Variant report

Variant	nsv970350
Chromosome Location	chr6:132317890-132327515
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:132316653..132319485-chr6:132330291..132332319,2	K562	blood:
2	6:132317180-132317980..6:132646256-132647474	K562	blood:
3	6:132269655-132282174..6:132326365-132328366	H1-hESC	embryonic stem cell:	embryo
4	6:132317180-132317980..6:132641847-132646256	K562	blood:
5	6:132269655-132282174..6:132317980-132319790	H1-hESC	embryonic stem cell:	embryo
6	6:132269655-132282174..6:132317180-132317980	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
ENSG00000079931	chromatin interactions
ENSG00000118523	chromatin interactions
ENSG00000227220	chromatin interactions

Extended variants
information (count: 328 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:328 , 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	rs138820414	chr6:132317909-132317910	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs528109713	chr6:132317949-132317950	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs546605541	chr6:132317955-132317956	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs370043459	chr6:132317966-132317967	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs79631783	chr6:132317969-132317970	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs142783496	chr6:132317998-132317999	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs79407556	chr6:132318002-132318003	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs4285348	chr6:132318046-132318047	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs537198461	chr6:132318066-132318067	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs233938	chr6:132318087-132318088	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs188683348	chr6:132318088-132318089	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs565815775	chr6:132318163-132318164	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs534729910	chr6:132318164-132318165	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs12200142	chr6:132318165-132318166	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs372228827	chr6:132318176-132318177	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs577915845	chr6:132318182-132318183	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs555923798	chr6:132318200-132318201	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs139756607	chr6:132318208-132318209	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs193270419	chr6:132318260-132318261	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs183322402	chr6:132318300-132318301	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs575370744	chr6:132318321-132318322	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs373868732	chr6:132318426-132318427	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs542810753	chr6:132318474-132318475	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs73779174	chr6:132318505-132318506	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs538516493	chr6:132318570-132318571	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs188674044	chr6:132318585-132318586	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs147405776	chr6:132318590-132318591	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs191643278	chr6:132318596-132318597	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs139186301	chr6:132318599-132318600	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs184147477	chr6:132318600-132318601	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs563977226	chr6:132318823-132318824	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs553504268	chr6:132318873-132318874	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs188871125	chr6:132318924-132318925	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs76118992	chr6:132318946-132318947	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs79434582	chr6:132318947-132318948	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs75341022	chr6:132318949-132318950	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs79284641	chr6:132318952-132318953	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs191347857	chr6:132318979-132318980	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs183925312	chr6:132319028-132319029	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs149541391	chr6:132319058-132319059	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs564361593	chr6:132319126-132319127	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs542362097	chr6:132319234-132319235	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs190242250	chr6:132319240-132319241	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs233939	chr6:132319245-132319246	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs182464324	chr6:132319247-132319248	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs569158043	chr6:132319299-132319300	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs536480624	chr6:132319302-132319303	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs554802902	chr6:132319322-132319323	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs374831396	chr6:132319365-132319366	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs112941972	chr6:132319373-132319374	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Colorectal cancer	16272173	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
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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	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
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21785460	CNVD
Kartagener syndrome	16639409	CNVD
Breast cancer	17133270	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
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18592004	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Acute lymphoblastic leukemia	18458336	CNVD

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132298200-132319000	Weak transcription	Aorta	Aorta
2	chr6:132303000-132320600	Weak transcription	Left Ventricle	heart
3	chr6:132304800-132320600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:132306200-132319800	Weak transcription	HSMM	muscle
5	chr6:132306200-132321400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr6:132316200-132318200	Enhancers	HMEC	breast
7	chr6:132316400-132318000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr6:132316400-132318200	Enhancers	Muscle Satellite Cultured Cells	--
9	chr6:132316600-132318200	Enhancers	HUVEC	blood vessel
10	chr6:132316800-132318000	Enhancers	NH-A	brain
11	chr6:132316800-132318000	Enhancers	Osteobl	bone
12	chr6:132316800-132318200	Enhancers	NHEK	skin
13	chr6:132317000-132318200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr6:132317600-132324400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr6:132317800-132318800	Weak transcription	A549	lung
16	chr6:132317800-132318800	Enhancers	HepG2	liver
17	chr6:132317800-132319000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr6:132317800-132319800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:132317800-132320600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr6:132318000-132319400	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr6:132318000-132319800	Enhancers	Fetal Intestine Large	intestine
22	chr6:132318000-132320600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr6:132318200-132319200	Enhancers	Fetal Stomach	stomach
24	chr6:132318200-132319600	Enhancers	Fetal Intestine Small	intestine
25	chr6:132318200-132320000	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr6:132318600-132318800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr6:132318600-132320000	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr6:132318600-132320800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr6:132318800-132319200	Enhancers	Placenta	Placenta
30	chr6:132318800-132319200	Enhancers	Gastric	stomach
31	chr6:132318800-132319200	Flanking Active TSS	HepG2	liver
32	chr6:132318800-132320000	Enhancers	A549	lung
33	chr6:132318800-132320800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr6:132318800-132324800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr6:132319000-132319200	Enhancers	Aorta	Aorta
36	chr6:132319000-132319200	Enhancers	Psoas Muscle	Psoas
37	chr6:132319000-132319400	Enhancers	Liver	Liver
38	chr6:132319000-132319400	Enhancers	Stomach Mucosa	stomach
39	chr6:132319200-132319800	Weak transcription	Aorta	Aorta
40	chr6:132319200-132320000	Weak transcription	Fetal Stomach	stomach
41	chr6:132319200-132320400	Enhancers	HepG2	liver
42	chr6:132319200-132320800	Enhancers	Rectal Mucosa Donor 29	rectum
43	chr6:132319400-132319800	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr6:132319400-132321800	Enhancers	Fetal Heart	heart
45	chr6:132319600-132320800	Enhancers	HSMMtube	muscle
46	chr6:132319800-132320000	Enhancers	Aorta	Aorta
47	chr6:132319800-132320000	Enhancers	Psoas Muscle	Psoas
48	chr6:132319800-132320000	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr6:132319800-132320200	Enhancers	Stomach Smooth Muscle	stomach
50	chr6:132319800-132320400	Enhancers	Brain Substantia Nigra	brain

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