Variant report

Variant	nsv6184
Chromosome Location	chr8:50997525-51060432
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:51030711..51032424-chr8:51036929..51039858,2	MCF-7	breast:
2	chr8:51030711..51032424-chr8:51036929..51039858,2	MCF-7	breast:
3	chr8:51050537..51053146-chr8:51056966..51059260,2	K562	blood:
4	chr8:51050537..51053146-chr8:51056966..51059260,2	K562	blood:

Extended variants
information (count: 2200 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:2200 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200402480	chr8:50997554-50997555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs201361461	chr8:50997555-50997556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541610771	chr8:50997594-50997595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559943656	chr8:50997598-50997599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs527503359	chr8:50997602-50997603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545745260	chr8:50997629-50997630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564416066	chr8:50997656-50997657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs532354340	chr8:50997714-50997715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs372056352	chr8:50997721-50997722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569362748	chr8:50997764-50997765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530250018	chr8:50997778-50997779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546190757	chr8:50997830-50997831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs374399946	chr8:50997875-50997876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs188570086	chr8:50997903-50997904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148040520	chr8:50997928-50997929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs113212567	chr8:50997961-50997962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558940795	chr8:50998102-50998103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs571171416	chr8:50998109-50998110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537434506	chr8:50998110-50998111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs193246139	chr8:50998173-50998174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183878916	chr8:50998178-50998179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs574173032	chr8:50998180-50998181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs187753611	chr8:50998185-50998186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs553466396	chr8:50998247-50998248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs572105257	chr8:50998248-50998249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545979675	chr8:50998291-50998292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs564219770	chr8:50998360-50998361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs556890678	chr8:50998378-50998379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs191477553	chr8:50998404-50998405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567318469	chr8:50998411-50998412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs565989774	chr8:50998426-50998427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs143374186	chr8:50998443-50998444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs150559047	chr8:50998458-50998459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs139987967	chr8:50998484-50998485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs548664548	chr8:50998503-50998504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs560640848	chr8:50998521-50998522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs528954379	chr8:50998549-50998550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs527880761	chr8:50998562-50998563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs183911464	chr8:50998567-50998568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs113580983	chr8:50998579-50998580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs188588238	chr8:50998585-50998586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs58263106	chr8:50998598-50998599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs191938726	chr8:50998613-50998614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs112131632	chr8:50998617-50998618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs550084408	chr8:50998621-50998622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs185241009	chr8:50998640-50998641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs6996646	chr8:50998665-50998666	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs61619561	chr8:50998728-50998729	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs203616	chr8:50998808-50998809	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs143479554	chr8:50998817-50998818	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
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
Lung cancer	18438408	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
Ovarian cancer	22174824	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:172 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:50995800-50998200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:50997000-50997600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:50997200-50999800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr8:51003200-51003400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr8:51003400-51017400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr8:51017400-51018400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr8:51018400-51039600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr8:51027800-51028600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:51028200-51028600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:51028600-51030600	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr8:51029400-51030200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:51030200-51031000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:51031000-51031200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:51031000-51031600	Enhancers	Osteobl	bone
15	chr8:51031400-51034800	Weak transcription	Brain Germinal Matrix	brain
16	chr8:51031600-51038800	Weak transcription	Osteobl	bone
17	chr8:51032200-51046600	Weak transcription	Fetal Brain Male	brain
18	chr8:51034600-51035200	Enhancers	H1 Cell Line	embryonic stem cell
19	chr8:51034600-51035200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr8:51034600-51038200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr8:51034800-51035200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr8:51034800-51037800	Enhancers	Brain Germinal Matrix	brain
23	chr8:51035000-51035600	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr8:51037400-51039000	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr8:51037800-51046800	Weak transcription	Brain Germinal Matrix	brain
26	chr8:51038000-51047600	Weak transcription	Right Atrium	heart
27	chr8:51038200-51038600	Enhancers	Spleen	Spleen
28	chr8:51038200-51038800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr8:51038200-51038800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr8:51038200-51040400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr8:51038400-51038600	Enhancers	Fetal Intestine Large	intestine
32	chr8:51038400-51039000	Enhancers	NH-A	brain
33	chr8:51038600-51039400	Weak transcription	Fetal Intestine Large	intestine
34	chr8:51038800-51040000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr8:51038800-51040400	Enhancers	Osteobl	bone
36	chr8:51039000-51039400	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr8:51039000-51039800	Weak transcription	NH-A	brain
38	chr8:51039200-51040000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr8:51039400-51039800	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr8:51039400-51040200	Enhancers	Fetal Intestine Large	intestine
41	chr8:51039400-51040600	Enhancers	Hela-S3	cervix
42	chr8:51039400-51040800	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr8:51039600-51040200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr8:51039600-51040600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr8:51039600-51040600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr8:51039600-51040600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr8:51039800-51040600	Enhancers	Adipose Nuclei	Adipose
48	chr8:51039800-51040600	Enhancers	NH-A	brain
49	chr8:51039800-51040800	Enhancers	Rectal Smooth Muscle	rectum
50	chr8:51040000-51040200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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