Variant report

Variant	nsv519291
Chromosome Location	chr1:92240685-92248695
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:92232541..92234077-chr1:92245076..92247021,2	K562	blood:
2	chr1:92245858..92248144-chr1:92269665..92271280,2	K562	blood:
3	chr1:92194536..92198402-chr1:92243329..92245903,3	K562	blood:
4	chr1:92237802..92240400-chr1:92241191..92243565,2	K562	blood:
5	chr1:92239334..92241615-chr1:92243876..92245492,2	K562	blood:
6	chr1:92242856..92244541-chr1:92248702..92251001,2	K562	blood:
7	chr1:92243502..92246899-chr1:92255853..92258486,3	K562	blood:
8	chr1:92239334..92241615-chr1:92243876..92245492,2	K562	blood:

No data

Extended variants
information (count: 310 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:310 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4658265	chr1:92240685-92240686	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs574183388	chr1:92240695-92240696	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567143049	chr1:92240705-92240706	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs141172314	chr1:92240732-92240733	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562288286	chr1:92240735-92240736	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs4658266	chr1:92240747-92240748	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs4658267	chr1:92240753-92240754	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs567587363	chr1:92240814-92240815	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181862002	chr1:92240835-92240836	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556426512	chr1:92240857-92240858	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532881628	chr1:92240881-92240882	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569364764	chr1:92240906-92240907	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551023198	chr1:92240990-92240991	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374291824	chr1:92241021-92241022	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186114908	chr1:92241032-92241033	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs284202	chr1:92241033-92241034	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
17	rs386633424	chr1:92241052-92241053	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs451698	chr1:92241053-92241054	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556106930	chr1:92241054-92241055	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150286999	chr1:92241063-92241064	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189381422	chr1:92241080-92241081	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558235686	chr1:92241108-92241109	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573366110	chr1:92241363-92241364	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540302991	chr1:92241366-92241367	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562092759	chr1:92241381-92241382	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574273245	chr1:92241401-92241402	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530822624	chr1:92241411-92241412	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544858378	chr1:92241483-92241484	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs377143256	chr1:92241492-92241493	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs114228499	chr1:92241516-92241517	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551557605	chr1:92241571-92241572	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs1473486	chr1:92241576-92241577	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs137985281	chr1:92241708-92241709	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs1473487	chr1:92241731-92241732	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs1473488	chr1:92241746-92241747	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs542806907	chr1:92241772-92241773	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2171584	chr1:92241776-92241777	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs112489545	chr1:92241791-92241792	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576779354	chr1:92241803-92241804	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539493750	chr1:92241838-92241839	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576229571	chr1:92241872-92241873	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571469120	chr1:92241883-92241884	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538881643	chr1:92241917-92241918	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181363176	chr1:92241933-92241934	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566999550	chr1:92241946-92241947	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534271837	chr1:92241972-92241973	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555496687	chr1:92241989-92241990	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs72967163	chr1:92241991-92241992	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs114842996	chr1:92242012-92242013	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545044534	chr1:92242022-92242023	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
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
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
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	16397240	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Prostate cancer	19156837	CNVD
Autism	17483303	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:391 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92204800-92247000	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr1:92216800-92241800	Weak transcription	Aorta	Aorta
3	chr1:92217800-92247800	Weak transcription	Small Intestine	intestine
4	chr1:92220600-92255800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr1:92221000-92248000	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr1:92224400-92242800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr1:92225400-92241600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:92227000-92257200	Weak transcription	Fetal Intestine Small	intestine
9	chr1:92229200-92241600	Weak transcription	Esophagus	oesophagus
10	chr1:92230200-92240800	Weak transcription	Right Atrium	heart
11	chr1:92230400-92242400	Weak transcription	Lung	lung
12	chr1:92230600-92247800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr1:92231000-92246800	Weak transcription	Hela-S3	cervix
14	chr1:92231400-92242600	Weak transcription	Stomach Mucosa	stomach
15	chr1:92232600-92243200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr1:92233200-92257000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr1:92233400-92246800	Weak transcription	A549	lung
18	chr1:92235200-92240800	Weak transcription	Fetal Muscle Trunk	muscle
19	chr1:92235400-92242400	Weak transcription	Fetal Stomach	stomach
20	chr1:92235600-92240800	Weak transcription	Placenta	Placenta
21	chr1:92235600-92241600	Weak transcription	Spleen	Spleen
22	chr1:92235600-92242200	Weak transcription	Psoas Muscle	Psoas
23	chr1:92235600-92242400	Weak transcription	Left Ventricle	heart
24	chr1:92235600-92242600	Weak transcription	Fetal Heart	heart
25	chr1:92235600-92243200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:92235600-92243600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr1:92235600-92244600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr1:92235600-92247800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:92235800-92240800	Weak transcription	Adipose Nuclei	Adipose
30	chr1:92235800-92241400	Weak transcription	Colon Smooth Muscle	Colon
31	chr1:92235800-92241800	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr1:92235800-92242600	Weak transcription	Rectal Smooth Muscle	rectum
33	chr1:92235800-92244600	Weak transcription	Right Ventricle	heart
34	chr1:92235800-92246600	Weak transcription	K562	blood
35	chr1:92236000-92243400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr1:92236400-92246000	Weak transcription	NHLF	lung
37	chr1:92236600-92243000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr1:92236800-92240800	Weak transcription	HepG2	liver
39	chr1:92236800-92241600	Weak transcription	Fetal Muscle Leg	muscle
40	chr1:92236800-92242600	Weak transcription	Fetal Lung	lung
41	chr1:92236800-92242800	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr1:92236800-92243400	Weak transcription	Fetal Kidney	kidney
43	chr1:92237000-92240800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr1:92237400-92243800	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr1:92238400-92241200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr1:92238600-92249400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:92238800-92245000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr1:92239200-92246600	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr1:92239400-92240800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr1:92239800-92240800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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