Variant report

Variant	nsv886729
Chromosome Location	chr6:142192725-142277769
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:18)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:142205375..142208180-chr6:142219479..142222189,2	K562	blood:
2	chr6:142190969..142193870-chr6:142195236..142197243,2	K562	blood:
3	chr6:142190969..142193870-chr6:142195236..142197243,2	K562	blood:
4	chr16:67562536..67565391-chr6:142229996..142232688,2	MCF-7	breast:
5	chr6:142227139..142229505-chr6:142234507..142237045,2	K562	blood:
6	chr6:142231700..142234111-chr6:142235072..142237371,2	K562	blood:
7	chr6:142205375..142208180-chr6:142219479..142222189,2	K562	blood:
8	chr6:142190534..142192116-chr6:142194613..142196744,2	K562	blood:
9	chr6:142221871..142224058-chr6:142226316..142228227,2	K562	blood:
10	chr6:142227139..142229505-chr6:142234507..142237045,2	K562	blood:
11	chr6:142249261..142252378-chr6:142252599..142255547,3	K562	blood:
12	chr6:142221871..142224058-chr6:142226316..142228227,2	K562	blood:
13	chr6:142225504..142227583-chr6:142228227..142231169,2	K562	blood:
14	chr6:142225504..142227583-chr6:142228227..142231169,2	K562	blood:
15	chr6:142249261..142252378-chr6:142252599..142255547,3	K562	blood:
16	chr6:142200359..142202842-chr6:142205360..142207549,2	K562	blood:
17	chr6:142200359..142202842-chr6:142205360..142207549,2	K562	blood:
18	chr6:142231700..142234111-chr6:142235072..142237371,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GJE1-7	chr6:142199849-142200254	NONHSAT115300
2	lnc-GJE1-7	chr6:142198752-142199114	NONHSAT115300

No data

Variant related genes	Relation type
ENSG00000039523	chromatin interactions

Extended variants
information (count: 1857 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1857 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562080850	chr6:142195455-142195456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs529262788	chr6:142195474-142195475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs530754795	chr6:142195491-142195492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550760145	chr6:142195496-142195497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569896844	chr6:142195508-142195509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs148081380	chr6:142195528-142195529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552119914	chr6:142195563-142195564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs141821610	chr6:142195618-142195619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570965504	chr6:142195638-142195639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs189752576	chr6:142195646-142195647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552618444	chr6:142195717-142195718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs567729260	chr6:142195724-142195725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs377424762	chr6:142195745-142195746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535062836	chr6:142195765-142195766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs34164220	chr6:142195792-142195793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs397780111	chr6:142195799-142195800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556915631	chr6:142195834-142195835	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182098011	chr6:142195835-142195836	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs7767107	chr6:142195879-142195880	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs73779807	chr6:142195893-142195894	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs573440073	chr6:142195973-142195974	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs376510064	chr6:142195995-142195996	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs540738724	chr6:142196026-142196027	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs146066058	chr6:142196060-142196061	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs188071866	chr6:142196071-142196072	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs544318731	chr6:142196121-142196122	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs191344429	chr6:142196140-142196141	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs530739057	chr6:142196266-142196267	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs140051395	chr6:142196267-142196268	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs183585414	chr6:142196278-142196279	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs575822521	chr6:142196338-142196339	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs565450072	chr6:142196349-142196350	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs528233337	chr6:142196350-142196351	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs370483895	chr6:142196376-142196377	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs9373327	chr6:142196430-142196431	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs567862712	chr6:142196462-142196463	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs535526906	chr6:142196497-142196498	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs76624634	chr6:142196502-142196503	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs568814039	chr6:142196539-142196540	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs143705234	chr6:142196586-142196587	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs558451356	chr6:142196625-142196626	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs557892396	chr6:142196626-142196627	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs573476908	chr6:142196627-142196628	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs367761828	chr6:142196658-142196659	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs17071175	chr6:142196751-142196752	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs146239748	chr6:142196768-142196769	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs139352458	chr6:142196785-142196786	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs544668612	chr6:142196788-142196789	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs10499228	chr6:142196797-142196798	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs545541724	chr6:142196832-142196833	Enhancers	n/a	n/a	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
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	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
Acute lymphoblastic leukemia	21339820	CNVD
Burkitt''s lymphoma	19759907	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142195400-142196200	Enhancers	Adipose Nuclei	Adipose
2	chr6:142195600-142195800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:142195600-142196000	Enhancers	Liver	Liver
4	chr6:142195800-142196000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:142195800-142196600	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr6:142195800-142196800	Enhancers	Dnd41	blood
7	chr6:142196000-142196400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr6:142196000-142196600	Flanking Active TSS	Liver	Liver
9	chr6:142196200-142196600	Active TSS	Adipose Nuclei	Adipose
10	chr6:142196200-142196800	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr6:142196400-142196600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr6:142196600-142196800	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr6:142196600-142197600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr6:142196600-142198800	Enhancers	Liver	Liver
15	chr6:142196800-142199000	Enhancers	Adipose Nuclei	Adipose
16	chr6:142197600-142198600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr6:142198200-142199200	Enhancers	HepG2	liver
18	chr6:142198600-142200200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr6:142198800-142200200	Flanking Active TSS	Liver	Liver
20	chr6:142200200-142200600	Enhancers	Liver	Liver
21	chr6:142205600-142206400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
22	chr6:142206400-142207600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr6:142207400-142208800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr6:142207600-142207800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
25	chr6:142207800-142211400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr6:142208400-142209000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr6:142208600-142209000	ZNF genes & repeats	Liver	Liver
28	chr6:142208800-142209000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr6:142208800-142209000	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr6:142209000-142211400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr6:142209000-142212000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr6:142209000-142215000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr6:142211400-142212200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr6:142211400-142212400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
35	chr6:142211600-142212200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr6:142211800-142212200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
37	chr6:142212000-142212200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr6:142212000-142212200	ZNF genes & repeats	Gastric	stomach
39	chr6:142215000-142215200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr6:142215000-142215600	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr6:142220600-142221000	Enhancers	Rectal Smooth Muscle	rectum
42	chr6:142229600-142229800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr6:142229600-142230000	Active TSS	Liver	Liver
44	chr6:142229800-142230800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr6:142230000-142230800	Weak transcription	Liver	Liver
46	chr6:142230800-142231000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr6:142230800-142231200	Enhancers	Liver	Liver
48	chr6:142231000-142246200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr6:142237600-142238000	Active TSS	K562	blood
50	chr6:142244000-142244400	Weak transcription	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links