Variant report

Variant	nsv870724
Chromosome Location	chr1:86352810-86402244
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr1:86360393-86360593	K562	blood:	n/a	n/a
2	CEBPB	chr1:86399690-86399971	IMR90	lung:	n/a	n/a
3	CEBPB	chr1:86354701-86354883	A549	lung:	n/a	n/a
4	CTCF	chr1:86360350-86360721	IMR90	lung:	n/a	chr1:86360532-86360545
5	CTCF	chr1:86377520-86377670	BJ	skin:	n/a	n/a
6	CTCF	chr1:86360400-86360550	GM12872	blood:	n/a	chr1:86360532-86360545
7	CTCF	chr1:86377520-86377670	HUVEC	blood vessel:	n/a	n/a
8	CTCF	chr1:86377520-86377670	GM12865	blood:	n/a	n/a
9	CTCF	chr1:86360396-86360664	Medullo	brain:	n/a	chr1:86360532-86360545
10	CTCF	chr1:86377540-86377690	GM12869	blood:	n/a	n/a
11	CTCF	chr1:86377580-86377730	AoAF	blood vessel:	n/a	n/a
12	CTCF	chr1:86360500-86360650	GM12871	blood:	n/a	chr1:86360532-86360545
13	CTCF	chr1:86360429-86360649	Hela-S3	cervix:	n/a	chr1:86360532-86360545
14	CTCF	chr1:86360460-86360610	HRPEpiC	eye:	n/a	chr1:86360532-86360545
15	CTCF	chr1:86360500-86360650	MCF-7	breast:	n/a	chr1:86360532-86360545
16	CTCF	chr1:86377560-86377710	HRPEpiC	eye:	n/a	n/a
17	CTCF	chr1:86360423-86360636	GM10248	blood:	n/a	chr1:86360532-86360545
18	CTCF	chr1:86360440-86360590	AoAF	blood vessel:	n/a	chr1:86360532-86360545
19	CTCF	chr1:86360460-86360610	HMEC	breast:	n/a	chr1:86360532-86360545
20	CTCF	chr1:86377580-86377730	HMF	breast:	n/a	n/a
21	CTCF	chr1:86377580-86377730	Caco-2	colon:	n/a	n/a
22	CTCF	chr1:86360460-86360610	HEEpiC	esophagus:	n/a	chr1:86360532-86360545
23	CTCF	chr1:86360494-86360576	GM13976	blood:	n/a	chr1:86360532-86360545
24	CTCF	chr1:86377600-86377750	HFF-Myc	foreskin:	n/a	n/a
25	CTCF	chr1:86377613-86377654	Pancreas_OC	pancreas:	n/a	n/a
26	CTCF	chr1:86360418-86360648	GM12878	blood:	n/a	chr1:86360532-86360545
27	CTCF	chr1:86360440-86360590	BE2_C	brain:	n/a	chr1:86360532-86360545
28	CTCF	chr1:86376940-86377090	HMF	breast:	n/a	n/a
29	CTCF	chr1:86377565-86377690	GM12878	blood:	n/a	n/a
30	CTCF	chr1:86377520-86377670	HRE	kidney:	n/a	n/a
31	CTCF	chr1:86360468-86360594	MCF-7	breast:	n/a	chr1:86360532-86360545
32	CTCF	chr1:86377420-86377570	A549	lung:	n/a	n/a
33	CTCF	chr1:86377500-86377650	HEK293	kidney:	n/a	n/a
34	CTCF	chr1:86377540-86377690	HFF	foreskin:	n/a	n/a
35	CTCF	chr1:86377479-86377798	GM12878	blood:	n/a	n/a
36	CTCF	chr1:86377540-86377661	Fibrobl	skin:	n/a	n/a
37	CTCF	chr1:86377580-86377730	HVMF	connective:	n/a	n/a
38	CTCF	chr1:86377480-86377630	GM12864	blood:	n/a	n/a
39	CTCF	chr1:86377580-86377730	AG09319	gingival:	n/a	n/a
40	CTCF	chr1:86377527-86377666	ProgFib	skin:	n/a	n/a
41	CTCF	chr1:86360500-86360650	SK-N-SH_RA	brain:	n/a	chr1:86360532-86360545
42	CTCF	chr1:86387703-86387782	LNCaP	prostate:	n/a	n/a
43	CTCF	chr1:86360460-86360610	HBMEC	blood vessel:	n/a	chr1:86360532-86360545
44	CTCF	chr1:86360440-86360590	GM12872	blood:	n/a	chr1:86360532-86360545
45	CTCF	chr1:86360480-86360630	GM12872	blood:	n/a	chr1:86360532-86360545
46	CTCF	chr1:86360440-86360590	HBMEC	blood vessel:	n/a	chr1:86360532-86360545
47	CTCF	chr1:86377500-86377650	HCM	heart:	n/a	n/a
48	CTCF	chr1:86377580-86377730	HEEpiC	esophagus:	n/a	n/a
49	CTCF	chr1:86360429-86360585	SK-N-SH_RA	brain:	n/a	chr1:86360532-86360545
50	CTCF	chr1:86360440-86360590	HCPEpiC	choroid plexus:	n/a	chr1:86360532-86360545

