Variant report

Variant	esv2829867
Chromosome Location	chr6:110404180-110414749
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:110400293..110402395-chr6:110404111..110406019,2	K562	blood:
2	chr6:110397087..110399467-chr6:110408778..110410725,2	K562	blood:
3	chr6:110414174..110416824-chr6:110419840..110421905,2	K562	blood:

Extended variants
information (count: 351 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:351 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9386879	chr6:110404180-110404181	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs535223083	chr6:110404212-110404213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184885920	chr6:110404233-110404234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188459652	chr6:110404274-110404275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376177647	chr6:110404305-110404306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559495656	chr6:110404331-110404332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528397194	chr6:110404375-110404376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201157629	chr6:110404396-110404397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565439387	chr6:110404409-110404410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570011437	chr6:110404568-110404569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535611320	chr6:110404569-110404570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376696787	chr6:110404570-110404571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555192013	chr6:110404573-110404574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562580124	chr6:110404575-110404576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185781348	chr6:110404583-110404584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9400362	chr6:110404636-110404637	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs550536105	chr6:110404637-110404638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567291170	chr6:110404658-110404659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs566991636	chr6:110404659-110404660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs536345500	chr6:110404660-110404661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs555686557	chr6:110404671-110404672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs566225973	chr6:110404676-110404677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs113668572	chr6:110404685-110404686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs557999092	chr6:110404701-110404702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs577893826	chr6:110404717-110404718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs530082450	chr6:110404718-110404719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs537079406	chr6:110404732-110404733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs546624368	chr6:110404733-110404734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs566416949	chr6:110404806-110404807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574096538	chr6:110404807-110404808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs543061071	chr6:110404868-110404869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs73533841	chr6:110404898-110404899	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs573047579	chr6:110404910-110404911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs374983521	chr6:110404922-110404923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs116860442	chr6:110404961-110404962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs181176953	chr6:110404983-110404984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs373922330	chr6:110405018-110405019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs530817235	chr6:110405019-110405020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555889990	chr6:110405095-110405096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs560896065	chr6:110405126-110405127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs529764827	chr6:110405135-110405136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs546643149	chr6:110405136-110405137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs187079681	chr6:110405141-110405142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs145314279	chr6:110405142-110405143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs12664024	chr6:110405151-110405152	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs191512261	chr6:110405337-110405338	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565932203	chr6:110405386-110405387	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs72934064	chr6:110405467-110405468	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs556168582	chr6:110405476-110405477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147665021	chr6:110405484-110405485	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

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
Acute lymphoblastic leukemia	17443227	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
Leukemia	18688285	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
Chronic lymphocytic leukemia	20421269	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Basal cell lymphoma	17170743	CNVD
Prostate cancer	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Autism	17483303	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
abnormal development	18461090	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Systemic lupus erythematosus	19220326	CNVD
Cancer	17160897	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Acute lymphoblastic leukemia	17229543	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Intellectual disability	22102821	CNVD
Bipolar disorder	19114987	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:110390000-110405200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:110397000-110412800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:110397000-110415400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr6:110401200-110405200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:110402800-110414400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:110402800-110419800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:110404600-110406800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr6:110405000-110405400	Enhancers	NHDF-Ad	bronchial
9	chr6:110405000-110405600	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr6:110405000-110405600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:110405000-110405800	Enhancers	Ovary	ovary
12	chr6:110405000-110405800	Enhancers	HepG2	liver
13	chr6:110405000-110406000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:110405200-110405400	Enhancers	Colon Smooth Muscle	Colon
15	chr6:110405200-110405600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:110405200-110405800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr6:110405200-110405800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:110405200-110406000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr6:110405400-110405600	Enhancers	Fetal Kidney	kidney
20	chr6:110405400-110405800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr6:110405400-110418000	Weak transcription	Colon Smooth Muscle	Colon
22	chr6:110405600-110422800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:110405800-110408000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr6:110405800-110412600	Weak transcription	Fetal Kidney	kidney
25	chr6:110405800-110417200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:110405800-110422800	Weak transcription	Ovary	ovary
27	chr6:110406000-110408000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr6:110408000-110408200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr6:110408000-110409400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr6:110408800-110418400	Weak transcription	Fetal Stomach	stomach
31	chr6:110409200-110409400	Enhancers	GM12878-XiMat	blood
32	chr6:110409400-110410400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr6:110409400-110414800	Weak transcription	NHEK	skin
34	chr6:110410400-110411400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr6:110410400-110422800	Weak transcription	Primary B cells from cord blood	blood
36	chr6:110410600-110416200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr6:110411200-110419800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr6:110411200-110422800	Weak transcription	NH-A	brain
39	chr6:110411400-110412200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr6:110411600-110420000	Weak transcription	Fetal Brain Female	brain
41	chr6:110412200-110412400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr6:110412200-110419800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr6:110412400-110412600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr6:110412400-110416000	Weak transcription	Brain Cingulate Gyrus	brain
45	chr6:110412400-110416800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr6:110412600-110413400	Strong transcription	Fetal Kidney	kidney
47	chr6:110412600-110416000	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr6:110412600-110419800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr6:110412800-110413400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr6:110413400-110415000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links