Variant report

Variant	nsv462642
Chromosome Location	chr6:16019115-16056026
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:55)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:55 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr6:15210217..15211794-chr6:16040565..16043536,2	K562	blood:
2	chr6:16022951..16024907-chr6:16026876..16029109,2	K562	blood:
3	chr6:16017796..16020591-chr6:16022646..16024386,2	K562	blood:
4	chr6:16039348..16041911-chr6:16130425..16132718,2	K562	blood:
5	chr6:16006719..16008758-chr6:16026173..16028260,2	K562	blood:
6	chr6:15861211..15863837-chr6:16050426..16052847,2	K562	blood:
7	chr6:16037014..16038749-chr6:16128939..16131050,2	K562	blood:
8	chr6:16050776..16053806-chr6:16055148..16058947,6	K562	blood:
9	chr6:16022259..16024399-chr6:16024466..16026204,2	K562	blood:
10	chr6:16029418..16031902-chr6:16125267..16127346,2	K562	blood:
11	chr6:16036597..16039576-chr6:16041237..16043600,3	K562	blood:
12	chr6:16023769..16025512-chr6:16123215..16124977,2	K562	blood:
13	chr6:16022979..16024566-chr6:16026759..16029167,2	K562	blood:
14	chr6:16036597..16039576-chr6:16041237..16043600,3	K562	blood:
15	chr6:16017796..16020591-chr6:16022646..16024386,2	K562	blood:
16	chr6:16052457..16054223-chr6:16060648..16063493,2	K562	blood:
17	chr6:16050772..16053552-chr6:16128106..16131224,3	K562	blood:
18	chr6:16022979..16024566-chr6:16026759..16029167,2	K562	blood:
19	chr6:16031294..16033110-chr6:16127480..16129876,2	K562	blood:
20	chr6:16050776..16053806-chr6:16055148..16058947,6	K562	blood:
21	chr6:16007519..16009817-chr6:16018541..16020792,3	K562	blood:
22	chr6:16023913..16025529-chr6:16030145..16031835,2	K562	blood:
23	chr6:16031540..16033929-chr6:16034030..16038296,6	K562	blood:
24	chr6:16026358..16029621-chr6:16030628..16033176,4	K562	blood:
25	chr6:16031540..16033929-chr6:16034030..16038296,6	K562	blood:
26	chr6:16041790..16045319-chr6:16127001..16129642,4	K562	blood:
27	chr6:16025414..16029753-chr6:16128326..16131015,4	K562	blood:
28	chr6:16022951..16024907-chr6:16026876..16029109,2	K562	blood:
29	chr6:16022259..16024399-chr6:16024466..16026204,2	K562	blood:
30	chr6:16052571..16055224-chr6:16057956..16060128,2	MCF-7	breast:
31	chr6:16028364..16031125-chr6:16128976..16131104,2	MCF-7	breast:
32	chr6:16042797..16045111-chr6:16140994..16143174,2	K562	blood:
33	chr6:16026358..16029621-chr6:16030628..16033176,4	K562	blood:
34	chr6:16041208..16045592-chr6:16048411..16051346,3	K562	blood:
35	chr6:16029934..16037456-chr6:16127921..16130807,9	K562	blood:
36	chr6:16026358..16028275-chr6:16129311..16130971,2	K562	blood:
37	chr6:16051800..16056150-chr6:16128493..16131846,4	K562	blood:
38	chr6:16020382..16022271-chr6:16026878..16029319,2	K562	blood:
39	chr6:15792187..15794246-chr6:16049902..16052089,2	K562	blood:
40	chr6:16023913..16025529-chr6:16030145..16031835,2	K562	blood:
41	chr6:16020382..16022271-chr6:16026878..16029319,2	K562	blood:
42	chr6:16053561..16056150-chr6:16129358..16130868,2	K562	blood:
43	chr6:15691382..15692187-chr6:16036682..16037471,3	MCF-7	breast:
44	chr6:16019115..16021278-chr6:16129144..16131501,2	K562	blood:
45	chr6:16047903..16049841-chr6:16214901..16217178,2	K562	blood:
46	chr6:15697857..15699700-chr6:16052665..16055384,2	K562	blood:
47	chr6:15978060..15979928-chr6:16047865..16050102,2	MCF-7	breast:
48	chr6:16028976..16031138-chr6:16229314..16231968,2	K562	blood:
49	chr6:16045978..16050350-chr6:16127996..16131349,5	K562	blood:
50	chr6:15894595..15896880-chr6:16047556..16049298,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000263712	chromatin interactions
ENSG00000007944	chromatin interactions

