Variant report

Variant	nsv482252
Chromosome Location	chr1:102907864-103103888
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:6)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:103059920..103062642-chr1:103088003..103089802,2	MCF-7	breast:
2	chr1:103072742..103074476-chr1:103089450..103092121,2	MCF-7	breast:
3	chr1:103072742..103074476-chr1:103089450..103092121,2	MCF-7	breast:
4	chr1:103059920..103062642-chr1:103088003..103089802,2	MCF-7	breast:
5	chr1:103012153..103012701-chr5:175156658..175157566,2	MCF-7	breast:
6	chr1:103016225..103017019-chr1:103436153..103436688,2	MCF-7	breast:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COL11A1-3	chr1:103005667-103005774	NONHSAT004876
2	lnc-COL11A1-3	chr1:103091736-103091986	NONHSAT004876
3	lnc-COL11A1-3	chr1:103011102-103011236	NONHSAT004876
4	lnc-COL11A1-3	chr1:103001466-103001649	NONHSAT004876
5	lnc-COL11A1-3	chr1:103037948-103038072	NONHSAT004876
6	lnc-COL11A1-3	chr1:103004701-103004800	NONHSAT004876
7	lnc-COL11A1-3	chr1:103005919-103005946	NONHSAT004876

No data

Extended variants
information (count: 1099 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:1099 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563045190	chr1:102907885-102907886	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs34378782	chr1:102907918-102907919	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs143875755	chr1:102907945-102907946	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs530515978	chr1:102907950-102907951	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs542693231	chr1:102907969-102907970	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs139792912	chr1:102907981-102907982	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs369177980	chr1:102907986-102907987	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs549204617	chr1:102907993-102907994	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs35526831	chr1:102908001-102908002	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs191593578	chr1:102908010-102908011	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs532401876	chr1:102908049-102908050	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs368450902	chr1:102908060-102908061	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs111291002	chr1:102908073-102908074	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs569056457	chr1:102908083-102908084	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs146226673	chr1:102908100-102908101	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs548684223	chr1:102908120-102908121	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs566815105	chr1:102908133-102908134	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs185432214	chr1:102908136-102908137	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs558629975	chr1:102908138-102908139	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs577163139	chr1:102908161-102908162	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs571533203	chr1:102908217-102908218	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs201391835	chr1:102908219-102908220	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs398089476	chr1:102908220-102908221	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs556375709	chr1:102908227-102908228	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs574672811	chr1:102908232-102908233	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs542032468	chr1:102908242-102908243	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs190051346	chr1:102908248-102908249	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs181699672	chr1:102908274-102908275	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs540228548	chr1:102908281-102908282	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs114425374	chr1:102908287-102908288	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs532482315	chr1:102908318-102908319	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs544495365	chr1:102908330-102908331	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs116470569	chr1:102908344-102908345	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs567621327	chr1:102908354-102908355	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs377012020	chr1:102908355-102908356	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs556560000	chr1:102908356-102908357	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs550947838	chr1:102908357-102908358	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs199910640	chr1:102908358-102908359	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs371928494	chr1:102908361-102908362	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs372350775	chr1:102908364-102908365	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs72723353	chr1:102908381-102908382	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs552192057	chr1:102908395-102908396	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs36083347	chr1:102908397-102908398	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs547880859	chr1:102938633-102938634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs114227373	chr1:102938643-102938644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs549977618	chr1:102938660-102938661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs72998310	chr1:102938668-102938669	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs551828206	chr1:102938685-102938686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs570324845	chr1:102938689-102938690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs12565501	chr1:102938713-102938714	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
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
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	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
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Colorectal cancer	16774939	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Lung cancer	17086460	CNVD
Gastric cancer	16891809	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:102907800-102908400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:102938600-102939000	Enhancers	Fetal Brain Male	brain
3	chr1:102944600-102945000	Enhancers	Dnd41	blood
4	chr1:102945000-102946000	Weak transcription	Dnd41	blood
5	chr1:102946200-102946400	Enhancers	Dnd41	blood
6	chr1:102954000-102954400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr1:102959800-102962200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:103011200-103012000	Enhancers	Fetal Stomach	stomach
9	chr1:103029000-103029800	Active TSS	Primary B cells from cord blood	blood
10	chr1:103029800-103030000	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr1:103051400-103052000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:103051800-103052200	Enhancers	Dnd41	blood
13	chr1:103051800-103053600	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr1:103052000-103052400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:103052400-103053600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:103053600-103054200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr1:103053600-103054200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr1:103054200-103054400	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr1:103054200-103054400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:103075200-103075600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:103075600-103077600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:103076400-103076800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:103076800-103079800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:103077600-103079600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:103079200-103080000	Enhancers	Adipose Nuclei	Adipose
26	chr1:103079800-103080400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:103086400-103087800	Enhancers	Dnd41	blood
28	chr1:103088000-103088600	Enhancers	Fetal Stomach	stomach
29	chr1:103088200-103088800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:103088600-103090400	Weak transcription	Fetal Stomach	stomach
31	chr1:103088800-103095600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr1:103090400-103090800	Enhancers	Fetal Stomach	stomach
33	chr1:103090800-103091800	Weak transcription	Fetal Stomach	stomach
34	chr1:103091800-103093600	Enhancers	Fetal Stomach	stomach
35	chr1:103093000-103093600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:103093000-103093600	Enhancers	Fetal Lung	lung
37	chr1:103093400-103093600	Enhancers	Brain Substantia Nigra	brain
38	chr1:103093400-103094000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr1:103093600-103093800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr1:103093600-103093800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr1:103093600-103094000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr1:103093600-103094000	Active TSS	Fetal Stomach	stomach
43	chr1:103093600-103094000	Active TSS	HSMMtube	muscle
44	chr1:103093600-103094200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr1:103093600-103094200	Active TSS	Brain Angular Gyrus	brain
46	chr1:103093600-103094200	Active TSS	Brain Anterior Caudate	brain
47	chr1:103093600-103094200	Active TSS	Brain Cingulate Gyrus	brain
48	chr1:103093600-103094200	Active TSS	Brain Hippocampus Middle	brain
49	chr1:103093600-103094200	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr1:103093600-103094200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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