Variant report

Variant	nsv527772
Chromosome Location	chr6:140332096-140337443
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 181 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:181 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1572671	chr6:140332096-140332097	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs561623375	chr6:140332175-140332176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528813907	chr6:140332179-140332180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs138000493	chr6:140332197-140332198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs12662819	chr6:140332201-140332202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs111937558	chr6:140332239-140332240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547846797	chr6:140332441-140332442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569434380	chr6:140332517-140332518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs536630383	chr6:140332530-140332531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574271135	chr6:140332564-140332565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543170422	chr6:140332719-140332720	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs558388171	chr6:140332726-140332727	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs550383291	chr6:140332771-140332772	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs577055871	chr6:140332820-140332821	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs534966301	chr6:140332842-140332843	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs192816639	chr6:140332844-140332845	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs574532513	chr6:140332896-140332897	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs183459032	chr6:140332906-140332907	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs374575237	chr6:140332925-140332926	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs139627059	chr6:140333082-140333083	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs575836109	chr6:140333095-140333096	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs17755892	chr6:140333159-140333160	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs371886426	chr6:140333166-140333167	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs552835351	chr6:140333171-140333172	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs564544110	chr6:140333284-140333285	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs187642110	chr6:140333296-140333297	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs557436671	chr6:140333379-140333380	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs571116355	chr6:140333432-140333433	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs554788115	chr6:140333470-140333471	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs192155828	chr6:140333477-140333478	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs547121250	chr6:140333517-140333518	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs540882157	chr6:140333535-140333536	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs185032137	chr6:140333544-140333545	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs189410724	chr6:140333593-140333594	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs145384299	chr6:140333690-140333691	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs572558266	chr6:140333694-140333695	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs35677923	chr6:140333700-140333701	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs550793855	chr6:140333717-140333718	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs192387968	chr6:140333765-140333766	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs568958839	chr6:140333792-140333793	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs530562092	chr6:140333857-140333858	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs551753950	chr6:140333859-140333860	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs78029180	chr6:140333862-140333863	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs572892295	chr6:140333872-140333873	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs184347869	chr6:140333877-140333878	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs544491975	chr6:140333910-140333911	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs79982573	chr6:140333923-140333924	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs7451340	chr6:140333924-140333925	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs536174723	chr6:140333930-140333931	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs555913852	chr6:140333937-140333938	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Autism	22495311	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Gastric cancer	17908304	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute monocytic leukemia	16498392	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
craniofacial dysmorphism	21918468	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:140324800-140334000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:140324800-140338600	Weak transcription	Pancreas	Pancrea
3	chr6:140328000-140332600	Weak transcription	Ovary	ovary
4	chr6:140331400-140334200	Enhancers	Fetal Intestine Small	intestine
5	chr6:140331400-140334400	Enhancers	Fetal Intestine Large	intestine
6	chr6:140331600-140333400	Enhancers	Liver	Liver
7	chr6:140331600-140333800	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr6:140331800-140334600	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr6:140332000-140332600	Enhancers	Duodenum Mucosa	Duodenum
10	chr6:140332000-140333400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr6:140332400-140333600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:140332600-140332800	Flanking Active TSS	Duodenum Mucosa	Duodenum
13	chr6:140332600-140332800	Enhancers	NHDF-Ad	bronchial
14	chr6:140332600-140333000	Enhancers	Adipose Nuclei	Adipose
15	chr6:140332600-140333000	Enhancers	Fetal Kidney	kidney
16	chr6:140332600-140333000	Enhancers	Fetal Lung	lung
17	chr6:140332600-140333000	Enhancers	Ovary	ovary
18	chr6:140332600-140333000	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr6:140332600-140333000	Enhancers	Stomach Mucosa	stomach
20	chr6:140332600-140333000	Enhancers	HepG2	liver
21	chr6:140332600-140333000	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr6:140332600-140334200	Enhancers	Fetal Heart	heart
23	chr6:140332800-140333600	Active TSS	Duodenum Mucosa	Duodenum
24	chr6:140332800-140333800	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr6:140333000-140334000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr6:140333400-140333600	Enhancers	NHDF-Ad	bronchial
27	chr6:140333400-140333800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr6:140333400-140333800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr6:140333400-140338400	Weak transcription	Liver	Liver
30	chr6:140333600-140335400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr6:140333800-140334000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr6:140334000-140334600	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr6:140334000-140335600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr6:140334200-140335400	Weak transcription	Fetal Intestine Small	intestine
35	chr6:140334400-140334800	Weak transcription	Fetal Intestine Large	intestine
36	chr6:140334600-140335600	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr6:140334800-140335800	Enhancers	Fetal Intestine Large	intestine
38	chr6:140335200-140336600	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr6:140335400-140335800	Enhancers	Duodenum Mucosa	Duodenum
40	chr6:140335400-140336000	Enhancers	Fetal Intestine Small	intestine
41	chr6:140335600-140336000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr6:140335600-140336600	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr6:140335800-140337600	Weak transcription	Fetal Intestine Large	intestine
44	chr6:140335800-140339200	Weak transcription	Duodenum Mucosa	Duodenum
45	chr6:140336000-140337400	Weak transcription	Fetal Intestine Small	intestine
46	chr6:140336600-140337600	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr6:140336600-140340400	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr6:140337400-140340200	Enhancers	Fetal Intestine Small	intestine

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