Variant report

Variant	nsv970368
Chromosome Location	chr6:139903788-139911187
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:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:62501774..62502414-chr6:139908405..139909252,2	Hela-S3	cervix:
2	chr6:139773028..139775843-chr6:139903683..139906144,2	K562	blood:
3	chr6:139694045..139697231-chr6:139910488..139913989,4	K562	blood:
4	chr6:139692154..139695185-chr6:139908683..139910556,3	MCF-7	breast:
5	chr6:139904227..139905139-chr6:140201272..140201808,2	MCF-7	breast:
6	chr6:139695373..139699220-chr6:139907427..139911701,8	MCF-7	breast:
7	chr6:139908271..139911254-chr6:139912012..139913665,2	MCF-7	breast:
8	chr6:139907382..139909260-chr6:139922632..139925256,2	K562	blood:
9	chr6:139851044..139853984-chr6:139908364..139910763,2	MCF-7	breast:
10	chr6:139691841..139699576-chr6:139900868..139917289,34	MCF-7	breast:
11	chr6:139908098..139910179-chr6:139916224..139919110,3	K562	blood:
12	chr6:139757629..139758356-chr6:139909352..139910086,2	MCF-7	breast:
13	chr6:139696948..139697455-chr6:139908797..139909656,2	MCF-7	breast:
14	chr6:139691228..139697226-chr6:139904818..139909765,9	K562	blood:
15	chr6:139892341..139894694-chr6:139904395..139906288,2	MCF-7	breast:
16	chr6:139904154..139906110-chr6:139909809..139911631,3	K562	blood:
17	chr6:139908098..139910179-chr6:139917133..139919110,3	K562	blood:
18	chr6:139852397..139852915-chr6:139909004..139909776,2	MCF-7	breast:
19	chr6:139907868..139910636-chr6:139948346..139950350,2	K562	blood:
20	chr6:139691228..139695923-chr6:139905258..139909765,7	K562	blood:
21	chr6:139694028..139695554-chr6:139910371..139911938,2	K562	blood:
22	chr6:139689865..139691753-chr6:139907672..139909566,2	MCF-7	breast:
23	chr6:139907871..139910269-chr6:139911458..139913743,2	K562	blood:
24	chr6:139902793..139905980-chr6:139905991..139910426,4	MCF-7	breast:
25	chr6:139902793..139905980-chr6:139905991..139910426,4	MCF-7	breast:
26	chr6:139904154..139906110-chr6:139909809..139911631,3	K562	blood:
27	chr16:88922830..88925812-chr6:139908847..139910895,2	MCF-7	breast:
28	chr6:139904084..139907083-chr6:139974866..139976418,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000167515	chromatin interactions
ENSG00000141012	chromatin interactions
ENSG00000164442	chromatin interactions
ENSG00000108654	chromatin interactions

