Variant report

Variant	nsv481982
Chromosome Location	chr6:162476843-162685242
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:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:162666890..162668464-chr6:162670216..162671922,2	K562	blood:
2	chr6:162470841..162473078-chr6:162475586..162477804,2	MCF-7	breast:
3	chr6:162552000..162556573-chr6:162556763..162561114,5	K562	blood:
4	chr6:162574333..162576032-chr6:162578404..162580150,2	K562	blood:
5	chr6:162661286..162663139-chr6:162673530..162675376,2	K562	blood:
6	chr6:162643217..162645721-chr6:162646719..162648950,2	K562	blood:
7	chr6:162671180..162673472-chr6:162808694..162811227,2	K562	blood:
8	chr6:162525404..162526979-chr6:162529518..162531928,2	MCF-7	breast:
9	chr6:162613600..162615384-chr6:162617227..162618872,2	K562	blood:
10	chr6:162661286..162663139-chr6:162673530..162675376,2	K562	blood:
11	chr6:162620407..162622935-chr6:162623040..162625617,2	K562	blood:
12	chr6:162613600..162615384-chr6:162617227..162618872,2	K562	blood:
13	chr6:162552000..162556573-chr6:162556763..162561114,5	K562	blood:
14	chr6:162643217..162645721-chr6:162646719..162648950,2	K562	blood:
15	chr6:162525404..162526979-chr6:162529518..162531928,2	MCF-7	breast:
16	chr6:162500411..162502828-chr6:162504694..162507642,2	K562	blood:
17	chr6:162666890..162668464-chr6:162670216..162671922,2	K562	blood:
18	chr3:66689243..66689865-chr6:162514238..162514739,2	MCF-7	breast:
19	chr6:162553757..162556831-chr6:162558713..162560436,3	K562	blood:
20	chr6:162436271..162438282-chr6:162512437..162514970,2	K562	blood:
21	chr6:162553757..162556831-chr6:162558713..162560436,3	K562	blood:
22	chr6:162500411..162502828-chr6:162504694..162507642,2	K562	blood:
23	chr6:162620407..162622935-chr6:162623040..162625617,2	K562	blood:
24	chr6:162574333..162576032-chr6:162578404..162580150,2	K562	blood:
25	chr6:162258059..162258779-chr6:162552660..162553528,2	MCF-7	breast:

No data

Extended variants
information (count: 8145 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:8145 , 50 per page) page: 1 2 3 4 5 6 7 ... 163

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141328568	chr6:162476846-162476847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559878180	chr6:162476869-162476870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550877135	chr6:162476884-162476885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371013779	chr6:162476903-162476904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372565736	chr6:162476911-162476912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567810058	chr6:162476954-162476955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536466445	chr6:162476976-162476977	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145104589	chr6:162476995-162476996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138789741	chr6:162477022-162477023	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs141861926	chr6:162477029-162477030	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs62436039	chr6:162477033-162477034	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs62436040	chr6:162477037-162477038	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs74737575	chr6:162477041-162477042	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs573208700	chr6:162477054-162477055	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs370736196	chr6:162477068-162477069	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs202219383	chr6:162477069-162477070	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs538236817	chr6:162477095-162477096	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs146901856	chr6:162477100-162477101	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs561985815	chr6:162477113-162477114	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs114302939	chr6:162477115-162477116	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs374915056	chr6:162477122-162477123	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs544261415	chr6:162477159-162477160	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs545729061	chr6:162477160-162477161	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs140706721	chr6:162477163-162477164	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs200430715	chr6:162477176-162477177	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs115174830	chr6:162477182-162477183	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs540064641	chr6:162477187-162477188	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs370564932	chr6:162477194-162477195	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs550154798	chr6:162477236-162477237	Enhancers ZNF genes & repeats Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190746027	chr6:162477245-162477246	Enhancers ZNF genes & repeats Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs78129045	chr6:162477264-162477265	Enhancers ZNF genes & repeats Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs532498600	chr6:162477321-162477322	Enhancers ZNF genes & repeats Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs370856145	chr6:162477340-162477341	Enhancers ZNF genes & repeats Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs183106589	chr6:162477341-162477342	Enhancers ZNF genes & repeats Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs187398518	chr6:162477349-162477350	Enhancers ZNF genes & repeats Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs376103058	chr6:162477350-162477351	Enhancers ZNF genes & repeats Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs551023780	chr6:162477357-162477358	Enhancers ZNF genes & repeats Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs529373168	chr6:162477402-162477403	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs567656347	chr6:162477424-162477425	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs368665071	chr6:162477425-162477426	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs116524674	chr6:162477446-162477447	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs546829385	chr6:162477480-162477481	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs547897079	chr6:162477496-162477497	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs374342415	chr6:162477506-162477507	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs192322804	chr6:162477507-162477508	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs538974834	chr6:162477541-162477542	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs558115447	chr6:162477553-162477554	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs558888042	chr6:162477562-162477563	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs115971710	chr6:162477564-162477565	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs138124468	chr6:162477627-162477628	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
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
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
Gastric cancer	17908304	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
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	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
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Atherosclerosis	21956041	CNVD
Maculopathy	20981449	CNVD
Retinoblastoma	22278416	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Uveal melanoma	20484589	CNVD
Glioblastoma multiforme	19435819	CNVD
Astrocytoma	16205629	CNVD
Parkinson disease	17160897	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	20838587	CNVD
Early-onset parkinson disease	21993715	CNVD
Glioblastoma	18772890	CNVD
Pancreatic cancer	20981101	CNVD
Autism	21360662	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Intellectual disability	22102821	CNVD
Parkinson disease	0	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21720365	CNVD
Parkinson disease	21829596	CNVD
Schizophrenia	23813976	CNVD
Gastric cancer	22315472	CNVD
Autism	19404257	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	21346763	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD

