Variant report

Variant	nsv981342
Chromosome Location	chr6:127013669-127036447
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 483 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:483 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576675638	chr6:127013717-127013718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs149256398	chr6:127013752-127013753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568202115	chr6:127013822-127013823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556587952	chr6:127013824-127013825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78078614	chr6:127013899-127013900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529539618	chr6:127013903-127013904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs180832634	chr6:127013905-127013906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147354053	chr6:127013923-127013924	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536854614	chr6:127013948-127013949	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552299493	chr6:127014024-127014025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs114622045	chr6:127014044-127014045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374853373	chr6:127014058-127014059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551887174	chr6:127014066-127014067	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570385477	chr6:127014078-127014079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140136982	chr6:127014098-127014099	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550019474	chr6:127014280-127014281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs77421596	chr6:127014318-127014319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535298802	chr6:127014371-127014372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553550377	chr6:127014377-127014378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369240764	chr6:127014485-127014486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375531364	chr6:127014524-127014525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373834922	chr6:127014530-127014531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565842049	chr6:127014539-127014540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs114112230	chr6:127014605-127014606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144117897	chr6:127014638-127014639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576357468	chr6:127014734-127014735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs147289433	chr6:127014784-127014785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9375452	chr6:127014862-127014863	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs574378829	chr6:127014863-127014864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541690822	chr6:127014891-127014892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559938394	chr6:127014921-127014922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527390976	chr6:127014982-127014983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545848958	chr6:127014983-127014984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563944363	chr6:127015007-127015008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs9388511	chr6:127015015-127015016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs864937	chr6:127015083-127015084	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs568063225	chr6:127015087-127015088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572451635	chr6:127015090-127015091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184417055	chr6:127015127-127015128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547202225	chr6:127015170-127015171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549638443	chr6:127015202-127015203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539572824	chr6:127015307-127015308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555093692	chr6:127015369-127015370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558259863	chr6:127015479-127015480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545431304	chr6:127015610-127015611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576565764	chr6:127015655-127015656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs6905914	chr6:127015657-127015658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544033950	chr6:127015695-127015696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570037320	chr6:127015725-127015726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189742270	chr6:127015754-127015755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
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
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	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
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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	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
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21785460	CNVD
Neurocytoma	17123091	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Ependymoma	18628472	CNVD
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21958427	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:127013400-127018400	Weak transcription	Colon Smooth Muscle	Colon
2	chr6:127013800-127014400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:127013800-127014400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:127014000-127014400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:127014400-127018000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:127014400-127018200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:127014400-127018200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:127015800-127016000	Enhancers	Psoas Muscle	Psoas
9	chr6:127016000-127017200	Weak transcription	Psoas Muscle	Psoas
10	chr6:127017200-127017600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:127017200-127018400	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr6:127017200-127018600	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr6:127017200-127018800	Enhancers	Psoas Muscle	Psoas
14	chr6:127017600-127017800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr6:127017800-127018800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr6:127018000-127018400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr6:127018000-127018600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr6:127018000-127018600	Enhancers	Fetal Stomach	stomach
19	chr6:127018000-127018800	Enhancers	Fetal Muscle Leg	muscle
20	chr6:127018000-127019000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr6:127018200-127018600	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr6:127018200-127018600	Enhancers	Liver	Liver
23	chr6:127018200-127018600	Enhancers	Placenta Amnion	Placenta Amnion
24	chr6:127018200-127018800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:127018200-127018800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr6:127018200-127018800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr6:127018200-127018800	Enhancers	Fetal Lung	lung
28	chr6:127018200-127018800	Enhancers	NHDF-Ad	bronchial
29	chr6:127018400-127018600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr6:127018400-127018800	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr6:127018400-127018800	Enhancers	Colon Smooth Muscle	Colon
32	chr6:127018400-127018800	Enhancers	Placenta	Placenta
33	chr6:127018600-127022200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr6:127018600-127022800	Weak transcription	Liver	Liver
35	chr6:127018800-127019600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr6:127018800-127022800	Weak transcription	NHDF-Ad	bronchial
37	chr6:127019600-127019800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr6:127019800-127022200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr6:127022200-127022400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr6:127022200-127022400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr6:127022800-127023000	Flanking Active TSS	Dnd41	blood
42	chr6:127022800-127023200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr6:127022800-127023200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr6:127022800-127023200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr6:127022800-127023200	Enhancers	Liver	Liver
46	chr6:127022800-127023200	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr6:127022800-127023200	Active TSS	NHLF	lung
48	chr6:127022800-127023200	Active TSS	Osteobl	bone
49	chr6:127022800-127023400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr6:127022800-127023400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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