Variant report

Variant	nsv981158
Chromosome Location	chr6:76027339-76030595
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr6:76029806-76030006	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr6:76029741-76029998	A549	lung:	n/a	n/a
3	CEBPB	chr6:76029716-76030060	HepG2	liver:	n/a	n/a
4	CEBPB	chr6:76029730-76030056	IMR90	lung:	n/a	n/a
5	GATA3	chr6:76027031-76027988	SK-N-SH	brain:	n/a	chr6:76027158-76027174 chr6:76027163-76027170 chr6:76027163-76027173 chr6:76027161-76027170 chr6:76027163-76027170 chr6:76027161-76027171 chr6:76027156-76027177 chr6:76027163-76027170
6	SP1	chr6:76027216-76027581	H1-hESC	embryonic stem cell:	n/a	n/a
7	TEAD4	chr6:76027188-76027607	H1-hESC	embryonic stem cell:	n/a	n/a
8	TEAD4	chr6:76027131-76027628	ECC-1	luminal epithelium:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM30A-2	chr6:76028817-76029696	NONHSAT113606

Variant related genes	Relation type
HMGB1P39	TF binding region

Extended variants
information (count: 137 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:137 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370850611	chr6:76027345-76027346	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs13214521	chr6:76027346-76027347	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs147653586	chr6:76027384-76027385	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs543374161	chr6:76027389-76027390	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs368836941	chr6:76027390-76027391	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs577282995	chr6:76027414-76027415	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561982849	chr6:76027426-76027427	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529594338	chr6:76027459-76027460	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112207762	chr6:76027474-76027475	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183821844	chr6:76027484-76027485	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187036388	chr6:76027530-76027531	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537921736	chr6:76027577-76027578	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142276626	chr6:76027584-76027585	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145912290	chr6:76027700-76027701	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs564165777	chr6:76027737-76027738	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs556367253	chr6:76027738-76027739	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs575314151	chr6:76027797-76027798	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs12529811	chr6:76027805-76027806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371464561	chr6:76027806-76027807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531699514	chr6:76027818-76027819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73751113	chr6:76027866-76027867	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs73751114	chr6:76027874-76027875	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs192852972	chr6:76027884-76027885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7772989	chr6:76027913-76027914	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs6938694	chr6:76027938-76027939	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs13202210	chr6:76027944-76027945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs35536817	chr6:76027945-76027946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539569800	chr6:76028008-76028009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557857319	chr6:76028025-76028026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs575964228	chr6:76028062-76028063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs148949736	chr6:76028075-76028076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs555376232	chr6:76028083-76028084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs551917063	chr6:76028112-76028113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs7753301	chr6:76028118-76028119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540793028	chr6:76028133-76028134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs540915914	chr6:76028150-76028151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs76456355	chr6:76028184-76028185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533951077	chr6:76028266-76028267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs577391874	chr6:76028283-76028284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs545911795	chr6:76028332-76028333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs13218813	chr6:76028356-76028357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs143728996	chr6:76028370-76028371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs542161433	chr6:76028405-76028406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs543846741	chr6:76028411-76028412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs376795216	chr6:76028481-76028482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs561927570	chr6:76028493-76028494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs529628302	chr6:76028536-76028537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs185355631	chr6:76028538-76028539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs566299355	chr6:76028548-76028549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs9689477	chr6:76028564-76028565	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Endometrioid adenocarcinoma	16974079	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	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
Prostate cancer	16573809	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	CNVD
Chronic lymphocytic leukemia	21546498	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelodysplastic syndrome	18508791	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Salivary gland tumor	18059337	CNVD
Lung cancer	16773561	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial cell carcinoma	18451213	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Glioblastoma multiforme	21510904	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:75995400-76027600	Weak transcription	Aorta	Aorta
2	chr6:76010200-76027400	Weak transcription	Psoas Muscle	Psoas
3	chr6:76010400-76027600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr6:76016200-76044400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr6:76018400-76027600	Weak transcription	Fetal Brain Male	brain
6	chr6:76019200-76027400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr6:76020600-76027400	Weak transcription	Ovary	ovary
8	chr6:76022200-76028000	Weak transcription	Lung	lung
9	chr6:76022600-76027400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:76024800-76027400	Weak transcription	Left Ventricle	heart
11	chr6:76024800-76027400	Weak transcription	Right Ventricle	heart
12	chr6:76024800-76027400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr6:76024800-76042200	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr6:76024800-76047200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr6:76026000-76027800	Enhancers	Fetal Lung	lung
16	chr6:76026600-76028400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr6:76026800-76027600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:76026800-76027800	Enhancers	H1 Cell Line	embryonic stem cell
19	chr6:76026800-76027800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr6:76026800-76027800	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr6:76026800-76027800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:76026800-76028000	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr6:76026800-76028000	Enhancers	HUVEC	blood vessel
24	chr6:76026800-76028200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr6:76027000-76027400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr6:76027000-76027400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr6:76027000-76027400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr6:76027000-76027400	Enhancers	NH-A	brain
29	chr6:76027000-76027800	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr6:76027000-76027800	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr6:76027000-76027800	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr6:76027000-76027800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr6:76027000-76027800	Enhancers	HSMMtube	muscle
34	chr6:76027000-76028000	Enhancers	NHDF-Ad	bronchial
35	chr6:76027000-76029000	Enhancers	Fetal Heart	heart
36	chr6:76027200-76027400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr6:76027200-76027400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr6:76027200-76027600	Enhancers	Colon Smooth Muscle	Colon
39	chr6:76027200-76027600	Enhancers	Fetal Muscle Leg	muscle
40	chr6:76027200-76027600	Enhancers	Fetal Stomach	stomach
41	chr6:76027200-76027600	Flanking Active TSS	NHLF	lung
42	chr6:76027200-76027800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
43	chr6:76027200-76027800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr6:76027200-76027800	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr6:76027200-76027800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr6:76027200-76027800	Enhancers	Muscle Satellite Cultured Cells	--
47	chr6:76027200-76028200	Enhancers	Osteobl	bone
48	chr6:76027400-76027600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr6:76027400-76027600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr6:76027400-76027600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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