Extended variants
information (count: 262 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:262 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574797488	chr6:139903802-139903803	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs147326833	chr6:139903852-139903853	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs560568158	chr6:139903853-139903854	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs531181822	chr6:139903880-139903881	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs79524268	chr6:139903959-139903960	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs113925570	chr6:139903985-139903986	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs185686304	chr6:139904039-139904040	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs370166683	chr6:139904049-139904050	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs532244784	chr6:139904054-139904055	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs547564319	chr6:139904096-139904097	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs190493781	chr6:139904248-139904249	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs530025049	chr6:139904251-139904252	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs548469150	chr6:139904268-139904269	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs60045683	chr6:139904273-139904274	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs182009778	chr6:139904330-139904331	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs552432749	chr6:139904352-139904353	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs570921857	chr6:139904376-139904377	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs572003886	chr6:139904446-139904447	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs553543802	chr6:139904568-139904569	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs6904658	chr6:139904632-139904633	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs535770503	chr6:139904736-139904737	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs562216736	chr6:139904769-139904770	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs575281094	chr6:139904786-139904787	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs557211794	chr6:139904809-139904810	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs530880618	chr6:139904860-139904861	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs575664548	chr6:139904888-139904889	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs12664553	chr6:139904892-139904893	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs111232423	chr6:139904960-139904961	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs540610301	chr6:139904982-139904983	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs374811065	chr6:139904998-139904999	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs13193288	chr6:139904999-139905000	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs564875483	chr6:139905062-139905063	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs376108857	chr6:139905095-139905096	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs560796096	chr6:139905101-139905102	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs564506578	chr6:139905146-139905147	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs540727527	chr6:139905155-139905156	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs559602250	chr6:139905162-139905163	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs187298396	chr6:139905170-139905171	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs61117481	chr6:139905228-139905229	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs532599311	chr6:139905254-139905255	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs530973116	chr6:139905258-139905259	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs546884598	chr6:139905259-139905260	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs9385868	chr6:139905284-139905285	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs570719021	chr6:139905300-139905301	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs528083573	chr6:139905301-139905302	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs535137231	chr6:139905356-139905357	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs546751161	chr6:139905450-139905451	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs6906198	chr6:139905456-139905457	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs59911498	chr6:139905496-139905497	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs373453609	chr6:139905508-139905509	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	21251322	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

Chromatin state (count:270 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:139899000-139907000	Weak transcription	K562	blood
2	chr6:139899600-139908800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr6:139900000-139904000	Weak transcription	NHLF	lung
4	chr6:139900000-139904400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:139900000-139907400	Weak transcription	Pancreas	Pancrea
6	chr6:139900000-139908800	Weak transcription	Fetal Lung	lung
7	chr6:139900200-139903800	Weak transcription	NH-A	brain
8	chr6:139900200-139904000	Weak transcription	NHEK	skin
9	chr6:139900200-139904200	Weak transcription	HMEC	breast
10	chr6:139900200-139904600	Weak transcription	Fetal Heart	heart
11	chr6:139900200-139909000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr6:139900400-139903800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:139900400-139904000	Weak transcription	Osteobl	bone
14	chr6:139900400-139904200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:139900400-139904200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr6:139900400-139904200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr6:139900400-139904200	Weak transcription	HSMM	muscle
18	chr6:139900400-139904200	Weak transcription	NHDF-Ad	bronchial
19	chr6:139900400-139908800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:139900400-139908800	Weak transcription	Fetal Intestine Large	intestine
21	chr6:139900800-139908800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr6:139900800-139919200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr6:139901000-139904000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr6:139901000-139904000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr6:139902400-139906800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr6:139902400-139909200	Weak transcription	Right Ventricle	heart
27	chr6:139902600-139906800	Weak transcription	Fetal Kidney	kidney
28	chr6:139902600-139907200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr6:139902600-139908000	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr6:139902800-139904000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr6:139903200-139906200	Enhancers	Placenta	Placenta
32	chr6:139903400-139904400	Enhancers	Placenta Amnion	Placenta Amnion
33	chr6:139903600-139905000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr6:139903800-139904800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr6:139903800-139905000	Enhancers	NH-A	brain
36	chr6:139903800-139905600	Enhancers	A549	lung
37	chr6:139904000-139904400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr6:139904000-139904800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr6:139904000-139905000	Enhancers	Muscle Satellite Cultured Cells	--
40	chr6:139904000-139905000	Enhancers	NHEK	skin
41	chr6:139904000-139905000	Enhancers	NHLF	lung
42	chr6:139904000-139905000	Enhancers	Osteobl	bone
43	chr6:139904200-139904600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr6:139904200-139904800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr6:139904200-139904800	Enhancers	Hela-S3	cervix
46	chr6:139904200-139904800	Enhancers	HSMM	muscle
47	chr6:139904200-139904800	Enhancers	NHDF-Ad	bronchial
48	chr6:139904200-139905000	Enhancers	HMEC	breast
49	chr6:139904200-139905400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr6:139904400-139904600	Enhancers	Sigmoid Colon	Sigmoid Colon

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