Variant report

Variant	nsv601479
Chromosome Location	chr6:30389258-30404786
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:30384989..30387983-chr6:30390745..30393003,2	K562	blood:
2	chr6:30380952..30384667-chr6:30386673..30389385,3	K562	blood:
3	chr6:30386050..30388643-chr6:30391720..30393576,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GNL1-2	chr6:30401765-30402164	l_3159_chr6:30370222-30402164_hela
2	lnc-GNL1-2	chr6:30390025-30390238	l_3159_chr6:30370222-30402164_hela

Variant related genes	Relation type
ENSG00000226577	chromatin interactions

Extended variants
information (count: 40 )
Associated
traits (count: 124 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9261895	chr6:30389323-30389324	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs75438091	chr6:30389347-30389348	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs117067495	chr6:30389353-30389354	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs551104446	chr6:30389357-30389358	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs76773980	chr6:30389371-30389372	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs375198816	chr6:30389372-30389373	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs571107955	chr6:30389378-30389379	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs190721943	chr6:30390053-30390054	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs112384230	chr6:30390067-30390068	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs371484434	chr6:30390069-30390070	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs534855059	chr6:30390097-30390098	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs372670394	chr6:30390100-30390101	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs577919279	chr6:30390106-30390107	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs537457413	chr6:30390119-30390120	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs181562130	chr6:30390179-30390180	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs9261899	chr6:30390180-30390181	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs542149826	chr6:30390210-30390211	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs150470737	chr6:30390222-30390223	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs563433629	chr6:30390228-30390229	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs536507421	chr6:30401773-30401774	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs553709226	chr6:30401790-30401791	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs573444114	chr6:30401819-30401820	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs545636011	chr6:30401830-30401831	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs559080851	chr6:30401837-30401838	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs9468737	chr6:30401881-30401882	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs144213812	chr6:30401921-30401922	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs561167399	chr6:30401936-30401937	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs530116179	chr6:30401941-30401942	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs9468738	chr6:30401986-30401987	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs9468739	chr6:30401987-30401988	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs532158665	chr6:30402046-30402047	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs532474711	chr6:30402081-30402082	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs551980222	chr6:30402083-30402084	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs568929458	chr6:30402087-30402088	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs531345352	chr6:30402120-30402121	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs9468740	chr6:30402130-30402131	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs567915069	chr6:30402136-30402137	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs188338007	chr6:30402154-30402155	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs547283414	chr6:30402156-30402157	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs9468741	chr6:30402163-30402164	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:124)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Systemic lupus erythematosus	19279649	CNVD
Acute myocardial infarction	18032375	CNVD
Renal cell carcinoma	19150565	CNVD
Systemic lupus erythematosus	19591781	CNVD
Attention deficit hyperactivity disorder	19287146	CNVD
Autism	19287146	CNVD
Erythema nodosum in leprosy	19287146	CNVD
Henoch-schoenlein purpura	19287146	CNVD
Liver cirrhosis	19287146	CNVD
Systemic lupus erythematosus	19287146	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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