Variant report

Variant	nsv437625
Chromosome Location	chr8:68541850-68554213
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:68518664..68520365-chr8:68551960..68554902,2	MCF-7	breast:
2	chr8:68544829..68547462-chr8:68549274..68551822,2	K562	blood:
3	chr8:68548341..68551213-chr8:68551272..68553707,2	K562	blood:
4	chr8:68547352..68551056-chr8:68551265..68553707,4	K562	blood:
5	chr8:68548341..68551213-chr8:68551272..68553707,2	K562	blood:
6	chr8:68544829..68547462-chr8:68549274..68551822,2	K562	blood:
7	chr8:68546219..68548074-chr8:68552371..68554076,2	MCF-7	breast:
8	chr8:68547352..68551056-chr8:68551265..68553707,4	K562	blood:
9	chr8:68546219..68548074-chr8:68552371..68554076,2	MCF-7	breast:

No data

Extended variants
information (count: 257 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:257 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6998443	chr8:68541850-68541851	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs539910780	chr8:68541858-68541859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559792548	chr8:68541897-68541898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs151257727	chr8:68541936-68541937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140442099	chr8:68541984-68541985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373008772	chr8:68542067-68542068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73251050	chr8:68542090-68542091	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs138763514	chr8:68542107-68542108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs141812876	chr8:68542137-68542138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181598588	chr8:68542199-68542200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186699758	chr8:68542200-68542201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546194340	chr8:68542243-68542244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536690541	chr8:68542245-68542246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556235805	chr8:68542271-68542272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564486031	chr8:68542298-68542299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528513557	chr8:68542314-68542315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs61666997	chr8:68542345-68542346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372666068	chr8:68542346-68542347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs397971732	chr8:68542375-68542376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538926685	chr8:68542376-68542377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs6472324	chr8:68542429-68542430	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs562089566	chr8:68542491-68542492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572330957	chr8:68542508-68542509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541213906	chr8:68542520-68542521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191234854	chr8:68542532-68542533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs114914921	chr8:68542548-68542549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183152464	chr8:68542567-68542568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs367656163	chr8:68542577-68542578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs138763062	chr8:68542677-68542678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187597467	chr8:68542691-68542692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531651293	chr8:68542739-68542740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569171937	chr8:68542816-68542817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs386726366	chr8:68542825-68542826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs115529183	chr8:68542826-68542827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111951831	chr8:68542836-68542837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527522337	chr8:68542855-68542856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189553033	chr8:68542862-68542863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10100275	chr8:68542866-68542867	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs183421781	chr8:68542882-68542883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550162497	chr8:68542923-68542924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570411871	chr8:68542924-68542925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372771050	chr8:68542938-68542939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs79674136	chr8:68542993-68542994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559019427	chr8:68543019-68543020	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs572398341	chr8:68543033-68543034	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs73251055	chr8:68543035-68543036	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs554697294	chr8:68543043-68543044	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs573413014	chr8:68543044-68543045	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs542325048	chr8:68543075-68543076	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs531338004	chr8:68543090-68543091	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
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
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
Cancer	16751803	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
Chronic lymphocytic leukemia	21546498	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
Sezary syndrome	18413736	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
head and neck squamous cell carcinoma	16715129	CNVD
Prostate cancer	16461572	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:68541400-68543000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:68543000-68543400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:68544000-68544400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr8:68548200-68548800	Enhancers	Colon Smooth Muscle	Colon
5	chr8:68548200-68548800	Enhancers	Rectal Smooth Muscle	rectum
6	chr8:68548600-68549000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr8:68549000-68549200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr8:68550800-68552000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr8:68550800-68552000	Enhancers	Adipose Nuclei	Adipose
10	chr8:68551400-68553400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:68551600-68551800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:68551600-68551800	Enhancers	Esophagus	oesophagus
13	chr8:68551600-68552800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:68551800-68552800	Weak transcription	Esophagus	oesophagus
15	chr8:68551800-68553200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:68552000-68552200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
17	chr8:68552000-68552400	Weak transcription	Adipose Nuclei	Adipose
18	chr8:68552200-68553400	Enhancers	Pancreas	Pancrea
19	chr8:68552400-68553200	Enhancers	Adipose Nuclei	Adipose
20	chr8:68552800-68553400	Enhancers	Esophagus	oesophagus
21	chr8:68553000-68553400	Enhancers	Gastric	stomach
22	chr8:68553200-68553400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr8:68553400-68553800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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