Variant report

Variant	nsv442012
Chromosome Location	chr6:147210681-147219817
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:16)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:147212648..147214210-chr6:147483163..147484872,2	K562	blood:
2	chr6:147218917..147220717-chr6:147520720..147523033,2	K562	blood:
3	chr6:147209785..147211664-chr6:147702919..147705378,2	K562	blood:
4	chr6:147218096..147220115-chr6:147523787..147525922,3	K562	blood:
5	chr6:147215337..147217786-chr6:147543040..147544662,2	K562	blood:
6	chr6:147210436..147217668-chr6:147521992..147527584,13	K562	blood:
7	chr6:147219792..147222119-chr6:147481402..147483994,2	K562	blood:
8	chr6:147204253..147217184-chr6:147521370..147537831,35	K562	blood:
9	chr6:147147256..147150089-chr6:147215364..147218093,2	K562	blood:
10	chr6:147212479..147214139-chr6:147360412..147363401,2	K562	blood:
11	chr6:147218209..147220356-chr6:147630497..147633401,2	K562	blood:
12	chr6:147216360..147218766-chr6:147497168..147498938,2	K562	blood:
13	chr6:147217069..147220905-chr6:147535647..147540121,4	K562	blood:
14	chr6:147211953..147214210-chr6:147481502..147484872,3	K562	blood:
15	chr6:147217369..147219463-chr6:147527173..147529417,2	K562	blood:
16	chr6:147217791..147220751-chr6:147534803..147537147,3	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SHPRH-6	chr6:147213947-147214165	l_3289_chr6:147204158-147214165_brain
2	lnc-SHPRH-6	chr6:147213618-147213852	l_3289_chr6:147204158-147214165_brain
3	lnc-C6orf103-4	chr6:147213169-147213356	NONHSAT115444

No data

Variant related genes	Relation type
ENSG00000164506	chromatin interactions
ENSG00000233452	chromatin interactions

Extended variants
information (count: 332 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:332 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139192999	chr6:147210821-147210822	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs577914348	chr6:147210848-147210849	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs377201308	chr6:147210898-147210899	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs62434836	chr6:147210978-147210979	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs542806650	chr6:147211011-147211012	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs372382801	chr6:147211021-147211022	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs144064096	chr6:147211066-147211067	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs549312904	chr6:147211124-147211125	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs189207173	chr6:147211140-147211141	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs530561319	chr6:147211149-147211150	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs550544256	chr6:147211168-147211169	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs201944087	chr6:147211196-147211197	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs570487571	chr6:147211223-147211224	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs554478569	chr6:147211249-147211250	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs375201774	chr6:147211274-147211275	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs546884708	chr6:147211286-147211287	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs566797405	chr6:147211301-147211302	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs146416698	chr6:147211338-147211339	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs555284829	chr6:147211348-147211349	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs569325175	chr6:147211360-147211361	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs574271684	chr6:147211369-147211370	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs559509947	chr6:147211373-147211374	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs528143917	chr6:147211405-147211406	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs139799020	chr6:147211412-147211413	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs577651286	chr6:147211415-147211416	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs142065279	chr6:147211443-147211444	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs180678956	chr6:147211522-147211523	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs574260213	chr6:147211624-147211625	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs543197009	chr6:147211660-147211661	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs62434837	chr6:147211694-147211695	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs9497665	chr6:147211695-147211696	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs151103366	chr6:147211697-147211698	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs141121573	chr6:147211712-147211713	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs576880752	chr6:147211768-147211769	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs186502915	chr6:147211783-147211784	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs566734361	chr6:147211815-147211816	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs529217010	chr6:147211826-147211827	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs549157873	chr6:147211831-147211832	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs568985333	chr6:147211874-147211875	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs62434838	chr6:147211875-147211876	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs557796519	chr6:147211882-147211883	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs571410123	chr6:147211920-147211921	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs12190795	chr6:147211933-147211934	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs553789997	chr6:147211934-147211935	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs150242138	chr6:147211981-147211982	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs542977570	chr6:147211988-147211989	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs62434839	chr6:147211993-147211994	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs147939300	chr6:147212034-147212035	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs141627157	chr6:147212037-147212038	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs564125636	chr6:147212038-147212039	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
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
Gastric cancer	17908304	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
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	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
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
Lung cancer	18438408	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147202200-147212400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr6:147203200-147212000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr6:147207000-147213000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:147207400-147212400	Weak transcription	NHDF-Ad	bronchial
5	chr6:147207600-147212000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr6:147208800-147212400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:147209200-147212400	Weak transcription	NHLF	lung
8	chr6:147209400-147211800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr6:147209400-147212400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:147209400-147212600	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr6:147209400-147215600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr6:147209600-147212000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr6:147209600-147212400	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr6:147209600-147213000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr6:147210000-147210800	Flanking Active TSS	K562	blood
16	chr6:147210000-147215200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:147210600-147212000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr6:147210800-147213000	Enhancers	K562	blood
19	chr6:147211800-147214000	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr6:147211800-147214400	Enhancers	HSMM	muscle
21	chr6:147211800-147214600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr6:147212000-147212400	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr6:147212000-147212400	Enhancers	Fetal Lung	lung
24	chr6:147212000-147212600	Enhancers	HSMMtube	muscle
25	chr6:147212000-147213200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr6:147212000-147214200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr6:147212000-147215200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr6:147212000-147215800	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr6:147212200-147212600	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr6:147212200-147214600	Enhancers	Muscle Satellite Cultured Cells	--
31	chr6:147212400-147212800	Weak transcription	Fetal Lung	lung
32	chr6:147212400-147213000	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr6:147212400-147214200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr6:147212400-147214400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr6:147212400-147214400	Enhancers	NHDF-Ad	bronchial
36	chr6:147212400-147215000	Enhancers	Primary hematopoietic stem cells	blood
37	chr6:147212400-147215000	Enhancers	NHLF	lung
38	chr6:147212600-147213000	Weak transcription	HSMMtube	muscle
39	chr6:147212600-147214200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr6:147212600-147215000	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr6:147212800-147213400	Enhancers	Fetal Lung	lung
42	chr6:147213000-147214200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr6:147213000-147214200	Enhancers	HSMMtube	muscle
44	chr6:147213000-147214200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr6:147213000-147214400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr6:147213000-147214400	Enhancers	Osteobl	bone
47	chr6:147213000-147214600	Flanking Active TSS	K562	blood
48	chr6:147213000-147214800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr6:147213200-147214200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr6:147213200-147214400	Enhancers	HUVEC	blood vessel

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