Variant report

Variant	nsv546867
Chromosome Location	chr1:98084369-98111930
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 930 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:930 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11801171	chr1:98084369-98084370	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs77605886	chr1:98084384-98084385	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185363762	chr1:98084385-98084386	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113198881	chr1:98084414-98084415	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557721105	chr1:98084467-98084468	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532821835	chr1:98084472-98084473	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577879653	chr1:98084484-98084485	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540200821	chr1:98084500-98084501	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559697716	chr1:98084529-98084530	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372315206	chr1:98084657-98084658	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539048346	chr1:98084659-98084660	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528525208	chr1:98084687-98084688	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542330011	chr1:98084761-98084762	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189933936	chr1:98084765-98084766	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181519272	chr1:98084766-98084767	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs138745790	chr1:98084805-98084806	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112048487	chr1:98084880-98084881	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375437184	chr1:98084901-98084902	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185470935	chr1:98084911-98084912	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189885468	chr1:98084914-98084915	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs180878612	chr1:98084932-98084933	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113831506	chr1:98084946-98084947	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184892955	chr1:98084964-98084965	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192392067	chr1:98084991-98084992	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs72975739	chr1:98085089-98085090	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs149338280	chr1:98085092-98085093	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369757794	chr1:98085107-98085108	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566246934	chr1:98085122-98085123	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557925032	chr1:98085140-98085141	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs114554902	chr1:98085141-98085142	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371372674	chr1:98085144-98085145	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374811816	chr1:98085261-98085262	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553818348	chr1:98085286-98085287	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573242860	chr1:98085347-98085348	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373338218	chr1:98085353-98085354	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75951253	chr1:98085380-98085381	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368878438	chr1:98085459-98085460	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562113940	chr1:98085499-98085500	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575815756	chr1:98085515-98085516	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191489228	chr1:98085534-98085535	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs17369442	chr1:98085570-98085571	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs114964942	chr1:98085582-98085583	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560475446	chr1:98085594-98085595	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182838635	chr1:98085600-98085601	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547256080	chr1:98085603-98085604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528982095	chr1:98085607-98085608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557526423	chr1:98085621-98085622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577162488	chr1:98085628-98085629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528813336	chr1:98085655-98085656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187117284	chr1:98085693-98085694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Autism	17483303	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Gastric cancer	16891809	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
Malignant melanoma	17260012	CNVD
lymphocytic leukemia	21291569	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20803296	CNVD
Colorectal cancer	20653680	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:220 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:98009800-98112200	Weak transcription	HSMM	muscle
2	chr1:98051800-98096000	Weak transcription	Left Ventricle	heart
3	chr1:98060000-98087400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr1:98060800-98092400	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr1:98063000-98111400	Weak transcription	Liver	Liver
6	chr1:98073000-98087600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:98074600-98085800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr1:98077400-98087400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:98077400-98099400	Weak transcription	Primary B cells from cord blood	blood
10	chr1:98081200-98084800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr1:98081800-98100600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr1:98083000-98085600	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr1:98083200-98099000	Weak transcription	Primary T cells from cord blood	blood
14	chr1:98085200-98103400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr1:98085600-98091000	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr1:98086400-98094400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr1:98087200-98087400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:98087400-98088400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:98087400-98089000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:98087400-98089000	Enhancers	Muscle Satellite Cultured Cells	--
21	chr1:98087400-98111400	Weak transcription	Dnd41	blood
22	chr1:98087600-98087800	Enhancers	Ovary	ovary
23	chr1:98087600-98088200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:98087600-98088800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:98087800-98143600	Weak transcription	Ovary	ovary
26	chr1:98088000-98088800	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr1:98088200-98088600	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr1:98088400-98088800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:98088400-98088800	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr1:98088400-98088800	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr1:98088400-98088800	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr1:98088400-98089000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr1:98088400-98089000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:98088400-98089000	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr1:98088600-98088800	Enhancers	Brain Hippocampus Middle	brain
36	chr1:98088600-98088800	Enhancers	Psoas Muscle	Psoas
37	chr1:98088600-98088800	Enhancers	Small Intestine	intestine
38	chr1:98088600-98089000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr1:98088600-98089000	Enhancers	HUVEC	blood vessel
40	chr1:98088800-98096000	Weak transcription	Brain Hippocampus Middle	brain
41	chr1:98088800-98098200	Weak transcription	Small Intestine	intestine
42	chr1:98088800-98109600	Weak transcription	Psoas Muscle	Psoas
43	chr1:98089000-98094000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:98089000-98096000	Weak transcription	HUVEC	blood vessel
45	chr1:98089000-98096200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr1:98089000-98097600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:98090400-98090600	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr1:98090400-98090600	Enhancers	Brain Substantia Nigra	brain
49	chr1:98090600-98091200	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr1:98090600-98096600	Weak transcription	Brain Substantia Nigra	brain

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