Variant report

Variant	nsv521859
Chromosome Location	chr6:106675819-106703618
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:106687715..106690914-chr6:106691161..106694111,3	K562	blood:
2	chr6:106695363..106697607-chr6:106707956..106710160,2	K562	blood:
3	chr6:106702821..106705726-chr6:106719179..106721244,2	K562	blood:
4	chr6:106687715..106690914-chr6:106691161..106694111,3	K562	blood:
5	chr6:106702583..106704653-chr6:106707003..106708997,2	K562	blood:
6	chr6:106689567..106692491-chr6:106708271..106710580,3	K562	blood:
7	chr6:106702743..106704638-chr6:106718970..106721930,2	MCF-7	breast:
8	chr6:106670839..106673074-chr6:106674446..106677171,2	K562	blood:

No data

Extended variants
information (count: 1041 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:1041 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1769972	chr6:106675819-106675820	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs35424197	chr6:106675900-106675901	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs551881539	chr6:106675931-106675932	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs386704570	chr6:106675993-106675994	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs1769971	chr6:106675995-106675996	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs536489662	chr6:106676001-106676002	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs560026641	chr6:106676080-106676081	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs148105988	chr6:106676081-106676082	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs552842236	chr6:106676094-106676095	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs579801	chr6:106676135-106676136	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs531993742	chr6:106676173-106676174	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs548622853	chr6:106676190-106676191	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs1769970	chr6:106676198-106676199	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs533972299	chr6:106676237-106676238	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs114218211	chr6:106676241-106676242	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs117009542	chr6:106676243-106676244	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs538439024	chr6:106676252-106676253	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs188737513	chr6:106676289-106676290	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs542233556	chr6:106676315-106676316	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs375750360	chr6:106676367-106676368	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs558291226	chr6:106676382-106676383	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs575100276	chr6:106676388-106676389	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs538118265	chr6:106676403-106676404	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs181458752	chr6:106676429-106676430	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs140942705	chr6:106676430-106676431	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs539877686	chr6:106676442-106676443	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs560182103	chr6:106676447-106676448	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs62422878	chr6:106676470-106676471	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs571635609	chr6:106676471-106676472	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs373605372	chr6:106676483-106676484	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs541136005	chr6:106676486-106676487	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs563042019	chr6:106676560-106676561	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs531956779	chr6:106676577-106676578	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs594819	chr6:106676602-106676603	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs562271967	chr6:106676632-106676633	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs527681879	chr6:106676633-106676634	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs547515611	chr6:106676643-106676644	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs570522809	chr6:106676760-106676761	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs533207513	chr6:106676786-106676787	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs549884741	chr6:106676792-106676793	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs554961848	chr6:106676826-106676827	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs568679994	chr6:106676857-106676858	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs71572294	chr6:106676862-106676863	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs537681523	chr6:106676892-106676893	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs554828527	chr6:106676898-106676899	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs377420577	chr6:106676914-106676915	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs568311920	chr6:106676955-106676956	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs534101655	chr6:106676956-106676957	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs184536273	chr6:106676988-106676989	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs190364895	chr6:106677005-106677006	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:113)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	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
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	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
Burkitt''s lymphoma	20823134	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
Acute lymphoblastic leukemia	21098271	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Basal cell lymphoma	17170743	CNVD
Prostate cancer	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Developmental delay	21147756	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Autism	17483303	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
abnormal development	18461090	CNVD
Systemic lupus erythematosus	19220326	CNVD
Cancer	17160897	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Acute lymphoblastic leukemia	17229543	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:541 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:106645800-106695400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr6:106647400-106695200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr6:106649200-106695200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr6:106649200-106695400	Weak transcription	HMEC	breast
5	chr6:106649400-106682400	Weak transcription	Primary T cells from cord blood	blood
6	chr6:106649600-106683000	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr6:106650000-106695200	Weak transcription	NHEK	skin
8	chr6:106650400-106682600	Weak transcription	Dnd41	blood
9	chr6:106657800-106683200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr6:106658200-106689000	Weak transcription	Primary B cells from peripheral blood	blood
11	chr6:106662400-106683000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr6:106663400-106683800	Weak transcription	NHDF-Ad	bronchial
13	chr6:106664800-106683000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr6:106664800-106693800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr6:106665400-106689600	Weak transcription	Aorta	Aorta
16	chr6:106665400-106695200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr6:106668200-106683200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr6:106671200-106690000	Weak transcription	GM12878-XiMat	blood
19	chr6:106671600-106677200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr6:106671600-106693800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:106671600-106724400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr6:106672600-106683200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr6:106673800-106691000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:106674000-106685200	Weak transcription	Liver	Liver
25	chr6:106674200-106677000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr6:106674200-106685200	Weak transcription	HepG2	liver
27	chr6:106674400-106676600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr6:106674600-106676800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr6:106674800-106676200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr6:106674800-106683200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr6:106674800-106689600	Weak transcription	HSMM	muscle
32	chr6:106675000-106677400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
33	chr6:106675000-106677400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr6:106675000-106695600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr6:106675200-106676000	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr6:106675200-106676200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr6:106675200-106682800	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr6:106675200-106683800	Weak transcription	A549	lung
39	chr6:106675400-106676000	Enhancers	Fetal Heart	heart
40	chr6:106675400-106676400	Enhancers	Duodenum Mucosa	Duodenum
41	chr6:106675400-106677600	Weak transcription	Left Ventricle	heart
42	chr6:106675400-106683200	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr6:106675400-106695600	Weak transcription	Fetal Intestine Large	intestine
44	chr6:106675400-106698800	Weak transcription	Pancreas	Pancrea
45	chr6:106675400-106705000	Weak transcription	K562	blood
46	chr6:106675600-106676200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr6:106675600-106696800	Weak transcription	Fetal Lung	lung
48	chr6:106675800-106676000	Weak transcription	Fetal Intestine Small	intestine
49	chr6:106675800-106676200	Active TSS	Rectal Mucosa Donor 29	rectum
50	chr6:106675800-106676800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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