Variant report

Variant	esv3473223
Chromosome Location	chr6:119039408-119040441
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:119040106..119042403-chr6:119044771..119046416,2	K562	blood:
2	chr6:118902893..118904568-chr6:119037058..119039645,2	K562	blood:
3	chr6:119033951..119036534-chr6:119040434..119042277,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1771748	chr6:119039482-119039483	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs181998555	chr6:119039509-119039510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558259908	chr6:119039510-119039511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs373390588	chr6:119039519-119039520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs76883611	chr6:119039524-119039525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534139619	chr6:119039557-119039558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs78989950	chr6:119039596-119039597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs186379284	chr6:119039609-119039610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543350900	chr6:119039621-119039622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs144364620	chr6:119039638-119039639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575226714	chr6:119039672-119039673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543837790	chr6:119039684-119039685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146222761	chr6:119039791-119039792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs536886451	chr6:119039792-119039793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs368246358	chr6:119039830-119039831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559677984	chr6:119039840-119039841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs9481852	chr6:119039866-119039867	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs541910594	chr6:119039869-119039870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs139174335	chr6:119039900-119039901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs72962985	chr6:119039919-119039920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs374954501	chr6:119039961-119039962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs563488687	chr6:119040086-119040087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190877260	chr6:119040101-119040102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149891432	chr6:119040111-119040112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111724881	chr6:119040138-119040139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569036133	chr6:119040144-119040145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144889587	chr6:119040166-119040167	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551451795	chr6:119040180-119040181	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182630603	chr6:119040181-119040182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs118012797	chr6:119040221-119040222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369238705	chr6:119040285-119040286	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557342684	chr6:119040305-119040306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553845098	chr6:119040333-119040334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567559760	chr6:119040349-119040350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149022858	chr6:119040351-119040352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535678196	chr6:119040368-119040369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114155674	chr6:119040378-119040379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559381324	chr6:119040380-119040381	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530917248	chr6:119040384-119040385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576630058	chr6:119040389-119040390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142222922	chr6:119040438-119040439	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:111)

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
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	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
Breast cancer	18698023	CNVD
Mental retardation	18854857	CNVD
Leukemia	18688285	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Liver carcinoma	19366792	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119028400-119040600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:119031600-119040200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr6:119031600-119040400	Weak transcription	Psoas Muscle	Psoas
4	chr6:119031600-119044400	Weak transcription	Fetal Heart	heart
5	chr6:119031600-119045600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr6:119032000-119040000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr6:119033200-119039800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr6:119034600-119039600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:119034600-119040000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:119034600-119040000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr6:119034600-119040600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr6:119034800-119040000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:119035000-119039800	Weak transcription	NHDF-Ad	bronchial
14	chr6:119035000-119040400	Weak transcription	HSMM	muscle
15	chr6:119035600-119039600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr6:119035800-119040000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr6:119037200-119040000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr6:119037200-119040000	Weak transcription	HSMMtube	muscle
19	chr6:119037200-119040200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr6:119037200-119040400	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr6:119037200-119040600	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr6:119039000-119040200	Weak transcription	NHLF	lung
23	chr6:119039000-119040400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr6:119039000-119040400	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr6:119039000-119042200	Enhancers	Thymus	Thymus
26	chr6:119039000-119043000	Enhancers	Fetal Thymus	thymus
27	chr6:119039000-119043800	Enhancers	Primary T cells from cord blood	blood
28	chr6:119039000-119043800	Enhancers	Primary T cells fromperipheralblood	blood
29	chr6:119039000-119045000	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr6:119039000-119045000	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr6:119039000-119046000	Enhancers	Primary B cells from peripheral blood	blood
32	chr6:119039200-119041200	Enhancers	Fetal Muscle Leg	muscle
33	chr6:119039200-119043800	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr6:119039400-119041200	Enhancers	K562	blood
35	chr6:119039400-119042000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr6:119039400-119043000	Enhancers	Dnd41	blood
37	chr6:119039400-119043200	Enhancers	Primary B cells from cord blood	blood
38	chr6:119039400-119048600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr6:119039600-119041200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr6:119039600-119042200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr6:119039800-119040800	Enhancers	NHDF-Ad	bronchial
42	chr6:119039800-119041600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr6:119040000-119040400	Enhancers	GM12878-XiMat	blood
44	chr6:119040000-119040800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr6:119040000-119040800	Enhancers	Muscle Satellite Cultured Cells	--
46	chr6:119040000-119040800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr6:119040000-119040800	Enhancers	HSMMtube	muscle
48	chr6:119040000-119041000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr6:119040000-119041400	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr6:119040000-119041800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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