Variant report

Variant	nsv970073
Chromosome Location	chr6:5039705-5042447
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:5041855..5045145-chr6:5046527..5050551,4	K562	blood:
2	chr6:5040002..5041588-chr6:5045045..5047695,2	K562	blood:
3	chr6:5041855..5045145-chr6:5046527..5048864,3	K562	blood:
4	chr6:5034722..5036344-chr6:5039366..5041126,2	K562	blood:
5	chr6:5039816..5042326-chr6:5046841..5049274,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PPP1R3G-2	chr6:5040915-5040921	XLOC_005143

Variant related genes	Relation type
ENSG00000252419	chromatin interactions

Extended variants
information (count: 114 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547269085	chr6:5039726-5039727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs568656278	chr6:5039746-5039747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs62385159	chr6:5039787-5039788	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs541119147	chr6:5039793-5039794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372541946	chr6:5039833-5039834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569663733	chr6:5039842-5039843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536723075	chr6:5039854-5039855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2793254	chr6:5039861-5039862	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs369967735	chr6:5039891-5039892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570269892	chr6:5039892-5039893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111524653	chr6:5039968-5039969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534510438	chr6:5040001-5040002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577755535	chr6:5040010-5040011	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs183305405	chr6:5040071-5040072	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs553177672	chr6:5040090-5040091	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs543382633	chr6:5040108-5040109	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs150565971	chr6:5040109-5040110	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs189198817	chr6:5040142-5040143	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs557049784	chr6:5040172-5040173	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs2994695	chr6:5040244-5040245	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs546280374	chr6:5040283-5040284	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs2994696	chr6:5040298-5040299	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs528644163	chr6:5040315-5040316	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs540820520	chr6:5040327-5040328	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs369007935	chr6:5040343-5040344	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs562344146	chr6:5040419-5040420	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs548561039	chr6:5040442-5040443	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs4246072	chr6:5040446-5040447	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs546421903	chr6:5040465-5040466	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs139585489	chr6:5040476-5040477	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs72827903	chr6:5040512-5040513	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs377229512	chr6:5040514-5040515	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs369433721	chr6:5040550-5040551	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs551806878	chr6:5040570-5040571	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs192454938	chr6:5040574-5040575	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs570990913	chr6:5040578-5040579	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs369522331	chr6:5040582-5040583	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs12194663	chr6:5040586-5040587	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs59107217	chr6:5040589-5040590	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs28479327	chr6:5040590-5040591	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs368094	chr6:5040593-5040594	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs75468198	chr6:5040594-5040595	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs202131809	chr6:5040598-5040599	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs535086737	chr6:5040602-5040603	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs535357796	chr6:5040606-5040607	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs71765742	chr6:5040619-5040620	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs28516493	chr6:5040630-5040631	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs539840050	chr6:5040632-5040633	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs554992262	chr6:5040714-5040715	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs558225338	chr6:5040761-5040762	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Developmental delay	19490664	CNVD
Cancer	21183584	CNVD
Multiple Epiphyseal Dysplasia	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Glaucoma	18694899	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Invasive pancreatic ductal carcinoma	16982739	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
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
small cell lung cancer	20016488	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
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
dysmorphism	22105932	CNVD
psychomotor delay	22105932	CNVD
Ovarian cancer	19193619	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5027200-5047200	Weak transcription	Adipose Nuclei	Adipose
2	chr6:5031200-5042800	Weak transcription	Ovary	ovary
3	chr6:5031600-5042800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr6:5031800-5043800	Weak transcription	Spleen	Spleen
5	chr6:5033400-5046000	Weak transcription	Fetal Intestine Small	intestine
6	chr6:5033400-5048600	Weak transcription	Aorta	Aorta
7	chr6:5034400-5045200	Weak transcription	Fetal Stomach	stomach
8	chr6:5034800-5045600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr6:5034800-5047400	Weak transcription	Esophagus	oesophagus
10	chr6:5035000-5047400	Weak transcription	Primary B cells from cord blood	blood
11	chr6:5035400-5047800	Weak transcription	Primary B cells from peripheral blood	blood
12	chr6:5035800-5042600	Weak transcription	Placenta	Placenta
13	chr6:5036600-5044800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr6:5037000-5050800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:5037200-5041000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr6:5037200-5044800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr6:5037200-5045200	Weak transcription	Fetal Muscle Leg	muscle
18	chr6:5037200-5046000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr6:5040600-5044800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr6:5041000-5042200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr6:5041000-5045200	Weak transcription	Primary T cells from cord blood	blood
22	chr6:5042200-5043000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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