Variant report

Variant	nsv886001
Chromosome Location	chr6:65008524-65081343
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:65006449..65008476-chr6:65012080..65014134,2	K562	blood:
2	chr6:64722104..64722842-chr6:65040545..65041404,3	MCF-7	breast:
3	chr6:65070131..65072480-chr6:65075607..65077474,2	MCF-7	breast:
4	chr6:65070131..65072480-chr6:65075607..65077474,2	MCF-7	breast:

Extended variants
information (count: 381 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:381 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146095228	chr6:65008804-65008805	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs536741694	chr6:65009100-65009101	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs554702027	chr6:65009160-65009161	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs7774242	chr6:65009165-65009166	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs6454778	chr6:65009199-65009200	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs576636357	chr6:65009201-65009202	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs540780835	chr6:65009234-65009235	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs553126764	chr6:65009235-65009236	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs377382775	chr6:65009280-65009281	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs371950285	chr6:65009329-65009330	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs574486090	chr6:65009371-65009372	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs186420559	chr6:65009381-65009382	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs79564246	chr6:65009382-65009383	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs530493570	chr6:65009404-65009405	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs544139414	chr6:65009405-65009406	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs202068045	chr6:65009406-65009407	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs552804365	chr6:65009421-65009422	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs190919116	chr6:65009447-65009448	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs566247994	chr6:65009464-65009465	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs577501275	chr6:65009489-65009490	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs201148377	chr6:65009490-65009491	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs141981051	chr6:65009492-65009493	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs150833232	chr6:65009547-65009548	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs569963944	chr6:65009548-65009549	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs115958634	chr6:65009596-65009597	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs375683489	chr6:65009622-65009623	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs558431469	chr6:65009715-65009716	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs115496317	chr6:65009723-65009724	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs560347226	chr6:65009732-65009733	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs370053158	chr6:65009746-65009747	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs528148603	chr6:65009764-65009765	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs111236610	chr6:65009773-65009774	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs373503804	chr6:65009851-65009852	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs546294365	chr6:65009853-65009854	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs574551022	chr6:65009860-65009861	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs6454779	chr6:65009861-65009862	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs113845274	chr6:65009877-65009878	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs6901090	chr6:65009888-65009889	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs6929195	chr6:65009896-65009897	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs564064395	chr6:65009898-65009899	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs6929201	chr6:65009900-65009901	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs192834415	chr6:65009950-65009951	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs183403068	chr6:65009957-65009958	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs36092336	chr6:65009978-65009979	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs530278130	chr6:65009991-65009992	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs548402409	chr6:65009992-65009993	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs6454780	chr6:65009995-65009996	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs562817006	chr6:65010004-65010005	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs530909396	chr6:65010008-65010009	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs552190330	chr6:65010017-65010018	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
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
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	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	21364760	CNVD
Cancer	20164920	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Epilepsy	20502679	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:65008800-65009200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
2	chr6:65009200-65014600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:65010000-65013400	Enhancers	Fetal Intestine Large	intestine
4	chr6:65010400-65011800	Enhancers	Fetal Intestine Small	intestine
5	chr6:65010800-65012400	Enhancers	HepG2	liver
6	chr6:65011200-65011800	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr6:65012400-65013800	Weak transcription	HepG2	liver
8	chr6:65013800-65014400	Enhancers	HepG2	liver
9	chr6:65032400-65032800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr6:65036600-65037000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr6:65040400-65040800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr6:65040400-65040800	Enhancers	Liver	Liver
13	chr6:65066600-65067000	Enhancers	Adipose Nuclei	Adipose
14	chr6:65067000-65067400	Weak transcription	Adipose Nuclei	Adipose
15	chr6:65067400-65068000	Enhancers	Adipose Nuclei	Adipose

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