No.	Distal block	Cell Line	Cell type
1	chr1:86349495..86351039-chr1:86359014..86361069,2	MCF-7	breast:
2	chr1:86360058..86360590-chr1:86821594..86822114,2	MCF-7	breast:
3	chr1:86373838..86377077-chr1:86378435..86381961,4	K562	blood:
4	chr1:86373838..86377077-chr1:86378435..86381961,4	K562	blood:
5	chr1:86397392..86400390-chr9:100675486..100677661,2	K562	blood:
6	chr1:86360081..86361020-chr1:86483694..86484478,3	MCF-7	breast:
7	chr1:86397300..86400343-chr9:100673063..100676674,4	K562	blood:

Variant related genes	Relation type
RNA5SP51	TF binding region
ENSG00000136932	chromatin interactions

Extended variants
information (count: 1688 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:1688 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10732722	chr1:86352810-86352811	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs150875434	chr1:86352826-86352827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556918675	chr1:86352834-86352835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372207622	chr1:86352893-86352894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554465420	chr1:86352945-86352946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs74665528	chr1:86352959-86352960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183619318	chr1:86352960-86352961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548909404	chr1:86352987-86352988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139330431	chr1:86353000-86353001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559983712	chr1:86353063-86353064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs199829077	chr1:86353068-86353069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576453663	chr1:86353072-86353073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376204976	chr1:86353123-86353124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201311165	chr1:86353159-86353160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs114712499	chr1:86353164-86353165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12732365	chr1:86353171-86353172	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs78228240	chr1:86353172-86353173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551199012	chr1:86353266-86353267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs367562992	chr1:86353274-86353275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs114203422	chr1:86353281-86353282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201777485	chr1:86353291-86353292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187335201	chr1:86353298-86353299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs117369425	chr1:86353355-86353356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112607466	chr1:86353370-86353371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552279722	chr1:86353443-86353444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs72952579	chr1:86353502-86353503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113763432	chr1:86353557-86353558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370065001	chr1:86353599-86353600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191624654	chr1:86353614-86353615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567931681	chr1:86353707-86353708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545500491	chr1:86353719-86353720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35604219	chr1:86353720-86353721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs397980694	chr1:86353728-86353729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150003668	chr1:86353757-86353758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs6671033	chr1:86353772-86353773	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs576683588	chr1:86353789-86353790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111319763	chr1:86353881-86353882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369347562	chr1:86353963-86353964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183828669	chr1:86353965-86353966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538243780	chr1:86353973-86353974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147676654	chr1:86353994-86353995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551443780	chr1:86354002-86354003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188143222	chr1:86354004-86354005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561787667	chr1:86354005-86354006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541487200	chr1:86354037-86354038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530337961	chr1:86354059-86354060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140679146	chr1:86354111-86354112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560808572	chr1:86354122-86354123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs193272278	chr1:86354130-86354131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs114657977	chr1:86354144-86354145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Colorectal cancer	16272173	CNVD
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
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Non-muscle invasive bladder neoplasm	19445696	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
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	16397240	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86342400-86370600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr1:86345600-86370600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr1:86347000-86366000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:86354400-86355800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:86355000-86355400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:86361000-86366200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr1:86364200-86364800	Enhancers	NHDF-Ad	bronchial
8	chr1:86364400-86365000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:86366000-86366600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:86366200-86366800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
11	chr1:86366600-86374000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:86366800-86386400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr1:86370600-86371600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr1:86370600-86373400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:86371400-86371800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:86371600-86380800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr1:86373400-86382200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:86374000-86375000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:86374600-86375000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:86375000-86384800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:86380800-86381400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr1:86381400-86386000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr1:86382200-86382800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr1:86384800-86387800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr1:86386000-86387600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
26	chr1:86386000-86387600	ZNF genes & repeats	Fetal Lung	lung
27	chr1:86386400-86387200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
28	chr1:86387600-86399000	Weak transcription	Fetal Lung	lung
29	chr1:86387600-86399400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr1:86391000-86403200	Weak transcription	Primary hematopoietic stem cells	blood
31	chr1:86392600-86393000	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr1:86392600-86393600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:86393600-86402000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr1:86399000-86401400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:86399000-86402400	Enhancers	Fetal Lung	lung
36	chr1:86399200-86400600	Enhancers	Fetal Stomach	stomach
37	chr1:86399400-86400000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr1:86399600-86400200	Enhancers	Adipose Nuclei	Adipose
39	chr1:86400000-86401600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr1:86400200-86401200	Weak transcription	Adipose Nuclei	Adipose
41	chr1:86400200-86402800	Enhancers	Liver	Liver
42	chr1:86400400-86400600	Enhancers	Stomach Smooth Muscle	stomach
43	chr1:86400600-86401400	Weak transcription	Fetal Stomach	stomach
44	chr1:86400600-86402600	Weak transcription	Stomach Smooth Muscle	stomach
45	chr1:86401200-86403000	Enhancers	Adipose Nuclei	Adipose
46	chr1:86401200-86407400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr1:86401400-86401800	Enhancers	Fetal Stomach	stomach
48	chr1:86401400-86402200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:86401600-86404800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr1:86401800-86404600	Weak transcription	Fetal Stomach	stomach

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