Variant report

Variant	nsv427768
Chromosome Location	chr6:132300468-132398477
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:32)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	6:132269655-132282174..6:132386945-132395246	GM12878	blood:
2	6:132269655-132282174..6:132301703-132305703	Hela-S3	cervix:
3	6:132317180-132317980..6:132646256-132647474	K562	blood:
4	6:132317180-132317980..6:132641847-132646256	K562	blood:
5	6:132269655-132282174..6:132384441-132386945	Hela-S3	cervix:
6	6:132269655-132282174..6:132326365-132328366	H1-hESC	embryonic stem cell:	embryo
7	6:132269655-132282174..6:132349036-132358071	K562	blood:
8	6:132182612-132191683..6:132386945-132395246	Hela-S3	cervix:
9	6:132269655-132282174..6:132373869-132383497	GM12878	blood:
10	chr6:132334438..132336912-chr6:132342769..132344935,2	MCF-7	breast:
11	chr6:132334438..132336912-chr6:132342769..132344935,2	MCF-7	breast:
12	6:132269655-132282174..6:132395246-132400652	H1-hESC	embryonic stem cell:	embryo
13	6:132269655-132282174..6:132317180-132317980	H1-hESC	embryonic stem cell:	embryo
14	chr6:132316653..132319485-chr6:132330291..132332319,2	K562	blood:
15	6:132269655-132282174..6:132333122-132335737	Hela-S3	cervix:
16	chr6:132316653..132319485-chr6:132330291..132332319,2	K562	blood:
17	6:132182612-132191683..6:132344161-132349036	Hela-S3	cervix:
18	chr6:132271245..132273331-chr6:132345025..132346642,2	MCF-7	breast:
19	chr6:132272369..132274652-chr6:132305636..132307204,2	MCF-7	breast:
20	6:132269655-132282174..6:132341777-132344161	GM12878	blood:
21	6:132269655-132282174..6:132383497-132384441	H1-hESC	embryonic stem cell:	embryo
22	6:132269655-132282174..6:132344161-132349036	H1-hESC	embryonic stem cell:	embryo
23	6:132269655-132282174..6:132331834-132333122	H1-hESC	embryonic stem cell:	embryo
24	6:132182612-132191683..6:132301703-132305703	GM12878	blood:
25	6:132182612-132191683..6:132373869-132383497	Hela-S3	cervix:
26	6:132269655-132282174..6:132364686-132367663	Hela-S3	cervix:
27	6:132269655-132282174..6:132337728-132339611	H1-hESC	embryonic stem cell:	embryo
28	6:132269655-132282174..6:132317980-132319790	H1-hESC	embryonic stem cell:	embryo
29	6:132269655-132282174..6:132361011-132363385	Hela-S3	cervix:
30	6:132364686-132367663..6:132646256-132647474	Hela-S3	cervix:
31	chr6:132249361..132250198-chr6:132344585..132345369,2	MCF-7	breast:
32	6:132176847-132180372..6:132373869-132383497	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ENPP1-2	chr6:132398348-132398533	ENSG00000227220.1

No data

Variant related genes	Relation type
ENSG00000197594	chromatin interactions
ENSG00000227220	chromatin interactions
ENSG00000118523	chromatin interactions
ENSG00000079931	chromatin interactions

