Variant report

Variant	esv2507819
Chromosome Location	chr6:119595970-119597506
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	chr6:119585220..119587892-chr6:119594736..119597108,2	K562	blood:

Extended variants
information (count: 79 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17442505	chr6:119595975-119595976	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs3798619	chr6:119596042-119596043	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs567621350	chr6:119596072-119596073	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567729487	chr6:119596106-119596107	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs17080935	chr6:119596117-119596118	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs180768819	chr6:119596150-119596151	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375771090	chr6:119596166-119596167	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543970097	chr6:119596188-119596189	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201377489	chr6:119596280-119596281	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551671511	chr6:119596281-119596282	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs4945633	chr6:119596282-119596283	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs577529388	chr6:119596305-119596306	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576305208	chr6:119596357-119596358	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12196583	chr6:119596360-119596361	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537217632	chr6:119596361-119596362	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs28635805	chr6:119596363-119596364	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs186403848	chr6:119596368-119596369	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577105476	chr6:119596376-119596377	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540948244	chr6:119596379-119596380	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12196627	chr6:119596383-119596384	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529220924	chr6:119596406-119596407	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs55642711	chr6:119596486-119596487	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377189884	chr6:119596510-119596511	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542976298	chr6:119596533-119596534	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562648826	chr6:119596534-119596535	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531578539	chr6:119596539-119596540	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551571521	chr6:119596540-119596541	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370113506	chr6:119596553-119596554	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375012871	chr6:119596572-119596573	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368501405	chr6:119596575-119596576	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372892850	chr6:119596597-119596598	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536369668	chr6:119596620-119596621	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs56372814	chr6:119596673-119596674	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs55639132	chr6:119596675-119596676	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552916586	chr6:119596679-119596680	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs56262658	chr6:119596682-119596683	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs56255400	chr6:119596692-119596693	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547407864	chr6:119596707-119596708	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567584369	chr6:119596714-119596715	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536527601	chr6:119596722-119596723	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559347720	chr6:119596737-119596738	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556487144	chr6:119596779-119596780	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570141384	chr6:119596799-119596800	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539234148	chr6:119596822-119596823	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs574085854	chr6:119596831-119596832	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs577692432	chr6:119596853-119596854	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs539815506	chr6:119596886-119596887	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs541535766	chr6:119596899-119596900	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs572911968	chr6:119596902-119596903	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs6932066	chr6:119596914-119596915	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:113)

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
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119558800-119602000	Weak transcription	Gastric	stomach
2	chr6:119589200-119598600	Weak transcription	Colon Smooth Muscle	Colon
3	chr6:119589200-119611000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr6:119590600-119621800	Weak transcription	Placenta	Placenta
5	chr6:119590800-119617400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr6:119590800-119626600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr6:119591000-119599800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:119591000-119599800	Weak transcription	Lung	lung
9	chr6:119591000-119600600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr6:119591000-119624200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr6:119591200-119602000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr6:119591200-119604600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:119591400-119601400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr6:119591800-119597000	Weak transcription	Fetal Kidney	kidney
15	chr6:119592000-119602200	Weak transcription	Left Ventricle	heart
16	chr6:119592000-119604200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr6:119592200-119597400	Weak transcription	NHLF	lung
18	chr6:119592200-119622200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr6:119592400-119596800	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr6:119592400-119597200	Weak transcription	Liver	Liver
21	chr6:119592400-119601200	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr6:119592400-119604800	Weak transcription	Fetal Intestine Large	intestine
23	chr6:119592400-119610600	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr6:119592400-119620800	Weak transcription	Duodenum Mucosa	Duodenum
25	chr6:119592400-119633600	Weak transcription	Primary T cells from cord blood	blood
26	chr6:119592600-119622200	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr6:119592600-119627200	Weak transcription	Dnd41	blood
28	chr6:119593000-119599800	Weak transcription	Aorta	Aorta
29	chr6:119593000-119622200	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr6:119593000-119624800	Weak transcription	Fetal Thymus	thymus
31	chr6:119593000-119626800	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr6:119593200-119604600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr6:119593600-119596800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr6:119593800-119596800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr6:119593800-119597000	Weak transcription	Primary B cells from cord blood	blood
36	chr6:119594000-119596000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr6:119594200-119605000	Strong transcription	HepG2	liver
38	chr6:119594400-119596000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr6:119594600-119596000	Enhancers	NHDF-Ad	bronchial
40	chr6:119594600-119598600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr6:119594800-119597000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr6:119595000-119597200	Weak transcription	Fetal Lung	lung
43	chr6:119595200-119596000	Strong transcription	K562	blood
44	chr6:119595400-119601600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr6:119595600-119596600	Weak transcription	Primary hematopoietic stem cells	blood
46	chr6:119595600-119596800	Weak transcription	Adipose Nuclei	Adipose
47	chr6:119595600-119597200	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr6:119595600-119597600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr6:119596000-119597000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr6:119596000-119597000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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