Variant report

Variant	nsv972193
Chromosome Location	chr8:118399518-118413497
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 484 )
Associated
traits (count: 130 )

Variant overlapped rSNPs/rCNVs (count:484 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143106278	chr8:118399538-118399539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538614927	chr8:118399544-118399545	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547792829	chr8:118399558-118399559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566338484	chr8:118399597-118399598	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536452797	chr8:118399604-118399605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570984141	chr8:118399613-118399614	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564848814	chr8:118399644-118399645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs1613047	chr8:118399656-118399657	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs576698580	chr8:118399658-118399659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557923780	chr8:118399670-118399671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372339883	chr8:118399686-118399687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559071126	chr8:118399714-118399715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577202433	chr8:118399746-118399747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541380475	chr8:118399751-118399752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73325271	chr8:118399756-118399757	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs144383685	chr8:118399790-118399791	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs148620178	chr8:118399797-118399798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553648412	chr8:118399811-118399812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142048781	chr8:118399837-118399838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1686351	chr8:118400003-118400004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531381861	chr8:118400015-118400016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540958018	chr8:118400043-118400044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187835762	chr8:118400112-118400113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1686350	chr8:118400185-118400186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371030504	chr8:118400210-118400211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7008823	chr8:118400218-118400219	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs532036166	chr8:118400243-118400244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs139573754	chr8:118400253-118400254	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566250699	chr8:118400258-118400259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536990813	chr8:118400293-118400294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs193151449	chr8:118400304-118400305	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529535398	chr8:118400331-118400332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs145088766	chr8:118400368-118400369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549566399	chr8:118400474-118400475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570895452	chr8:118400490-118400491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs16889698	chr8:118400549-118400550	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs117653692	chr8:118400567-118400568	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551581518	chr8:118400597-118400598	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185708322	chr8:118400648-118400649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10505303	chr8:118400662-118400663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2853187	chr8:118400692-118400693	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs2023139	chr8:118400711-118400712	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs543187233	chr8:118400712-118400713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567193736	chr8:118400746-118400747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369528521	chr8:118400789-118400790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147615696	chr8:118400801-118400802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532195506	chr8:118400821-118400822	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540757864	chr8:118400832-118400833	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs114560675	chr8:118400837-118400838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529634122	chr8:118400871-118400872	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:130)

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
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	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	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
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
Carcinoma ex pleomorphic adenoma	18828159	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
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	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
Chronic myeloid leukemia	21384125	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Breast cancer	20932292	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	17268525	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	19204574	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	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
Oral squamous cell carcinoma	21853135	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	19907438	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118397600-118401600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:118397600-118402000	Enhancers	HMEC	breast
3	chr8:118397800-118399800	Enhancers	Fetal Brain Male	brain
4	chr8:118398000-118401600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr8:118398200-118401000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:118398200-118401800	Enhancers	NHEK	skin
7	chr8:118398400-118399800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr8:118398400-118400400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:118398600-118400000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:118398600-118400600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:118398600-118401600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:118398800-118400400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:118398800-118409600	Weak transcription	NHDF-Ad	bronchial
14	chr8:118400400-118400600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:118401600-118409800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:118404000-118405200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:118405200-118409800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:118408000-118412600	Enhancers	NHEK	skin
19	chr8:118408400-118408600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:118408400-118408800	Enhancers	HMEC	breast
21	chr8:118408400-118412600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:118408600-118409200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr8:118408800-118409800	Weak transcription	HMEC	breast
24	chr8:118409200-118412200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:118409600-118412400	Enhancers	NHDF-Ad	bronchial
26	chr8:118409800-118410800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr8:118409800-118410800	Enhancers	A549	lung
28	chr8:118409800-118412600	Enhancers	HMEC	breast
29	chr8:118409800-118412800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:118410000-118412600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr8:118410200-118412000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr8:118410200-118412200	Enhancers	Muscle Satellite Cultured Cells	--
33	chr8:118410200-118412400	Enhancers	Osteobl	bone
34	chr8:118410400-118410800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr8:118410400-118411000	Enhancers	NHLF	lung
36	chr8:118410400-118411800	Enhancers	NH-A	brain
37	chr8:118410400-118412400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr8:118410400-118412800	Enhancers	HUVEC	blood vessel
39	chr8:118410600-118411800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr8:118410600-118412200	Enhancers	HSMM	muscle
41	chr8:118410800-118411200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr8:118410800-118411200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr8:118410800-118411200	Flanking Active TSS	A549	lung
44	chr8:118410800-118412400	Enhancers	Colon Smooth Muscle	Colon
45	chr8:118411000-118411600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr8:118411000-118411600	Enhancers	HSMMtube	muscle
47	chr8:118411200-118411800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr8:118411200-118412200	Enhancers	A549	lung
49	chr8:118411200-118412600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr8:118412200-118428400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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