Variant report

Variant	nsv1026819
Chromosome Location	chr6:139813809-139834012
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:24)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:139812402..139815311-chr6:139816711..139818432,2	K562	blood:
2	chr6:139770584..139773183-chr6:139828829..139830952,2	K562	blood:
3	chr6:139829217..139832116-chr6:139835147..139837059,2	K562	blood:
4	chr6:139808542..139810707-chr6:139817260..139819598,2	MCF-7	breast:
5	chr6:139694371..139697296-chr6:139832144..139835177,3	MCF-7	breast:
6	chr6:139692857..139697626-chr6:139818827..139822666,6	K562	blood:
7	chr6:139820561..139822171-chr6:139823750..139825747,3	K562	blood:
8	chr6:139818335..139820226-chr6:139826249..139828991,2	K562	blood:
9	chr6:139818335..139820226-chr6:139826249..139828991,2	K562	blood:
10	chr6:139817301..139819044-chr6:139820730..139822475,2	K562	blood:
11	chr6:139820561..139822171-chr6:139823750..139825747,3	K562	blood:
12	chr6:139697940..139700398-chr6:139825166..139828040,2	K562	blood:
13	chr6:139818335..139820226-chr6:139825228..139828991,3	K562	blood:
14	chr6:139817301..139819044-chr6:139820730..139822475,2	K562	blood:
15	chr6:139812402..139815311-chr6:139816711..139818432,2	K562	blood:
16	chr6:139829657..139832116-chr6:139834405..139837059,2	K562	blood:
17	chr6:139818335..139820226-chr6:139825228..139828991,3	K562	blood:
18	chr6:139832742..139835243-chr6:139835600..139839246,3	K562	blood:
19	chr6:139828566..139831156-chr6:139858781..139860705,2	K562	blood:
20	chr6:139811168..139812845-chr6:139833635..139836382,2	K562	blood:
21	chr6:139693524..139696523-chr6:139813770..139815573,2	K562	blood:
22	chr6:139692857..139697626-chr6:139818294..139823547,7	K562	blood:
23	chr6:139732315..139735138-chr6:139816703..139819497,2	K562	blood:
24	chr6:139809853..139812298-chr6:139813287..139815941,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HECA-5	chr6:139827601-139827853	NONHSAT115255
2	lnc-CITED2-6	chr6:139832994-139833290	NONHSAT115256
3	lnc-CITED2-6	chr6:139831825-139833290	ucscGeneNc_uc003qiq_1

No data

Variant related genes	Relation type
ENSG00000164442	chromatin interactions

Extended variants
information (count: 812 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:812 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533482416	chr6:139813818-139813819	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs190607301	chr6:139813827-139813828	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs551878257	chr6:139813891-139813892	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs560670121	chr6:139813892-139813893	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs527846504	chr6:139813936-139813937	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs549735525	chr6:139813938-139813939	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs151101539	chr6:139813954-139813955	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs112853907	chr6:139813992-139813993	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs146679800	chr6:139814022-139814023	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs138725103	chr6:139814044-139814045	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs539544092	chr6:139814055-139814056	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs557385641	chr6:139814062-139814063	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs572713214	chr6:139814076-139814077	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs10872516	chr6:139814140-139814141	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs146935434	chr6:139814158-139814159	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs371891452	chr6:139814212-139814213	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs544314766	chr6:139814228-139814229	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs575817859	chr6:139814260-139814261	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs561927132	chr6:139814267-139814268	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs576412176	chr6:139814268-139814269	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs545525907	chr6:139814320-139814321	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs137890869	chr6:139814329-139814330	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs527933543	chr6:139814332-139814333	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs180954214	chr6:139814360-139814361	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs561454176	chr6:139814361-139814362	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs541854763	chr6:139814367-139814368	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs149544081	chr6:139814368-139814369	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs9403081	chr6:139814392-139814393	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs539024794	chr6:139814393-139814394	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs186222405	chr6:139814415-139814416	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs540808519	chr6:139814435-139814436	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs564205649	chr6:139814437-139814438	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs35987370	chr6:139814512-139814513	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs566226995	chr6:139814516-139814517	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs191527712	chr6:139814574-139814575	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs9399282	chr6:139814614-139814615	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs573726190	chr6:139814623-139814624	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs386706394	chr6:139814645-139814646	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs12333148	chr6:139814646-139814647	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs368928317	chr6:139814690-139814691	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs578000399	chr6:139814694-139814695	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs545414892	chr6:139814780-139814781	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs182825797	chr6:139814812-139814813	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs187496525	chr6:139814869-139814870	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs560176171	chr6:139814915-139814916	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs547032758	chr6:139814927-139814928	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs531597155	chr6:139814934-139814935	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs543107188	chr6:139814946-139814947	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs561554757	chr6:139814953-139814954	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs531767714	chr6:139814955-139814956	Weak transcription	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:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:139804000-139818200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:139812000-139817600	Weak transcription	HepG2	liver
3	chr6:139815600-139815800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:139815800-139822800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:139816800-139818000	Enhancers	K562	blood
6	chr6:139817600-139818400	Enhancers	HepG2	liver
7	chr6:139817600-139820200	Enhancers	Pancreas	Pancrea
8	chr6:139817800-139818200	Enhancers	Liver	Liver
9	chr6:139818000-139819000	Flanking Active TSS	K562	blood
10	chr6:139818200-139818600	Enhancers	Fetal Intestine Large	intestine
11	chr6:139818200-139820000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr6:139819000-139820000	Enhancers	K562	blood
13	chr6:139819400-139820600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr6:139819800-139821200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr6:139819800-139821200	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr6:139820000-139820200	Enhancers	H1 Cell Line	embryonic stem cell
17	chr6:139820000-139820200	Enhancers	Ovary	ovary
18	chr6:139820000-139821000	Weak transcription	K562	blood
19	chr6:139820000-139821600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr6:139820200-139820800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr6:139820400-139821200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr6:139820400-139821200	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr6:139820400-139821200	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr6:139820400-139821400	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr6:139820400-139821400	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr6:139820800-139821000	Enhancers	Ovary	ovary
27	chr6:139820800-139821200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr6:139821000-139821200	Enhancers	H1 Cell Line	embryonic stem cell
29	chr6:139821000-139822600	Enhancers	K562	blood
30	chr6:139821600-139821800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr6:139822600-139829200	Weak transcription	K562	blood
32	chr6:139826800-139827600	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr6:139826800-139827800	Enhancers	H1 Cell Line	embryonic stem cell
34	chr6:139827000-139827600	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr6:139827400-139827800	Enhancers	HepG2	liver
36	chr6:139827400-139828000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr6:139827800-139828800	Weak transcription	HepG2	liver
38	chr6:139828000-139831200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr6:139828800-139831800	Enhancers	HepG2	liver
40	chr6:139829200-139829600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr6:139829200-139829600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr6:139829200-139829600	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr6:139829200-139829600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr6:139829200-139829600	Enhancers	Adipose Nuclei	Adipose
45	chr6:139829200-139829600	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr6:139829200-139829600	Enhancers	K562	blood
47	chr6:139829200-139830600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr6:139829200-139832800	Enhancers	Fetal Heart	heart
49	chr6:139829600-139830600	Weak transcription	Adipose Nuclei	Adipose
50	chr6:139829600-139831200	Weak transcription	K562	blood

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