Extended variants
information (count: 1441 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:1441 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6921953	chr6:16019115-16019116	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs559144521	chr6:16019117-16019118	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs374281751	chr6:16019118-16019119	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs528252545	chr6:16019130-16019131	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs541549343	chr6:16019144-16019145	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs561216537	chr6:16019153-16019154	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs530157060	chr6:16019162-16019163	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs6938544	chr6:16019193-16019194	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs6917626	chr6:16019212-16019213	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs532874648	chr6:16019228-16019229	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs150830234	chr6:16019267-16019268	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs191969439	chr6:16019315-16019316	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs111254241	chr6:16019329-16019330	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs374592123	chr6:16019345-16019346	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs367796105	chr6:16019376-16019377	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs548304364	chr6:16019398-16019399	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs16877434	chr6:16019454-16019455	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs537102870	chr6:16019455-16019456	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs16877436	chr6:16019471-16019472	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs576393866	chr6:16019480-16019481	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs547037795	chr6:16019493-16019494	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs552834473	chr6:16019508-16019509	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs573034368	chr6:16019512-16019513	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs182830781	chr6:16019567-16019568	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs139234604	chr6:16019652-16019653	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs574849255	chr6:16019657-16019658	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs114129773	chr6:16019663-16019664	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs532526320	chr6:16019726-16019727	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs552936047	chr6:16019785-16019786	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs149642410	chr6:16019796-16019797	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs556206894	chr6:16019813-16019814	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs187184641	chr6:16019818-16019819	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs147312777	chr6:16019860-16019861	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs374655157	chr6:16019866-16019867	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs141016148	chr6:16019960-16019961	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs536762296	chr6:16019961-16019962	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs550239849	chr6:16019971-16019972	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs570148904	chr6:16020020-16020021	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs539038230	chr6:16020026-16020027	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs552896582	chr6:16020051-16020052	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs573059488	chr6:16020092-16020093	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs535702979	chr6:16020105-16020106	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs555290522	chr6:16020120-16020121	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs533691562	chr6:16020135-16020136	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs571580008	chr6:16020178-16020179	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs575371041	chr6:16020185-16020186	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs538654359	chr6:16020208-16020209	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs543959045	chr6:16020257-16020258	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs563753986	chr6:16020318-16020319	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs577349696	chr6:16020329-16020330	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:109)

Disease	PMID	Source
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
small cell lung cancer	20016488	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bladder cancer	21909424	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
abnormal development	18461090	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	16790693	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17142309	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Ovarian cancer	20844748	CNVD
Developmental delay	19490664	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:16018000-16026600	Weak transcription	Pancreas	Pancrea
2	chr6:16019200-16019800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:16019600-16020000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:16019600-16020000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:16019800-16020000	Enhancers	Gastric	stomach
6	chr6:16019800-16020600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:16019800-16020800	Enhancers	K562	blood
8	chr6:16020600-16020800	Enhancers	Gastric	stomach
9	chr6:16020800-16029400	Weak transcription	K562	blood
10	chr6:16026600-16026800	Enhancers	Pancreas	Pancrea
11	chr6:16029400-16030800	Genic enhancers	K562	blood
12	chr6:16030800-16032000	Flanking Active TSS	K562	blood
13	chr6:16031200-16031600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr6:16031200-16031800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr6:16031400-16031800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr6:16031800-16032000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:16031800-16033000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr6:16032000-16032400	Enhancers	K562	blood
19	chr6:16032000-16032800	ZNF genes & repeats	GM12878-XiMat	blood
20	chr6:16032400-16032600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr6:16032400-16032600	Flanking Active TSS	K562	blood
22	chr6:16032600-16033000	Genic enhancers	K562	blood
23	chr6:16032800-16034000	Enhancers	Primary hematopoietic stem cells	blood
24	chr6:16033000-16033200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr6:16033000-16034200	Enhancers	K562	blood
26	chr6:16033200-16033600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr6:16033600-16037000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr6:16034200-16034600	Weak transcription	K562	blood
29	chr6:16035000-16035400	Weak transcription	K562	blood
30	chr6:16035400-16037600	Enhancers	K562	blood
31	chr6:16037000-16037400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr6:16037000-16037800	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr6:16037600-16038800	Weak transcription	K562	blood
34	chr6:16038800-16039400	ZNF genes & repeats	K562	blood
35	chr6:16039000-16039800	Enhancers	GM12878-XiMat	blood
36	chr6:16040400-16041000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr6:16040600-16041000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
38	chr6:16040600-16041000	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr6:16040600-16041200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr6:16040600-16041400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
41	chr6:16040800-16041000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr6:16041000-16043400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr6:16041200-16041400	Enhancers	GM12878-XiMat	blood
44	chr6:16041400-16042200	Flanking Active TSS	GM12878-XiMat	blood
45	chr6:16042200-16042600	ZNF genes & repeats	K562	blood
46	chr6:16042200-16043400	Enhancers	GM12878-XiMat	blood
47	chr6:16042600-16042800	Enhancers	Right Atrium	heart
48	chr6:16042600-16043200	Enhancers	K562	blood
49	chr6:16042800-16044000	Weak transcription	Right Atrium	heart
50	chr6:16043200-16043600	Flanking Active TSS	K562	blood

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