Variant report

Variant	nsv968545
Chromosome Location	chr8:49990010-49993737
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:49990025..49992623-chr8:49996686..49998822,3	K562	blood:
2	chr8:49991750..49994604-chr8:49995400..49997837,2	K562	blood:
3	chr8:49986949..49989384-chr8:49993295..49995590,2	K562	blood:
4	chr8:49977011..49978877-chr8:49988078..49990673,2	K562	blood:
5	chr8:49990906..49993749-chr8:49994694..49997206,2	MCF-7	breast:
6	chr8:49984428..49986126-chr8:49991060..49993581,2	K562	blood:

Variant related genes	Relation type
ENSG00000168333	chromatin interactions

Extended variants
information (count: 143 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:143 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191680382	chr8:49990063-49990064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs4873311	chr8:49990075-49990076	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs78652735	chr8:49990090-49990091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571696110	chr8:49990129-49990130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs142855924	chr8:49990150-49990151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4873095	chr8:49990166-49990167	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs552387261	chr8:49990213-49990214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570560620	chr8:49990236-49990237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540468501	chr8:49990285-49990286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150647879	chr8:49990387-49990388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183892074	chr8:49990394-49990395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs16939396	chr8:49990405-49990406	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs188219822	chr8:49990460-49990461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs10577045	chr8:49990472-49990473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs398067790	chr8:49990475-49990476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553467488	chr8:49990481-49990482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572151941	chr8:49990485-49990486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182085351	chr8:49990503-49990504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545435407	chr8:49990530-49990531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs564162646	chr8:49990537-49990538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs576584732	chr8:49990542-49990543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs11442530	chr8:49990544-49990545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs5891292	chr8:49990545-49990546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs397947606	chr8:49990546-49990547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs341803	chr8:49990578-49990579	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs552328519	chr8:49990608-49990609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs185702318	chr8:49990659-49990660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs190225919	chr8:49990744-49990745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs16939398	chr8:49990749-49990750	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs559480713	chr8:49990769-49990770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs563595755	chr8:49990777-49990778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs370570084	chr8:49990783-49990784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs570830317	chr8:49990785-49990786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533315343	chr8:49990825-49990826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551583760	chr8:49990837-49990838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142989172	chr8:49990854-49990855	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182053348	chr8:49990891-49990892	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574010431	chr8:49990971-49990972	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531552188	chr8:49990993-49990994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112607909	chr8:49991006-49991007	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568392764	chr8:49991033-49991034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139863853	chr8:49991034-49991035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553994385	chr8:49991056-49991057	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375027492	chr8:49991061-49991062	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs78244324	chr8:49991074-49991075	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs539392280	chr8:49991081-49991082	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs557584341	chr8:49991096-49991097	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs76895399	chr8:49991118-49991119	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs367693711	chr8:49991133-49991134	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs555541252	chr8:49991134-49991135	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Lung cancer	18438408	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	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
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	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
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
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22014070	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49984600-49991400	Weak transcription	K562	blood
2	chr8:49987200-49998800	Weak transcription	Psoas Muscle	Psoas
3	chr8:49989000-49990800	Weak transcription	Gastric	stomach
4	chr8:49989000-49990800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr8:49990400-49992000	Enhancers	Stomach Mucosa	stomach
6	chr8:49990800-49991000	Enhancers	Gastric	stomach
7	chr8:49990800-49991600	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr8:49991000-49991400	Weak transcription	Gastric	stomach
9	chr8:49991000-49991800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr8:49991400-49991600	Enhancers	K562	blood
11	chr8:49991400-49991800	Enhancers	Gastric	stomach
12	chr8:49991400-49992000	Enhancers	Fetal Intestine Large	intestine
13	chr8:49991600-49994200	Weak transcription	K562	blood
14	chr8:49991600-49994600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr8:49992000-49994800	Weak transcription	Stomach Mucosa	stomach

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