63055444-63055494	ProgFib	skin:	n/a
22	chr8:63056186-63056236	HIPEpiC	eye:	n/a
23	chr8:63057206-63057256	HMEC	breast:	n/a
24	chr8:63057206-63057256	HRE	kidney:	n/a
25	chr8:63057206-63057256	MCF-7	breast:	n/a
26	chr8:63056032-63056082	BE2_C	brain:	n/a
27	chr8:63056671-63056721	BE2_C	brain:	n/a
28	chr8:63057206-63057256	HEEpiC	esophagus:	n/a
29	chr8:63056186-63056236	BE2_C	brain:	n/a
30	chr8:63057336-63057386	SK-N-SH_RA	brain:	n/a
31	chr8:63056186-63056236	Hepatocyte	liver:	n/a
32	chr8:63056032-63056082	T-47D	breast:	n/a
33	chr8:63057336-63057386	ovcar-3	ovarian:	n/a
34	chr8:63056671-63056721	AG09309	skin:	n/a
35	chr8:63055928-63055978	U87	brain:	n/a
36	chr8:63055928-63055978	HEK293	kidney:	embryo
37	chr8:63055444-63055494	HPAEpiC	pulmonary alveolar:	n/a
38	chr8:63056032-63056082	Jurkat	blood:	n/a
39	chr8:63055444-63055494	HCM	heart:	n/a
40	chr8:63056032-63056082	AG09309	skin:	n/a
41	chr8:63056032-63056082	BJ	skin:	n/a
42	chr8:63057206-63057256	AG04449	skin:	fetal
43	chr8:63055444-63055494	SAEC	small airway:	n/a
44	chr8:63057206-63057256	IMR90	lung:	fetal
45	chr8:63057206-63057256	NHDF-neo	bronchial:	n/a
46	chr8:63056186-63056236	HUVEC	blood vessel:	n/a
47	chr8:63056032-63056082	GM12878	blood:	n/a
48	chr8:63057206-63057256	HPAEpiC	pulmonary alveolar:	n/a
49	chr8:63056671-63056721	ECC-1	luminal epithelium:	n/a
50	chr8:63056186-63056236	GM06990	blood:	n/a

No data

Variant related genes	Relation type
ENSG00000237810	TF binding region
ENSG00000237810	CpG island

Extended variants
information (count: 216 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:216 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542705267	chr8:63053509-63053510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560860254	chr8:63053541-63053542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548695112	chr8:63053579-63053580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201197522	chr8:63053600-63053601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4738938	chr8:63053725-63053726	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs534399147	chr8:63053793-63053794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192131750	chr8:63053803-63053804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532839491	chr8:63053862-63053863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547803028	chr8:63053895-63053896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566257552	chr8:63053909-63053910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs139998156	chr8:63053960-63053961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555152525	chr8:63053972-63053973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143585132	chr8:63053985-63053986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs180935398	chr8:63053986-63053987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1483182	chr8:63054024-63054025	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs576990555	chr8:63054034-63054035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs78587832	chr8:63054040-63054041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544884277	chr8:63054050-63054051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553828443	chr8:63054101-63054102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572196737	chr8:63054217-63054218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542419179	chr8:63054234-63054235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs146799027	chr8:63054333-63054334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs140874203	chr8:63054354-63054355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs543576487	chr8:63054358-63054359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571230692	chr8:63054361-63054362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs150174054	chr8:63054401-63054402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs548057763	chr8:63054428-63054429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs372501776	chr8:63054442-63054443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs566198703	chr8:63054444-63054445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs530423393	chr8:63054512-63054513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs548464226	chr8:63054562-63054563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs62506817	chr8:63054594-63054595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs569932712	chr8:63054600-63054601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs537134830	chr8:63054706-63054707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs552284170	chr8:63054710-63054711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs2351436	chr8:63054725-63054726	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs189770060	chr8:63054739-63054740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs553341504	chr8:63054741-63054742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs572201432	chr8:63054758-63054759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs10094813	chr8:63054795-63054796	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs554451272	chr8:63054821-63054822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145548294	chr8:63054844-63054845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs61214522	chr8:63054850-63054851	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs574718587	chr8:63054862-63054863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565010748	chr8:63054875-63054876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577019535	chr8:63054879-63054880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555451686	chr8:63054881-63054882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555924463	chr8:63054896-63054897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182809912	chr8:63054920-63054921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs6996611	chr8:63054923-63054924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
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
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	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
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	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
Salivary gland tumor	18059337	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
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	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
Colorectal cancer	16272173	CNVD
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	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
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD
Colorectal cancer	21645411	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63052000-63055800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:63052800-63054000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr8:63054000-63054800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr8:63054600-63060600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:63054800-63055200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:63055200-63055400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr8:63055400-63056000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr8:63055800-63057200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr8:63056000-63057000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr8:63057000-63057400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr8:63057200-63060000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr8:63057400-63058800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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