Variant report

Variant	nsv970695
Chromosome Location	chr6:102252711-102258322
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 147 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:147 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552987256	chr6:102252766-102252767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs572844208	chr6:102252787-102252788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs4840195	chr6:102252797-102252798	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs189250001	chr6:102252813-102252814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4840196	chr6:102252827-102252828	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs145415172	chr6:102252834-102252835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576663918	chr6:102252837-102252838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182288712	chr6:102252839-102252840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561595941	chr6:102252842-102252843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563011472	chr6:102252859-102252860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs4840197	chr6:102252878-102252879	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs559291087	chr6:102252908-102252909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532774268	chr6:102252910-102252911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551211735	chr6:102252924-102252925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs77799761	chr6:102252940-102252941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530582528	chr6:102252950-102252951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549143621	chr6:102252996-102252997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567378681	chr6:102253002-102253003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144862689	chr6:102253062-102253063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs79410467	chr6:102253102-102253103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372732072	chr6:102253112-102253113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs73512742	chr6:102253114-102253115	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs539846181	chr6:102253159-102253160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544067337	chr6:102253160-102253161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548339383	chr6:102253189-102253190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs397888195	chr6:102253202-102253203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368941742	chr6:102253215-102253216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576824642	chr6:102253230-102253231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186533451	chr6:102253235-102253236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34986779	chr6:102253255-102253256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190635614	chr6:102253269-102253270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141127626	chr6:102253270-102253271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541080374	chr6:102253304-102253305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150748427	chr6:102253312-102253313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571183604	chr6:102253367-102253368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532735071	chr6:102253387-102253388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182874539	chr6:102253400-102253401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs529327751	chr6:102253405-102253406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs542748121	chr6:102253408-102253409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs562976489	chr6:102253421-102253422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs559441230	chr6:102253458-102253459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs367771194	chr6:102253504-102253505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs114563432	chr6:102253518-102253519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs534484432	chr6:102253545-102253546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs139075394	chr6:102253547-102253548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs9498714	chr6:102253566-102253567	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs528287028	chr6:102253575-102253576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs547823555	chr6:102253576-102253577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs73512743	chr6:102253580-102253581	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs539809983	chr6:102253592-102253593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	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
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
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17170743	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21785460	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Myelofibrosis	22110671	CNVD
Obesity	21045960	CNVD
Liver carcinoma	19366792	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Urothelial carcinoma	21177765	CNVD
Autism	22543975	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:102249000-102253600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr6:102251400-102253600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr6:102251800-102253400	Weak transcription	NH-A	brain
4	chr6:102251800-102253600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr6:102253400-102253600	Enhancers	NH-A	brain
6	chr6:102253600-102254200	Flanking Active TSS	NH-A	brain
7	chr6:102253600-102254400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr6:102253600-102254400	Enhancers	Osteobl	bone
9	chr6:102253600-102256000	Enhancers	HMEC	breast
10	chr6:102253600-102256200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr6:102253600-102256200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr6:102253800-102254400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:102253800-102254400	Enhancers	HSMM	muscle
14	chr6:102253800-102255000	Enhancers	Muscle Satellite Cultured Cells	--
15	chr6:102253800-102255200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr6:102253800-102255600	Enhancers	HUVEC	blood vessel
17	chr6:102254200-102255800	Enhancers	NH-A	brain
18	chr6:102254400-102254800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr6:102254400-102254800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr6:102254400-102254800	Weak transcription	HSMM	muscle
21	chr6:102254400-102254800	Weak transcription	Osteobl	bone
22	chr6:102254800-102255200	Enhancers	HSMM	muscle
23	chr6:102254800-102255200	Enhancers	Osteobl	bone
24	chr6:102254800-102255600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr6:102254800-102255800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr6:102255200-102256200	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr6:102255200-102256200	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr6:102255400-102255800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr6:102255600-102256200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr6:102255800-102256400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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