Variant report

Variant	nsv972586
Chromosome Location	chr8:131956217-131962907
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EFR3A-3	chr8:131961755-131961911	ENSG00000253992.1

Extended variants
information (count: 247 )
Associated
traits (count: 142 )

Variant overlapped rSNPs/rCNVs (count:247 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368608301	chr8:131956234-131956235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs60483802	chr8:131956236-131956237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535239839	chr8:131956270-131956271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs147858067	chr8:131956290-131956291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs77381948	chr8:131956305-131956306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538207257	chr8:131956307-131956308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs556585124	chr8:131956436-131956437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs141315691	chr8:131956453-131956454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs35671214	chr8:131956462-131956463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187190731	chr8:131956465-131956466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs34520718	chr8:131956485-131956486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs145266242	chr8:131956492-131956493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572923130	chr8:131956567-131956568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190091307	chr8:131956618-131956619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564994534	chr8:131956642-131956643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532440172	chr8:131956662-131956663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs116651428	chr8:131956675-131956676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563715245	chr8:131956678-131956679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531013698	chr8:131956685-131956686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549468131	chr8:131956784-131956785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567762217	chr8:131956812-131956813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs55670625	chr8:131956818-131956819	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs75300069	chr8:131956847-131956848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183516584	chr8:131956850-131956851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539357597	chr8:131956852-131956853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188560718	chr8:131956875-131956876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568540882	chr8:131956891-131956892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192860359	chr8:131956951-131956952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547951234	chr8:131957097-131957098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554210462	chr8:131957183-131957184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs78673752	chr8:131957190-131957191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs73348507	chr8:131957265-131957266	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs558765641	chr8:131957288-131957289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs147587748	chr8:131957330-131957331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544554849	chr8:131957346-131957347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs111424279	chr8:131957376-131957377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs563653953	chr8:131957406-131957407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs368864609	chr8:131957408-131957409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs149046817	chr8:131957442-131957443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs574455349	chr8:131957444-131957445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs143083095	chr8:131957454-131957455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs539033265	chr8:131957477-131957478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs185825834	chr8:131957530-131957531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs73348508	chr8:131957538-131957539	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs571843688	chr8:131957546-131957547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs114615704	chr8:131957610-131957611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs577986026	chr8:131957623-131957624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs550834780	chr8:131957629-131957630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs535805480	chr8:131957689-131957690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs554149084	chr8:131957701-131957702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:142)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	17603634	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	20729466	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Malignant melanoma	17260012	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Sezary syndrome	18413736	CNVD
Chordoma	18071362	CNVD
Breast cancer	17850661	CNVD
head and neck squamous cell carcinoma	16740747	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	16272173	CNVD
Uveal melanoma	20484589	CNVD
Ovarian cancer	20844748	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21611746	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Colorectal cancer	21645411	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastric cancer	16891809	CNVD
Colorectal cancer	19455253	CNVD
Pregnancies with abnormal ultrasound findings	21110858	CNVD
Breast cancer	19181860	CNVD
Brain cancer	19584924	CNVD
Medulloblastoma	19584924	CNVD
Follicular lymphoma	17699855	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Prostate cancer	22341455	CNVD
Cancer	20164919	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131945400-131958400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr8:131948600-131960000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:131950000-131962400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr8:131954600-131956600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr8:131954800-131957400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr8:131954800-131957600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr8:131954800-131957600	Weak transcription	NHEK	skin
8	chr8:131955000-131957200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:131955000-131957200	Weak transcription	HMEC	breast
10	chr8:131955400-131956400	Enhancers	HUVEC	blood vessel
11	chr8:131955600-131960600	Weak transcription	Brain Anterior Caudate	brain
12	chr8:131957200-131958000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:131957200-131958000	Enhancers	HMEC	breast
14	chr8:131957200-131958200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr8:131957400-131958400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:131957600-131957800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:131957600-131957800	Enhancers	NHEK	skin
18	chr8:131958000-131958400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:131958000-131960000	Weak transcription	HMEC	breast
20	chr8:131958400-131958600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:131958600-131960000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr8:131960000-131960800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:131960000-131960800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr8:131960000-131961200	Enhancers	HMEC	breast
25	chr8:131960200-131961000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr8:131960400-131960600	Enhancers	HSMMtube	muscle
27	chr8:131960400-131961000	Enhancers	HSMM	muscle
28	chr8:131960600-131960800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr8:131960600-131960800	Enhancers	Brain Anterior Caudate	brain
30	chr8:131960600-131960800	Flanking Active TSS	HSMMtube	muscle
31	chr8:131960600-131961000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
32	chr8:131960600-131961000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr8:131960600-131961000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr8:131960600-131961000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
35	chr8:131960600-131961000	Enhancers	NH-A	brain
36	chr8:131960600-131961200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
37	chr8:131960600-131961200	Bivalent Enhancer	Fetal Brain Male	brain
38	chr8:131960600-131961400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
39	chr8:131960800-131961000	Active TSS	Brain Anterior Caudate	brain
40	chr8:131960800-131961200	Active TSS	Brain Germinal Matrix	brain
41	chr8:131960800-131961400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr8:131960800-131961400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr8:131960800-131961600	Active TSS	Fetal Brain Female	brain
44	chr8:131960800-131961600	Active TSS	HSMMtube	muscle
45	chr8:131961000-131961200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr8:131961000-131961200	Bivalent/Poised TSS	Brain Anterior Caudate	brain
47	chr8:131961000-131961200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
48	chr8:131961000-131961200	Bivalent Enhancer	Fetal Muscle Leg	muscle
49	chr8:131961000-131961200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
50	chr8:131961000-131961200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle

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