Variant report

Variant	nsv1008463
Chromosome Location	chr2:213356335-213388695
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:213370671..213373168-chr2:213375734..213377389,2	MCF-7	breast:
2	chr2:213370671..213373168-chr2:213375734..213377389,2	MCF-7	breast:
3	chr2:213042144..213043012-chr2:213382544..213383068,2	MCF-7	breast:
4	chr2:213353950..213356217-chr2:213359072..213360969,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPAG16-10	chr2:213384075-213384142	l_2023_chr2:213368288-213390223_testes
2	lnc-SPAG16-10	chr2:213368289-213368358	l_2023_chr2:213368288-213390223_testes

No data

Extended variants
information (count: 1190 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1190 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10206719	chr2:213356335-213356336	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs191239244	chr2:213356348-213356349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568507973	chr2:213356351-213356352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs535642664	chr2:213356368-213356369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145399183	chr2:213356370-213356371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575484436	chr2:213356380-213356381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs546108587	chr2:213356404-213356405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs183395726	chr2:213356495-213356496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs75526116	chr2:213356563-213356564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565220942	chr2:213356638-213356639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540719104	chr2:213356658-213356659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs148032922	chr2:213356671-213356672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs62186301	chr2:213356677-213356678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs542001128	chr2:213356736-213356737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563496199	chr2:213356759-213356760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs530792048	chr2:213356805-213356806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188279456	chr2:213356812-213356813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs376541717	chr2:213356897-213356898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs533033643	chr2:213356909-213356910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs2128319	chr2:213356929-213356930	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs13430903	chr2:213356968-213356969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs116014352	chr2:213357040-213357041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535555229	chr2:213357047-213357048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371045117	chr2:213357101-213357102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200197731	chr2:213357124-213357125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145133748	chr2:213357125-213357126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374203026	chr2:213357126-213357127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539677043	chr2:213357243-213357244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs374364025	chr2:213357286-213357287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs76274571	chr2:213357310-213357311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs573501771	chr2:213357325-213357326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs73989027	chr2:213357371-213357372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs548815897	chr2:213357416-213357417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs552698687	chr2:213357459-213357460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs574558709	chr2:213357474-213357475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs190822716	chr2:213357530-213357531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs150847588	chr2:213357548-213357549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs183334780	chr2:213357631-213357632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545726992	chr2:213357634-213357635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs1283372	chr2:213357638-213357639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138166968	chr2:213357646-213357647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546924458	chr2:213357654-213357655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561767743	chr2:213357699-213357700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529311687	chr2:213357757-213357758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550642722	chr2:213357769-213357770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529416738	chr2:213357852-213357853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs116214277	chr2:213357948-213357949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs13383801	chr2:213357980-213357981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551695058	chr2:213358001-213358002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567108785	chr2:213358024-213358025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	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
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	CNVD
Renal cell carcinoma	18765545	CNVD
Ovarian cancer	19193619	CNVD
Non-small cell lung cancer	18676828	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	21147756	CNVD
Schizophrenia	18990708	CNVD
Acute lymphoblastic leukemia	22237106	CNVD

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213353400-213362200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:213353800-213356600	Weak transcription	Brain Angular Gyrus	brain
3	chr2:213354200-213359800	Weak transcription	Fetal Kidney	kidney
4	chr2:213355800-213356600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:213356200-213356600	Enhancers	Brain Hippocampus Middle	brain
6	chr2:213356200-213357000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:213356200-213359800	Weak transcription	Fetal Heart	heart
8	chr2:213356600-213356800	Enhancers	Brain Angular Gyrus	brain
9	chr2:213356600-213357400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:213356800-213357200	Weak transcription	Brain Angular Gyrus	brain
11	chr2:213357200-213357600	Enhancers	Brain Angular Gyrus	brain
12	chr2:213357400-213357600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:213358800-213360000	Enhancers	Hela-S3	cervix
14	chr2:213359800-213360600	Enhancers	Fetal Kidney	kidney
15	chr2:213359800-213361400	Enhancers	Fetal Heart	heart
16	chr2:213361400-213365800	Weak transcription	Fetal Heart	heart
17	chr2:213362200-213362400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:213362400-213365600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:213364200-213364400	Weak transcription	Brain Substantia Nigra	brain
20	chr2:213364400-213364600	Enhancers	Brain Substantia Nigra	brain
21	chr2:213364400-213365400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:213364600-213367200	Weak transcription	Brain Substantia Nigra	brain
23	chr2:213364800-213365000	Enhancers	Brain Anterior Caudate	brain
24	chr2:213365000-213365600	Weak transcription	Brain Anterior Caudate	brain
25	chr2:213365600-213366200	Enhancers	Brain Anterior Caudate	brain
26	chr2:213365600-213366400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:213365800-213366200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:213365800-213366200	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr2:213365800-213366200	Enhancers	Brain Hippocampus Middle	brain
30	chr2:213365800-213366200	Enhancers	Fetal Heart	heart
31	chr2:213366200-213367200	Weak transcription	Fetal Heart	heart
32	chr2:213366200-213368400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:213366400-213370000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:213367200-213367400	Enhancers	Fetal Heart	heart
35	chr2:213367200-213367600	Enhancers	Brain Substantia Nigra	brain
36	chr2:213367400-213367800	Weak transcription	Fetal Heart	heart
37	chr2:213367600-213367800	Enhancers	Left Ventricle	heart
38	chr2:213367800-213368800	Enhancers	Fetal Heart	heart
39	chr2:213367800-213372200	Weak transcription	Aorta	Aorta
40	chr2:213368400-213368800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:213370000-213370400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr2:213370400-213373800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:213373800-213376000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr2:213376000-213376200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr2:213376200-213378600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:213378600-213378800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr2:213378800-213379000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr2:213379000-213380800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr2:213380800-213384400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr2:213381200-213381400	Enhancers	Brain Substantia Nigra	brain

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