Variant report

Variant	esv3420358
Chromosome Location	chr8:104642825-104665892
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	chr8:104663504..104665710-chr8:104666809..104669182,2	MCF-7	breast:

Extended variants
information (count: 890 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:890 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199511214	chr8:104642825-104642826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs4734724	chr8:104642826-104642827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs61194218	chr8:104642827-104642828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190426658	chr8:104642845-104642846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533718650	chr8:104642853-104642854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551769289	chr8:104642857-104642858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149111776	chr8:104642900-104642901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531032832	chr8:104642911-104642912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377432271	chr8:104642913-104642914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143161364	chr8:104642929-104642930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs35196143	chr8:104642944-104642945	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs12676663	chr8:104642949-104642950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181612687	chr8:104642976-104642977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571544007	chr8:104643045-104643046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539755525	chr8:104643077-104643078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186862959	chr8:104643085-104643086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576261254	chr8:104643103-104643104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148275899	chr8:104643131-104643132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555104417	chr8:104643153-104643154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573406913	chr8:104643158-104643159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190111976	chr8:104643159-104643160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140216685	chr8:104643244-104643245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559333319	chr8:104643326-104643327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369500942	chr8:104643450-104643451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577541830	chr8:104643451-104643452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111406343	chr8:104643494-104643495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372937317	chr8:104643530-104643531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34968408	chr8:104643547-104643548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376428428	chr8:104643566-104643567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563842459	chr8:104643591-104643592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531195958	chr8:104643592-104643593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145270049	chr8:104643608-104643609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs61300996	chr8:104643609-104643610	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs181210585	chr8:104643711-104643712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs71512488	chr8:104643740-104643741	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs7817840	chr8:104643742-104643743	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs567652853	chr8:104643754-104643755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370621340	chr8:104643777-104643778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538679001	chr8:104643857-104643858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550919974	chr8:104643878-104643879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554499529	chr8:104643901-104643902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574357302	chr8:104643953-104643954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537311053	chr8:104643974-104643975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376549339	chr8:104644002-104644003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536900750	chr8:104644015-104644016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185815699	chr8:104644046-104644047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573483867	chr8:104644097-104644098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375404955	chr8:104644101-104644102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs80133540	chr8:104644115-104644116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376109489	chr8:104644169-104644170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:114)

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
Malignant melanoma	17260012	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
Oral squamous cell carcinoma	21853135	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104639600-104653200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:104640200-104653800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:104641400-104645000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr8:104641400-104656000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr8:104646200-104656000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr8:104646800-104655600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr8:104647200-104647400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
8	chr8:104647200-104648200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
9	chr8:104647400-104649000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:104647400-104651200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr8:104651200-104651600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
12	chr8:104651600-104656200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr8:104653200-104654200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:104653800-104654200	Enhancers	H9 Cell Line	embryonic stem cell
15	chr8:104653800-104654200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
16	chr8:104654200-104656200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr8:104654200-104658000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:104654200-104706400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:104654800-104659800	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr8:104655600-104659400	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr8:104655600-104659600	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr8:104655800-104659400	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr8:104656000-104656800	Enhancers	H1 Cell Line	embryonic stem cell
24	chr8:104656000-104657000	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr8:104656000-104658200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr8:104656000-104659800	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr8:104656200-104656400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:104656200-104656600	Enhancers	H9 Cell Line	embryonic stem cell
29	chr8:104656200-104657000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr8:104656400-104656600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr8:104656400-104657000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr8:104656600-104658600	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr8:104656800-104657600	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr8:104657000-104657200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr8:104657000-104657400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr8:104657000-104657400	Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr8:104657200-104658600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr8:104657400-104659400	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr8:104657400-104659800	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr8:104657600-104659000	Enhancers	H1 Cell Line	embryonic stem cell
41	chr8:104658000-104658800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr8:104658200-104658800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr8:104658400-104659000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr8:104658400-104659800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr8:104658600-104659200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr8:104658600-104659600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr8:104658600-104659600	Enhancers	H9 Cell Line	embryonic stem cell
48	chr8:104658800-104659000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr8:104659000-104662800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr8:104659200-104659600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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