Variant report

Variant	nsv603316
Chromosome Location	chr6:62600980-62927514
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:62852057..62854070-chr6:62855241..62858140,2	MCF-7	breast:
2	chr3:113873972..113874534-chr6:62859704..62860673,2	MCF-7	breast:
3	chr6:62761124..62761875-chrX:154244873..154245663,2	MCF-7	breast:
4	chr6:62776601..62778161-chr6:62783168..62785146,2	K562	blood:
5	chr6:62621722..62623294-chr6:62626600..62628744,2	MCF-7	breast:
6	chr6:62776601..62778161-chr6:62783168..62785146,2	K562	blood:
7	chr6:62519001..62519629-chr6:62859955..62860555,3	MCF-7	breast:
8	chr6:57445367..57446031-chr6:62860058..62860574,2	MCF-7	breast:
9	chr6:62621722..62623294-chr6:62626600..62628744,2	MCF-7	breast:
10	chr6:57766644..57767228-chr6:62859661..62860581,2	MCF-7	breast:
11	chr6:62852057..62854070-chr6:62855241..62858140,2	MCF-7	breast:

No data

Extended variants
information (count: 12057 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:12057 , 50 per page) page: 1 2 3 4 5 6 7 ... 242

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372162904	chr6:62601037-62601038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs532712969	chr6:62601038-62601039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs60880752	chr6:62601075-62601076	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs566238683	chr6:62601095-62601096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544878176	chr6:62601176-62601177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546065034	chr6:62601186-62601187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552735265	chr6:62601200-62601201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139758444	chr6:62601206-62601207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569722362	chr6:62601207-62601208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564853947	chr6:62601222-62601223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142838415	chr6:62601247-62601248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536667016	chr6:62601266-62601267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558181046	chr6:62601297-62601298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576536827	chr6:62601320-62601321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534507890	chr6:62601321-62601322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs377197594	chr6:62601335-62601336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574631307	chr6:62601347-62601348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542076265	chr6:62601392-62601393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181243876	chr6:62601393-62601394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112742435	chr6:62601434-62601435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576459427	chr6:62601472-62601473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs6455053	chr6:62601474-62601475	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs565371288	chr6:62601491-62601492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532684382	chr6:62601528-62601529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139806902	chr6:62601545-62601546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149804650	chr6:62601546-62601547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530244276	chr6:62601566-62601567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548836205	chr6:62601614-62601615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570016484	chr6:62601629-62601630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555120681	chr6:62601643-62601644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536606908	chr6:62601645-62601646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551794739	chr6:62601646-62601647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570192157	chr6:62601647-62601648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534751602	chr6:62601664-62601665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552809101	chr6:62601684-62601685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374388352	chr6:62601710-62601711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535296145	chr6:62601754-62601755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs367564262	chr6:62601773-62601774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557255095	chr6:62601808-62601809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575653123	chr6:62601952-62601953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543837300	chr6:62601996-62601997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372794634	chr6:62601999-62602000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368064100	chr6:62602016-62602017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577249422	chr6:62602100-62602101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200395001	chr6:62602122-62602123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559611703	chr6:62602134-62602135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530267497	chr6:62602139-62602140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548382722	chr6:62602186-62602187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147894643	chr6:62602196-62602197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531154373	chr6:62602220-62602221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Pancreatic cancer	17952125	CNVD
Autism	19492091	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:357 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:62575400-62667600	Weak transcription	Primary B cells from cord blood	blood
2	chr6:62596000-62612600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr6:62596600-62611600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr6:62597600-62606600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:62602400-62605400	Weak transcription	Primary B cells from peripheral blood	blood
6	chr6:62603200-62616200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr6:62606600-62606800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:62619800-62620000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr6:62622200-62622600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr6:62622400-62622800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:62622800-62627000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:62636200-62636400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr6:62636400-62636800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr6:62636400-62644600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr6:62644600-62646200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr6:62644800-62645600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr6:62644800-62645800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:62648200-62648600	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr6:62648400-62649000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr6:62649000-62650200	Weak transcription	Fetal Intestine Small	intestine
21	chr6:62650200-62651200	ZNF genes & repeats	Fetal Intestine Small	intestine
22	chr6:62650600-62651000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr6:62651200-62658000	Weak transcription	Fetal Intestine Small	intestine
24	chr6:62657400-62658000	Enhancers	Fetal Brain Male	brain
25	chr6:62658000-62658200	Enhancers	Fetal Intestine Small	intestine
26	chr6:62658000-62660200	Weak transcription	Fetal Brain Male	brain
27	chr6:62658200-62658600	Weak transcription	Fetal Intestine Small	intestine
28	chr6:62658600-62660200	Enhancers	Fetal Intestine Small	intestine
29	chr6:62658800-62659200	Enhancers	Fetal Intestine Large	intestine
30	chr6:62659200-62661000	Weak transcription	Fetal Intestine Large	intestine
31	chr6:62660200-62660800	Enhancers	Fetal Brain Male	brain
32	chr6:62660200-62661400	Weak transcription	Fetal Intestine Small	intestine
33	chr6:62660800-62663200	Weak transcription	Fetal Brain Male	brain
34	chr6:62661000-62661800	Enhancers	Fetal Intestine Large	intestine
35	chr6:62661400-62662600	Enhancers	Fetal Intestine Small	intestine
36	chr6:62661600-62662600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:62661600-62662800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr6:62661800-62662200	Weak transcription	Fetal Intestine Large	intestine
39	chr6:62662200-62662400	Enhancers	Fetal Intestine Large	intestine
40	chr6:62662400-62663200	Weak transcription	Fetal Intestine Large	intestine
41	chr6:62662600-62663600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr6:62662600-62663600	Weak transcription	Fetal Intestine Small	intestine
43	chr6:62662800-62663200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr6:62663200-62664200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr6:62663200-62664200	Enhancers	Fetal Intestine Large	intestine
46	chr6:62663200-62664400	Enhancers	Fetal Brain Male	brain
47	chr6:62663600-62664000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr6:62663600-62664200	Enhancers	Fetal Intestine Small	intestine
49	chr6:62663800-62664200	Enhancers	Brain Substantia Nigra	brain
50	chr6:62664000-62668200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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