Variant report

Variant	nsv970353
Chromosome Location	chr6:142702492-142705790
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:142648035..142651499-chr6:142703981..142705983,3	MCF-7	breast:
2	chr6:142702058..142703651-chr6:142704530..142706199,2	MCF-7	breast:
3	chr6:142615209..142616975-chr6:142701989..142704328,2	MCF-7	breast:
4	chr6:142702058..142703651-chr6:142704530..142706199,2	MCF-7	breast:
5	chr6:142622324..142625256-chr6:142705073..142708395,4	MCF-7	breast:
6	chr6:142701833..142703764-chr6:142704857..142706958,3	MCF-7	breast:
7	chr6:142695789..142698729-chr6:142704783..142708780,4	MCF-7	breast:
8	chr6:142697707..142700330-chr6:142702224..142704168,2	MCF-7	breast:
9	chr6:142701833..142703764-chr6:142704857..142706958,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000112414	chromatin interactions

Extended variants
information (count: 126 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:126 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9321868	chr6:142702505-142702506	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs7757571	chr6:142702589-142702590	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs142403989	chr6:142702597-142702598	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs566626947	chr6:142702605-142702606	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184801902	chr6:142702617-142702618	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs9496360	chr6:142702667-142702668	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs535577248	chr6:142702688-142702689	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534568638	chr6:142702696-142702697	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145940903	chr6:142702778-142702779	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs56970535	chr6:142702785-142702786	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189879828	chr6:142702799-142702800	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535197554	chr6:142702844-142702845	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557059781	chr6:142702860-142702861	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368307844	chr6:142702897-142702898	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575563557	chr6:142702915-142702916	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182046432	chr6:142702976-142702977	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564010559	chr6:142702998-142702999	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572816073	chr6:142703005-142703006	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374380544	chr6:142703037-142703038	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368299953	chr6:142703044-142703045	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375820239	chr6:142703067-142703068	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369969840	chr6:142703082-142703083	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544627788	chr6:142703088-142703089	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184591267	chr6:142703103-142703104	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371649497	chr6:142703104-142703105	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376452752	chr6:142703127-142703128	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2143390	chr6:142703137-142703138	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs373624230	chr6:142703138-142703139	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs199794153	chr6:142703143-142703144	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369567973	chr6:142703164-142703165	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201373020	chr6:142703165-142703166	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs114655730	chr6:142703194-142703195	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370952391	chr6:142703198-142703199	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531078956	chr6:142703226-142703227	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552821827	chr6:142703248-142703249	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189864305	chr6:142703303-142703304	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181434569	chr6:142703319-142703320	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs117315108	chr6:142703322-142703323	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547318910	chr6:142703323-142703324	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185287209	chr6:142703324-142703325	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529400541	chr6:142703327-142703328	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569826807	chr6:142703328-142703329	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556735207	chr6:142703332-142703333	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139843889	chr6:142703334-142703335	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529049887	chr6:142703339-142703340	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545558070	chr6:142703373-142703374	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557512752	chr6:142703398-142703399	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs79134513	chr6:142703406-142703407	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549205629	chr6:142703446-142703447	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189948982	chr6:142703453-142703454	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Autism	22495311	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
Gastric cancer	17908304	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
Colorectal cancer	16272173	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute monocytic leukemia	16498392	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
craniofacial dysmorphism	21918468	CNVD
Burkitt''s lymphoma	19759907	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142697000-142703200	Weak transcription	NHDF-Ad	bronchial
2	chr6:142698200-142702800	Enhancers	Primary hematopoietic stem cells	blood
3	chr6:142698600-142706200	Weak transcription	NHLF	lung
4	chr6:142698600-142733200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr6:142698800-142707600	Weak transcription	Placenta	Placenta
6	chr6:142698800-142707800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:142699600-142708000	Weak transcription	Pancreas	Pancrea
8	chr6:142699600-142709200	Weak transcription	Fetal Intestine Large	intestine
9	chr6:142699800-142702800	Weak transcription	HSMM	muscle
10	chr6:142699800-142705400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr6:142699800-142708000	Weak transcription	Liver	Liver
12	chr6:142699800-142709000	Weak transcription	Fetal Intestine Small	intestine
13	chr6:142699800-142718600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:142699800-142719200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr6:142700000-142703000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:142700000-142703000	Weak transcription	Osteobl	bone
17	chr6:142700000-142705600	Weak transcription	NHEK	skin
18	chr6:142700000-142705800	Weak transcription	NH-A	brain
19	chr6:142700000-142706000	Weak transcription	HSMMtube	muscle
20	chr6:142700000-142714200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:142700200-142705200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:142700400-142702800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr6:142700400-142705600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr6:142700400-142709000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr6:142700400-142709000	Weak transcription	Fetal Lung	lung
26	chr6:142700600-142703000	Weak transcription	HUVEC	blood vessel
27	chr6:142700600-142705800	Weak transcription	Hela-S3	cervix
28	chr6:142701400-142703400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr6:142702000-142703000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr6:142702000-142703600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr6:142702200-142702600	Weak transcription	HepG2	liver
32	chr6:142702200-142703000	Enhancers	A549	lung
33	chr6:142702200-142704400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr6:142702200-142707800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr6:142702400-142702800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr6:142702600-142706000	Strong transcription	HepG2	liver
37	chr6:142702800-142703200	Enhancers	HSMM	muscle
38	chr6:142702800-142703400	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr6:142702800-142705000	Flanking Active TSS	Primary hematopoietic stem cells	blood
40	chr6:142702800-142705800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr6:142703000-142703200	Genic enhancers	HUVEC	blood vessel
42	chr6:142703000-142703400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr6:142703000-142703400	Genic enhancers	A549	lung
44	chr6:142703000-142703600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr6:142703000-142703600	Enhancers	Osteobl	bone
46	chr6:142703200-142704000	Enhancers	NHDF-Ad	bronchial
47	chr6:142703200-142704400	Weak transcription	HSMM	muscle
48	chr6:142703200-142708200	Strong transcription	HUVEC	blood vessel
49	chr6:142703400-142703800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr6:142703400-142705600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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