Variant report

Variant	nsv604807
Chromosome Location	chr6:144190492-144199416
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:144184104..144185729-chr6:144192312..144194282,2	K562	blood:
2	chr6:144196775..144199655-chr6:144207316..144209888,2	K562	blood:

Variant related genes	Relation type
ENSG00000118491	chromatin interactions

Extended variants
information (count: 338 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:338 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35961442	chr6:144190492-144190493	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs530746682	chr6:144190580-144190581	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs544135886	chr6:144190584-144190585	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs146842465	chr6:144190585-144190586	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs184903511	chr6:144190586-144190587	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs565570609	chr6:144190622-144190623	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs533030080	chr6:144190704-144190705	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs368132738	chr6:144190730-144190731	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528040846	chr6:144190752-144190753	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551560151	chr6:144190769-144190770	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560077341	chr6:144190819-144190820	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs189762171	chr6:144190889-144190890	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs547093385	chr6:144190915-144190916	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs568501230	chr6:144190950-144190951	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs183211668	chr6:144190980-144190981	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs550671793	chr6:144190981-144190982	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs373522275	chr6:144190991-144190992	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs2092715	chr6:144191011-144191012	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs539704817	chr6:144191025-144191026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139780990	chr6:144191132-144191133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573101258	chr6:144191147-144191148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533672408	chr6:144191164-144191165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550829596	chr6:144191165-144191166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573370394	chr6:144191194-144191195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189254675	chr6:144191214-144191215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs6922235	chr6:144191237-144191238	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs577905916	chr6:144191278-144191279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544968896	chr6:144191279-144191280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560322855	chr6:144191300-144191301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527466971	chr6:144191301-144191302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549164296	chr6:144191316-144191317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562185146	chr6:144191340-144191341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192862305	chr6:144191351-144191352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550962909	chr6:144191356-144191357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569148636	chr6:144191389-144191390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540173056	chr6:144191421-144191422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551767232	chr6:144191489-144191490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146547334	chr6:144191494-144191495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534141600	chr6:144191616-144191617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567700215	chr6:144191655-144191656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141173605	chr6:144191705-144191706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143296884	chr6:144191745-144191746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530178031	chr6:144191798-144191799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550007657	chr6:144191873-144191874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556167406	chr6:144191892-144191893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183806413	chr6:144191898-144191899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7763597	chr6:144191940-144191941	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs2328509	chr6:144191946-144191947	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs188438170	chr6:144191966-144191967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542845569	chr6:144191984-144191985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
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
Gastric cancer	17908304	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
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Breast cancer	17142309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144178800-144203800	Weak transcription	Stomach Mucosa	stomach
2	chr6:144179800-144191200	Weak transcription	Psoas Muscle	Psoas
3	chr6:144183000-144193000	Weak transcription	Spleen	Spleen
4	chr6:144184600-144190600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr6:144185600-144193000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr6:144185800-144190600	Weak transcription	Fetal Kidney	kidney
7	chr6:144186000-144192400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr6:144186000-144192800	Weak transcription	HSMMtube	muscle
9	chr6:144186000-144223000	Weak transcription	Primary B cells from peripheral blood	blood
10	chr6:144186200-144193200	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr6:144186600-144193000	Weak transcription	Osteobl	bone
12	chr6:144186600-144193200	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr6:144186800-144190600	Weak transcription	Brain Germinal Matrix	brain
14	chr6:144186800-144193000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr6:144187000-144192000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:144187000-144193200	Weak transcription	NHEK	skin
17	chr6:144187000-144193800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr6:144187200-144191600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr6:144187600-144191800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr6:144187600-144192000	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr6:144187600-144192200	Weak transcription	Lung	lung
22	chr6:144187600-144193000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr6:144187600-144193000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:144187600-144193200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr6:144187600-144193400	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr6:144187600-144193400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr6:144187600-144199400	Weak transcription	Left Ventricle	heart
28	chr6:144187800-144192200	Weak transcription	Brain Hippocampus Middle	brain
29	chr6:144187800-144192200	Weak transcription	Fetal Lung	lung
30	chr6:144187800-144193400	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr6:144188400-144191000	ZNF genes & repeats	Fetal Muscle Leg	muscle
32	chr6:144188600-144191400	Weak transcription	Primary T cells from cord blood	blood
33	chr6:144188800-144192400	Weak transcription	Primary B cells from cord blood	blood
34	chr6:144189600-144190800	Weak transcription	Brain Angular Gyrus	brain
35	chr6:144190400-144190600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr6:144190400-144190600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
37	chr6:144190400-144190800	ZNF genes & repeats	Fetal Heart	heart
38	chr6:144190600-144190800	ZNF genes & repeats	Brain Germinal Matrix	brain
39	chr6:144190600-144190800	Enhancers	Placenta Amnion	Placenta Amnion
40	chr6:144190600-144193200	Weak transcription	Fetal Muscle Trunk	muscle
41	chr6:144191000-144192800	Weak transcription	Fetal Muscle Leg	muscle
42	chr6:144192800-144193000	Enhancers	HSMMtube	muscle
43	chr6:144192800-144194400	Enhancers	Fetal Muscle Leg	muscle
44	chr6:144193000-144193400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr6:144193000-144193400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr6:144193000-144193400	Active TSS	Muscle Satellite Cultured Cells	--
47	chr6:144193000-144193400	Enhancers	Spleen	Spleen
48	chr6:144193000-144193400	Active TSS	Osteobl	bone
49	chr6:144193200-144193400	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr6:144193200-144193400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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