Variant report

Variant	nsv538264
Chromosome Location	chr6:62309636-62376819
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:2)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:62338455..62341416-chr6:62349346..62350925,2	K562	blood:
2	chr6:62338455..62341416-chr6:62349346..62350925,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KHDRBS2-1	chr6:62362160-62362222	XLOC_005755
2	lnc-KHDRBS2-1	chr6:62369021-62369055	NONHSAT113330
3	lnc-KHDRBS2-1	chr6:62340207-62340406	XLOC_005755
4	lnc-KHDRBS2-1	chr6:62340206-62340406	NONHSAT113330
5	lnc-KHDRBS2-1	chr6:62371186-62371274	NONHSAT113330
6	lnc-KHDRBS2-1	chr6:62369022-62369055	XLOC_005755
7	lnc-KHDRBS2-1	chr6:62362159-62362222	NONHSAT113330
8	lnc-KHDRBS2-1	chr6:62371187-62371274	XLOC_005755

No data

Extended variants
information (count: 1426 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:1426 , 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	rs534642811	chr6:62309677-62309678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548475463	chr6:62309717-62309718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373801373	chr6:62309718-62309719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183126688	chr6:62309738-62309739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs9350568	chr6:62309785-62309786	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs575263348	chr6:62309791-62309792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145951667	chr6:62309792-62309793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs77207757	chr6:62309809-62309810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs73484514	chr6:62309816-62309817	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs6932619	chr6:62309832-62309833	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs540973841	chr6:62309854-62309855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139812225	chr6:62309940-62309941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375545698	chr6:62309954-62309955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371005366	chr6:62309973-62309974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545825142	chr6:62309976-62309977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs80211211	chr6:62309977-62309978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544502406	chr6:62310083-62310084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563077941	chr6:62310109-62310110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533300141	chr6:62310139-62310140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551454650	chr6:62310156-62310157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs6941773	chr6:62310178-62310179	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs554354288	chr6:62310188-62310189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527685129	chr6:62310224-62310225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201336284	chr6:62310280-62310281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200163997	chr6:62310282-62310283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201091595	chr6:62310283-62310284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368249187	chr6:62310294-62310295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs114431050	chr6:62310326-62310327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186303464	chr6:62310344-62310345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550528825	chr6:62310351-62310352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190317581	chr6:62310400-62310401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539581559	chr6:62310450-62310451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139898094	chr6:62310451-62310452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563722038	chr6:62310466-62310467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs9447236	chr6:62310475-62310476	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs533786383	chr6:62310495-62310496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555315679	chr6:62310501-62310502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576895260	chr6:62310508-62310509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183848860	chr6:62310531-62310532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562982953	chr6:62310533-62310534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs578122709	chr6:62310544-62310545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs9447238	chr6:62310550-62310551	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs9447239	chr6:62310558-62310559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145800610	chr6:62310559-62310560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548985011	chr6:62310588-62310589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187954792	chr6:62310623-62310624	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs148594071	chr6:62310628-62310629	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs541611695	chr6:62310629-62310630	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs145649559	chr6:62310703-62310704	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs9447248	chr6:62310738-62310739	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
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
Endometrioid adenocarcinoma	16974079	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Lung cancer	19547694	CNVD
Myelofibrosis	22110671	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	21364760	CNVD
Schizophrenia	23813976	CNVD
Tetralogy of Fallot	22912587	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Acute lymphoblastic leukemia	18458336	CNVD

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:62302000-62310600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr6:62310600-62310800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
3	chr6:62311400-62311800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:62311800-62312200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:62312200-62312600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:62312600-62315200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:62313800-62314000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
8	chr6:62314000-62316000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr6:62315000-62316000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr6:62315200-62315400	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr6:62315200-62315400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:62315200-62316000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr6:62315400-62315800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr6:62315400-62315800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr6:62315400-62316200	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr6:62315800-62316000	Enhancers	H9 Cell Line	embryonic stem cell
17	chr6:62315800-62316000	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr6:62315800-62316000	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr6:62315800-62316400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr6:62316000-62316200	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr6:62316000-62316400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
22	chr6:62316000-62316400	Flanking Active TSS	H9 Cell Line	embryonic stem cell
23	chr6:62316000-62316400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr6:62316000-62316400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr6:62316000-62316600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr6:62316000-62316800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr6:62316000-62317000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr6:62316200-62316400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr6:62316200-62316600	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr6:62316200-62316800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr6:62316200-62316800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr6:62316400-62317000	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr6:62316400-62317200	Enhancers	H1 Cell Line	embryonic stem cell
34	chr6:62316400-62317400	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr6:62316600-62318000	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr6:62316800-62317000	Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr6:62316800-62317200	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr6:62317200-62320800	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr6:62334800-62335600	Active TSS	Spleen	Spleen
40	chr6:62344200-62344800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr6:62344800-62350200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr6:62350200-62351400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr6:62350400-62350800	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr6:62350600-62351200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr6:62357800-62360400	Weak transcription	Fetal Brain Female	brain
46	chr6:62359000-62359800	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr6:62359000-62360200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr6:62359000-62360200	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr6:62359600-62360000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr6:62359800-62360200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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