Variant report

Variant	nsv526251
Chromosome Location	chr6:30366100-30368012
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:30365835..30367993-chr6:30369387..30370931,2	K562	blood:
2	chr6:30364759..30366950-chr6:30511934..30514120,2	K562	blood:
3	chr6:30311806..30314300-chr6:30365522..30367404,2	MCF-7	breast:
4	chr6:30325083..30325836-chr6:30364496..30366117,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000241370	chromatin interactions

Extended variants
information (count: 72 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1264567	chr6:30366100-30366101	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs12192526	chr6:30366111-30366112	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs12205877	chr6:30366143-30366144	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs386698737	chr6:30366159-30366160	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs561293206	chr6:30366160-30366161	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs554170737	chr6:30366164-30366165	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs531868588	chr6:30366171-30366172	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs571598226	chr6:30366172-30366173	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs200294008	chr6:30366174-30366175	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs573759395	chr6:30366175-30366176	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs576142733	chr6:30366245-30366246	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs541978479	chr6:30366252-30366253	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs561546658	chr6:30366267-30366268	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs187270158	chr6:30366292-30366293	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs547130669	chr6:30366296-30366297	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs12205979	chr6:30366301-30366302	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs532967973	chr6:30366302-30366303	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs552576698	chr6:30366328-30366329	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs190736085	chr6:30366333-30366334	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs538180921	chr6:30366380-30366381	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs76820514	chr6:30366411-30366412	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs372909142	chr6:30366433-30366434	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs145916955	chr6:30366450-30366451	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs534281487	chr6:30366488-30366489	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs181564201	chr6:30366495-30366496	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs185859693	chr6:30366496-30366497	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs374760804	chr6:30366538-30366539	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs190260396	chr6:30366563-30366564	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs3131113	chr6:30366642-30366643	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs556299173	chr6:30366643-30366644	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs182917809	chr6:30366725-30366726	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs541766946	chr6:30366757-30366758	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs555132911	chr6:30366765-30366766	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs571953715	chr6:30366846-30366847	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs187978101	chr6:30366848-30366849	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs540700723	chr6:30366904-30366905	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs7751647	chr6:30366910-30366911	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs532898592	chr6:30366933-30366934	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs537309530	chr6:30366983-30366984	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs563143250	chr6:30367012-30367013	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs1362118	chr6:30367013-30367014	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs539133283	chr6:30367061-30367062	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs373373729	chr6:30367075-30367076	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs190866702	chr6:30367081-30367082	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs547897316	chr6:30367096-30367097	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs570891142	chr6:30367112-30367113	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs556917142	chr6:30367126-30367127	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs575191417	chr6:30367127-30367128	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs1362117	chr6:30367182-30367183	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs28633672	chr6:30367194-30367195	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:109)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	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
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Schizophrenia	19571809	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Breast cancer	21364760	CNVD
Lung cancer	21569311	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30367200-30367600	Enhancers	NHEK	skin

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