Chromatin state (count:653 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162470200-162479400	Weak transcription	Ovary	ovary
2	chr6:162474000-162478000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:162474400-162479600	Weak transcription	Left Ventricle	heart
4	chr6:162475200-162478200	Weak transcription	Liver	Liver
5	chr6:162476200-162477400	Enhancers	A549	lung
6	chr6:162476400-162477600	Enhancers	Right Atrium	heart
7	chr6:162476400-162478200	Enhancers	Pancreas	Pancrea
8	chr6:162476600-162477000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr6:162476600-162478200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:162476800-162477000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr6:162476800-162477400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr6:162476800-162477400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr6:162476800-162478200	Enhancers	Right Ventricle	heart
14	chr6:162476800-162478600	Enhancers	Fetal Heart	heart
15	chr6:162477000-162477200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr6:162477000-162477200	Bivalent Enhancer	HepG2	liver
17	chr6:162477000-162477400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
18	chr6:162477000-162477400	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr6:162477000-162478200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr6:162477200-162477600	Enhancers	HepG2	liver
21	chr6:162477200-162477800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr6:162477200-162478200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:162477200-162478800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:162477400-162477600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr6:162477400-162477800	Enhancers	Placenta Amnion	Placenta Amnion
26	chr6:162477400-162478200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr6:162477400-162478200	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr6:162477400-162478200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr6:162477400-162478800	Flanking Active TSS	A549	lung
30	chr6:162477600-162478000	Enhancers	H1 Cell Line	embryonic stem cell
31	chr6:162477600-162478000	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr6:162477600-162478000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr6:162477600-162478400	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr6:162477600-162478400	Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr6:162477600-162478400	Flanking Active TSS	HepG2	liver
36	chr6:162477600-162478400	Enhancers	NHDF-Ad	bronchial
37	chr6:162477600-162478600	Enhancers	NH-A	brain
38	chr6:162477600-162479000	Weak transcription	Right Atrium	heart
39	chr6:162477800-162478000	Enhancers	Psoas Muscle	Psoas
40	chr6:162477800-162478200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr6:162477800-162478200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr6:162477800-162478200	Enhancers	Fetal Stomach	stomach
43	chr6:162477800-162478400	Enhancers	Muscle Satellite Cultured Cells	--
44	chr6:162477800-162478400	Active TSS	Stomach Smooth Muscle	stomach
45	chr6:162477800-162478600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr6:162477800-162478600	Enhancers	HSMM	muscle
47	chr6:162478000-162478400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr6:162478000-162478400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr6:162478000-162482600	Weak transcription	Psoas Muscle	Psoas
50	chr6:162478200-162478400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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