Variant report

Variant	esv3440633
Chromosome Location	chr8:105297684-105304611
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:105292474..105294949-chr8:105304192..105307162,2	MCF-7	breast:

Extended variants
information (count: 344 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:344 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112934084	chr8:105297709-105297710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs141431813	chr8:105297746-105297747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs56214782	chr8:105297771-105297772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560472123	chr8:105297820-105297821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560111240	chr8:105297870-105297871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546989795	chr8:105297890-105297891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185625646	chr8:105297903-105297904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539128472	chr8:105297911-105297912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529330806	chr8:105297920-105297921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10102063	chr8:105297990-105297991	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs569000641	chr8:105297992-105297993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373249435	chr8:105298028-105298029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs377640117	chr8:105298060-105298061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536484101	chr8:105298062-105298063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10102178	chr8:105298070-105298071	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs573214971	chr8:105298074-105298075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534185634	chr8:105298081-105298082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182678681	chr8:105298087-105298088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150133505	chr8:105298117-105298118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372827000	chr8:105298138-105298139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142068122	chr8:105298139-105298140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs56684345	chr8:105298142-105298143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544183286	chr8:105298190-105298191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562604250	chr8:105298191-105298192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574560750	chr8:105298212-105298213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187953306	chr8:105298220-105298221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191847436	chr8:105298247-105298248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527595870	chr8:105298279-105298280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200149171	chr8:105298281-105298282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553769516	chr8:105298324-105298325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs138655273	chr8:105298365-105298366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564403912	chr8:105298374-105298375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111393461	chr8:105298376-105298377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575102664	chr8:105298387-105298388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569039197	chr8:105298418-105298419	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs570686526	chr8:105298477-105298478	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs536311783	chr8:105298485-105298486	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs533054658	chr8:105298486-105298487	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs548382544	chr8:105298488-105298489	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs13254398	chr8:105298499-105298500	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs201332977	chr8:105298522-105298523	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs534400212	chr8:105298563-105298564	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs566452029	chr8:105298571-105298572	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs137959879	chr8:105298577-105298578	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs184092240	chr8:105298585-105298586	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs370248490	chr8:105298586-105298587	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs537469484	chr8:105298610-105298611	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs187369826	chr8:105298621-105298622	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs565055193	chr8:105298641-105298642	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs574603925	chr8:105298649-105298650	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:112)

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
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
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	CNVD
Urothelial cell carcinoma	18451213	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	20409316	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Oral squamous cell carcinoma	21853135	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105296800-105298400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:105297000-105298800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr8:105297400-105305800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr8:105298400-105299400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
5	chr8:105298800-105299200	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr8:105299400-105305600	Weak transcription	H9 Cell Line	embryonic stem cell

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