Extended variants
information (count: 3068 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:3068 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560775470	chr6:132300505-132300506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs527887084	chr6:132300554-132300555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs570426946	chr6:132300591-132300592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188963798	chr6:132300641-132300642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546989473	chr6:132300702-132300703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs371448570	chr6:132300710-132300711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564587533	chr6:132300712-132300713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550228590	chr6:132300755-132300756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568462573	chr6:132300838-132300839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529228483	chr6:132300863-132300864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs374920516	chr6:132300864-132300865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs193134523	chr6:132300896-132300897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547384723	chr6:132300902-132300903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs115344652	chr6:132300909-132300910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553056863	chr6:132300970-132300971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs75950818	chr6:132300979-132300980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557496120	chr6:132301001-132301002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs183537123	chr6:132301044-132301045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs372072272	chr6:132301062-132301063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs150236190	chr6:132301075-132301076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs554988486	chr6:132301097-132301098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs188450815	chr6:132301105-132301106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs12214915	chr6:132301180-132301181	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs554169428	chr6:132301290-132301291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs73541587	chr6:132301298-132301299	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs80057890	chr6:132301307-132301308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs554849333	chr6:132301373-132301374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs564650822	chr6:132301381-132301382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs138910417	chr6:132301386-132301387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs543926258	chr6:132301420-132301421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs576703245	chr6:132301442-132301443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs562171937	chr6:132301448-132301449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs111622318	chr6:132301487-132301488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs375590509	chr6:132301533-132301534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs547740964	chr6:132301679-132301680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs191616698	chr6:132301694-132301695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs564955339	chr6:132301701-132301702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs532334172	chr6:132301704-132301705	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs533239503	chr6:132301709-132301710	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs149425457	chr6:132301719-132301720	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs551189166	chr6:132301767-132301768	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs115958321	chr6:132301807-132301808	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs536788686	chr6:132301845-132301846	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs144865096	chr6:132301852-132301853	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs567305397	chr6:132301891-132301892	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs566827260	chr6:132301894-132301895	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs139084762	chr6:132301901-132301902	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs13206710	chr6:132301908-132301909	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs184201456	chr6:132301926-132301927	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs188867457	chr6:132301961-132301962	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	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
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
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:701 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132277400-132305600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr6:132292800-132301600	Weak transcription	Stomach Mucosa	stomach
3	chr6:132296600-132304400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr6:132296800-132301400	Weak transcription	Fetal Kidney	kidney
5	chr6:132297000-132305400	Enhancers	Liver	Liver
6	chr6:132298000-132303000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr6:132298200-132300800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr6:132298200-132302200	Weak transcription	Right Atrium	heart
9	chr6:132298200-132302800	Weak transcription	Ovary	ovary
10	chr6:132298200-132319000	Weak transcription	Aorta	Aorta
11	chr6:132298400-132300800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr6:132298400-132301400	Weak transcription	Fetal Intestine Small	intestine
13	chr6:132298400-132301600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr6:132298600-132300800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr6:132298600-132301000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr6:132298800-132301200	Weak transcription	Colon Smooth Muscle	Colon
17	chr6:132299000-132300600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr6:132299200-132300800	Weak transcription	Osteobl	bone
19	chr6:132299200-132301200	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr6:132300000-132300600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr6:132300000-132301000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr6:132300000-132301200	Weak transcription	NHLF	lung
23	chr6:132300000-132301800	Weak transcription	Fetal Intestine Large	intestine
24	chr6:132300200-132302400	Enhancers	HepG2	liver
25	chr6:132300400-132303800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr6:132300400-132304600	Enhancers	HUVEC	blood vessel
27	chr6:132300600-132303200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr6:132300600-132306600	Enhancers	Muscle Satellite Cultured Cells	--
29	chr6:132300800-132303200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr6:132300800-132304800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr6:132300800-132306000	Enhancers	Osteobl	bone
32	chr6:132300800-132307200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr6:132301000-132301200	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr6:132301000-132301400	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr6:132301000-132302000	Enhancers	Rectal Smooth Muscle	rectum
36	chr6:132301000-132303200	Enhancers	HMEC	breast
37	chr6:132301000-132305000	Enhancers	NH-A	brain
38	chr6:132301000-132305000	Enhancers	NHDF-Ad	bronchial
39	chr6:132301000-132306200	Enhancers	HSMM	muscle
40	chr6:132301200-132301600	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr6:132301200-132302400	Enhancers	Colon Smooth Muscle	Colon
42	chr6:132301200-132303000	Enhancers	Duodenum Mucosa	Duodenum
43	chr6:132301200-132303000	Enhancers	Rectal Mucosa Donor 29	rectum
44	chr6:132301200-132305800	Enhancers	NHLF	lung
45	chr6:132301400-132301600	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr6:132301400-132302000	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr6:132301400-132302800	Enhancers	Fetal Kidney	kidney
48	chr6:132301400-132303000	Enhancers	Fetal Intestine Small	intestine
49	chr6:132301400-132303200	Enhancers	Small Intestine	intestine
50	chr6:132301400-132304000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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