Variant report

Variant	esv3360474
Chromosome Location	chr6:5694654-5695163
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NRN1-7	chr6:5695115-5695241	ENSG00000270174.1

Extended variants
information (count: 23 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115502602	chr6:5694680-5694681	Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs183283257	chr6:5694681-5694682	Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559882420	chr6:5694709-5694710	Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12215495	chr6:5694713-5694714	Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548821073	chr6:5694730-5694731	Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185688538	chr6:5694812-5694813	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537845008	chr6:5694836-5694837	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550274714	chr6:5694837-5694838	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561016056	chr6:5694854-5694855	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11969885	chr6:5694930-5694931	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs539099306	chr6:5694934-5694935	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554426492	chr6:5694991-5694992	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572623722	chr6:5695007-5695008	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536954647	chr6:5695025-5695026	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78838161	chr6:5695066-5695067	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79583631	chr6:5695076-5695077	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs71540880	chr6:5695077-5695078	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140751544	chr6:5695084-5695085	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs61210395	chr6:5695090-5695091	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113708035	chr6:5695111-5695112	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11752777	chr6:5695126-5695127	Weak transcription Enhancers Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs190496063	chr6:5695128-5695129	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs544677856	chr6:5695137-5695138	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
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
Pancreatic cancer	17952125	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5672200-5705800	Weak transcription	Thymus	Thymus
2	chr6:5673800-5701200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr6:5673800-5709800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr6:5678000-5709400	Weak transcription	Pancreas	Pancrea
5	chr6:5680600-5695400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr6:5680800-5695000	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr6:5681800-5695000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr6:5682400-5695200	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr6:5682400-5695400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr6:5684600-5695400	Weak transcription	Fetal Stomach	stomach
11	chr6:5684800-5696000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr6:5684800-5706000	Weak transcription	Ovary	ovary
13	chr6:5685000-5695400	Weak transcription	HSMMtube	muscle
14	chr6:5685000-5698600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr6:5691400-5698200	Weak transcription	Spleen	Spleen
16	chr6:5692600-5695000	Weak transcription	Dnd41	blood
17	chr6:5692800-5701400	Weak transcription	Right Atrium	heart
18	chr6:5693000-5696000	Weak transcription	Fetal Intestine Small	intestine
19	chr6:5693400-5695200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr6:5694200-5695000	Flanking Active TSS	Primary T cells from cord blood	blood
21	chr6:5694200-5695400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr6:5694200-5695800	Weak transcription	NH-A	brain
23	chr6:5694400-5694800	Weak transcription	Fetal Thymus	thymus
24	chr6:5694400-5695000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr6:5694800-5696400	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr6:5694800-5696400	Enhancers	Fetal Thymus	thymus
27	chr6:5695000-5695200	Enhancers	Primary T cells from cord blood	blood
28	chr6:5695000-5695200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr6:5695000-5695200	Enhancers	NHDF-Ad	bronchial
30	chr6:5695000-5695400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr6:5695000-5695800	Enhancers	Primary T cells fromperipheralblood	blood
32	chr6:5695000-5696200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr6:5695000-5696400	Enhancers	Dnd41	blood
34	chr6:5695000-5696600	Enhancers	Primary monocytes fromperipheralblood	blood

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