Variant report

Variant	nsv524317
Chromosome Location	chr1:90729744-90836739
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:9)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:90823417..90825401-chr1:90827487..90829042,2	K562	blood:
2	chr1:90597415..90598077-chr1:90752036..90752920,2	MCF-7	breast:
3	chr1:90734199..90736492-chr1:90847892..90850579,2	K562	blood:
4	chr1:90767591..90770348-chr1:90770465..90772590,2	K562	blood:
5	chr1:90781760..90784219-chr1:90784830..90787274,2	K562	blood:
6	chr1:90823417..90825401-chr1:90827487..90829042,2	K562	blood:
7	chr1:90767591..90770348-chr1:90770465..90772590,2	K562	blood:
8	chr1:90781760..90784219-chr1:90784830..90787274,2	K562	blood:
9	chr1:90734185..90735025-chr5:77787007..77787809,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BARHL2-2	chr1:90752760-90752820	XLOC_000913
2	lnc-ZNF326-2	chr1:90747857-90747905	NONHSAT004390
3	lnc-BARHL2-6	chr1:90752127-90752154	NONHSAT004391
4	lnc-BARHL2-6	chr1:90750132-90750153	NONHSAT004391
5	lnc-ZNF326-2	chr1:90749364-90749869	NONHSAT004390
6	lnc-BARHL2-2	chr1:90762498-90763021	XLOC_000913
7	lnc-BARHL2-6	chr1:90749055-90749130	NONHSAT004391
8	lnc-BARHL2-6	chr1:90771513-90771617	NONHSAT004391

No data

Variant related genes	Relation type
ENSG00000145685	chromatin interactions

Extended variants
information (count: 2443 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:2443 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557468678	chr1:90734193-90734194	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs138783340	chr1:90734336-90734337	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs539849249	chr1:90734340-90734341	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs368347847	chr1:90734505-90734506	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs188774428	chr1:90734513-90734514	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs142754441	chr1:90734595-90734596	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs541356776	chr1:90734603-90734604	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs553255036	chr1:90734611-90734612	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs574691637	chr1:90734644-90734645	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs549787256	chr1:90734652-90734653	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs146048187	chr1:90734754-90734755	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs530508128	chr1:90734787-90734788	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs545851411	chr1:90734816-90734817	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs563948099	chr1:90734907-90734908	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs535297883	chr1:90734911-90734912	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs555567090	chr1:90734913-90734914	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs12058692	chr1:90735007-90735008	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs185738764	chr1:90735009-90735010	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs566960485	chr1:90736214-90736215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534215473	chr1:90736257-90736258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549385655	chr1:90736268-90736269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567632959	chr1:90736276-90736277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549400592	chr1:90736298-90736299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535409665	chr1:90736304-90736305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557174293	chr1:90736339-90736340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575358491	chr1:90736379-90736380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144935145	chr1:90736413-90736414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559595693	chr1:90736491-90736492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12084274	chr1:90736507-90736508	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs7548218	chr1:90736711-90736712	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs190325977	chr1:90736725-90736726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561361687	chr1:90736738-90736739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs80054428	chr1:90736773-90736774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs72954808	chr1:90736805-90736806	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs557855956	chr1:90736813-90736814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563154993	chr1:90736850-90736851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145436821	chr1:90736894-90736895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376645013	chr1:90736947-90736948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181122799	chr1:90736978-90736979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560604779	chr1:90736984-90736985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs527805147	chr1:90736990-90736991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs148830016	chr1:90737007-90737008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs142546418	chr1:90737071-90737072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538198628	chr1:90737095-90737096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550643204	chr1:90737118-90737119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569131736	chr1:90737147-90737148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539281427	chr1:90737290-90737291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557512872	chr1:90737363-90737364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561920066	chr1:90737391-90737392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572666899	chr1:90737402-90737403	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21922591	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:227 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:90736200-90752000	Weak transcription	Aorta	Aorta
2	chr1:90737400-90737600	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr1:90737600-90737800	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr1:90737600-90738400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr1:90737800-90738800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:90738400-90739800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr1:90738400-90740200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr1:90738800-90739200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr1:90738800-90739800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr1:90738800-90740200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr1:90738800-90741200	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr1:90738800-90741600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr1:90739000-90739600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:90739000-90739800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:90739000-90740400	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr1:90739200-90739600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr1:90739200-90739800	Enhancers	H9 Cell Line	embryonic stem cell
18	chr1:90739200-90739800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr1:90739400-90739600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr1:90739600-90739800	Enhancers	H1 Cell Line	embryonic stem cell
21	chr1:90739600-90739800	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr1:90739800-90740200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:90739800-90740800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr1:90739800-90740800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr1:90739800-90740800	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr1:90739800-90740800	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr1:90739800-90740800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr1:90739800-90740800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr1:90739800-90741000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr1:90740000-90740600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:90740200-90740600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr1:90740200-90741000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr1:90740400-90740800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr1:90740600-90741000	Weak transcription	Gastric	stomach
35	chr1:90740600-90742600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:90740600-90743000	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr1:90740800-90741200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr1:90740800-90741200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr1:90740800-90741600	Enhancers	Brain Germinal Matrix	brain
40	chr1:90740800-90741800	Enhancers	H9 Cell Line	embryonic stem cell
41	chr1:90740800-90741800	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr1:90740800-90741800	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr1:90740800-90741800	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr1:90740800-90741800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr1:90740800-90742000	Enhancers	H1 Cell Line	embryonic stem cell
46	chr1:90741000-90741200	Enhancers	Gastric	stomach
47	chr1:90741000-90741800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr1:90741000-90742000	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr1:90741200-90741600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr1:90741200-90742200	Weak transcription	Gastric	stomach

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