Variant report

Variant	nsv604640
Chromosome Location	chr6:127227094-127298394
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:127253610..127256481-chr6:127266019..127267595,2	K562	blood:
2	chr6:127253610..127256481-chr6:127266019..127267595,2	K562	blood:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ECHDC1-1	chr6:127231988-127232163	NONHSAT114839
2	lnc-ECHDC1-1	chr6:127240705-127240791	NONHSAT114839
3	lnc-ECHDC1-4	chr6:127282398-127282484	ucscGeneNc_uc003qaq_1
4	lnc-ECHDC1-1	chr6:127264531-127264753	ENSG00000248650
5	lnc-ECHDC1-1	chr6:127240984-127241220	NONHSAT114839
6	lnc-ECHDC1-4	chr6:127251054-127251176	ucscGeneNc_uc003qaq_1
7	lnc-ECHDC1-1	chr6:127240705-127240791	ENSG00000248650

No data

Variant related genes	Relation type
SOX9	miRNA target sites
MKI67	miRNA target sites

Extended variants
information (count: 1848 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:1848 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183444170	chr6:127227097-127227098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs557804860	chr6:127227114-127227115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs569562689	chr6:127227159-127227160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs528039691	chr6:127227164-127227165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs369075625	chr6:127227167-127227168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs114374875	chr6:127227179-127227180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555269882	chr6:127227226-127227227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs528321752	chr6:127227269-127227270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs143213631	chr6:127227289-127227290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186651430	chr6:127227301-127227302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs192010042	chr6:127227372-127227373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183691382	chr6:127227382-127227383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577371990	chr6:127227390-127227391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs2068408	chr6:127227414-127227415	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs563769517	chr6:127227420-127227421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs144709983	chr6:127227425-127227426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562423295	chr6:127227430-127227431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs79245600	chr6:127227465-127227466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs146442952	chr6:127227496-127227497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs561616185	chr6:127227529-127227530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190426762	chr6:127227582-127227583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528788033	chr6:127227591-127227592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547277231	chr6:127227667-127227668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571069850	chr6:127227680-127227681	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565499405	chr6:127227729-127227730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189142906	chr6:127227765-127227766	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34169413	chr6:127227773-127227774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369772263	chr6:127227872-127227873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191238481	chr6:127227910-127227911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569708380	chr6:127228018-127228019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs182330261	chr6:127228052-127228053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs548558588	chr6:127228066-127228067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs566881856	chr6:127228081-127228082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs534606945	chr6:127228107-127228108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs552536371	chr6:127228114-127228115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564470024	chr6:127228117-127228118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs58031476	chr6:127228124-127228125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557204615	chr6:127228130-127228131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs186944614	chr6:127228132-127228133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528589706	chr6:127228161-127228162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575691268	chr6:127228204-127228205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550968068	chr6:127228253-127228254	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191777213	chr6:127228286-127228287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148117217	chr6:127228301-127228302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561279221	chr6:127228312-127228313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546743344	chr6:127228329-127228330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185001049	chr6:127228331-127228332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376216152	chr6:127228389-127228390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189929414	chr6:127228494-127228495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs377493721	chr6:127228513-127228514	Enhancers	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
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
Mental retardation	17847001	CNVD
Cancer	17440070	CNVD

Chromatin state (count:177 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:127226200-127227400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:127226400-127227800	Enhancers	Muscle Satellite Cultured Cells	--
3	chr6:127226600-127227400	Enhancers	HSMMtube	muscle
4	chr6:127226600-127227600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:127226600-127227600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:127226600-127227600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:127226600-127227800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr6:127227000-127227400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:127227200-127227400	Enhancers	Pancreas	Pancrea
10	chr6:127227600-127228400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:127227800-127228200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr6:127228000-127231400	Enhancers	Fetal Lung	lung
13	chr6:127228200-127229400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr6:127228400-127228600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:127228600-127229400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:127229400-127229600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:127229400-127229600	Enhancers	Colon Smooth Muscle	Colon
18	chr6:127229400-127234800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr6:127229600-127234600	Weak transcription	Colon Smooth Muscle	Colon
20	chr6:127231400-127234600	Weak transcription	Fetal Lung	lung
21	chr6:127234200-127235000	Enhancers	Placenta Amnion	Placenta Amnion
22	chr6:127234600-127234800	Enhancers	Fetal Lung	lung
23	chr6:127234600-127235600	Enhancers	Colon Smooth Muscle	Colon
24	chr6:127234800-127235200	Weak transcription	Fetal Lung	lung
25	chr6:127234800-127235400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr6:127235000-127240400	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr6:127235200-127235600	Enhancers	Fetal Brain Male	brain
28	chr6:127235200-127235800	Enhancers	Fetal Brain Female	brain
29	chr6:127235200-127236000	Enhancers	Fetal Lung	lung
30	chr6:127235200-127236200	Enhancers	NHDF-Ad	bronchial
31	chr6:127235400-127236200	Enhancers	Fetal Stomach	stomach
32	chr6:127235400-127240800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr6:127235600-127236600	Weak transcription	Fetal Brain Male	brain
34	chr6:127235800-127236200	Enhancers	Primary hematopoietic stem cells	blood
35	chr6:127235800-127236200	Weak transcription	Fetal Brain Female	brain
36	chr6:127236000-127240600	Weak transcription	Fetal Lung	lung
37	chr6:127236000-127241800	Enhancers	HUVEC	blood vessel
38	chr6:127236200-127236800	Enhancers	Fetal Brain Female	brain
39	chr6:127236200-127240400	Weak transcription	NHDF-Ad	bronchial
40	chr6:127236200-127240600	Weak transcription	Fetal Stomach	stomach
41	chr6:127236400-127237200	Enhancers	H9 Cell Line	embryonic stem cell
42	chr6:127236600-127236800	Enhancers	Fetal Brain Male	brain
43	chr6:127236600-127237000	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr6:127239600-127241600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr6:127239600-127241800	Enhancers	Muscle Satellite Cultured Cells	--
46	chr6:127239800-127241000	Enhancers	HSMM	muscle
47	chr6:127240200-127241800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr6:127240400-127240800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr6:127240400-127240800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr6:127240400-127241000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links