Variant report

Variant	nsv870464
Chromosome Location	chr1:102594884-102816541
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:7)
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	chr1:54418703..54421611-chr1:102613977..102616372,3	MCF-7	breast:
2	chr1:102685538..102686359-chr1:201441216..201441918,2	MCF-7	breast:
3	chr1:102580503..102583097-chr1:102602225..102604313,2	K562	blood:
4	chr1:102816532..102818032-chr6:130363143..130365830,2	MCF-7	breast:
5	chr1:102285335..102286320-chr1:102656866..102657699,4	MCF-7	breast:
6	chr1:102459133..102459923-chr1:102657241..102657780,2	MCF-7	breast:
7	chr1:102701228..102703682-chr1:102706014..102708929,2	K562	blood:
8	chr1:102701228..102703682-chr1:102706014..102708929,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OLFM3-3	chr1:102625349-102625395	NONHSAT004870
2	lnc-OLFM3-1	chr1:102775826-102775884	XLOC_000943
3	lnc-OLFM3-3	chr1:102626679-102626773	NONHSAT004870
4	lnc-OLFM3-1	chr1:102775825-102775884	XLOC_000943
5	lnc-OLFM3-3	chr1:102627638-102627774	NONHSAT004870
6	lnc-OLFM3-1	chr1:102665295-102665553	XLOC_000943
7	lnc-OLFM3-3	chr1:102625506-102625565	NONHSAT004870

No data

Variant related genes	Relation type
C1orf103	miRNA target sites
MEST	miRNA target sites

Extended variants
information (count: 1074 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:1074 , 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	rs539357091	chr1:102597020-102597021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs112073640	chr1:102597032-102597033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs575822615	chr1:102597039-102597040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543148528	chr1:102597099-102597100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191670761	chr1:102597115-102597116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553988805	chr1:102597153-102597154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs143114674	chr1:102597158-102597159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs145746315	chr1:102597174-102597175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567933194	chr1:102597808-102597809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544968582	chr1:102597863-102597864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs137904448	chr1:102597924-102597925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs575452512	chr1:102597948-102597949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs542779286	chr1:102597997-102597998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561082662	chr1:102598010-102598011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs182740727	chr1:102598072-102598073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs3008756	chr1:102598108-102598109	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs186557771	chr1:102598123-102598124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs565274930	chr1:102598164-102598165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs532578204	chr1:102598176-102598177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs550707845	chr1:102598196-102598197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs142329282	chr1:102598208-102598209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536564145	chr1:102598212-102598213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs112286436	chr1:102598245-102598246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566754042	chr1:102598264-102598265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs546064075	chr1:102598290-102598291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs534411102	chr1:102598299-102598300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs111797412	chr1:102598301-102598302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs112798859	chr1:102598305-102598306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs538582232	chr1:102598312-102598313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs138424328	chr1:102598340-102598341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs191740631	chr1:102598366-102598367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs149616743	chr1:102598382-102598383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs561041514	chr1:102598417-102598418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs371245645	chr1:102598419-102598420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs573120308	chr1:102598427-102598428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs11164395	chr1:102598469-102598470	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs368241231	chr1:102598486-102598487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs12409104	chr1:102598488-102598489	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs376027083	chr1:102598500-102598501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs532499435	chr1:102598574-102598575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs183828102	chr1:102598585-102598586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs561359520	chr1:102602624-102602625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs370783854	chr1:102602625-102602626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs189820951	chr1:102602628-102602629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs371200040	chr1:102602630-102602631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs372252984	chr1:102602665-102602666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs544337831	chr1:102602765-102602766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs369055768	chr1:102602766-102602767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs181878328	chr1:102602781-102602782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs551294554	chr1:102602788-102602789	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
low-grade B-cell lymphoma tumor	18367492	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
Schizophrenia	20967226	CNVD
Schizophrenia	21346763	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:102597000-102597200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:102597800-102598000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:102597800-102598600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:102598000-102598200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:102602600-102603000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:102603800-102604200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:102612000-102612200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr1:102612600-102613200	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr1:102612800-102613200	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr1:102612800-102613200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr1:102612800-102613400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr1:102612800-102613400	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr1:102613000-102613600	Enhancers	H9 Cell Line	embryonic stem cell
14	chr1:102613200-102613400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr1:102619600-102619800	Enhancers	Fetal Intestine Small	intestine
16	chr1:102619800-102620800	Weak transcription	Fetal Intestine Small	intestine
17	chr1:102620200-102620400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:102620600-102621800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:102620800-102621600	Enhancers	Fetal Intestine Large	intestine
20	chr1:102620800-102622000	Enhancers	Fetal Intestine Small	intestine
21	chr1:102621800-102622200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:102622200-102626600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:102626200-102627200	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr1:102626400-102628400	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr1:102626400-102628400	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr1:102626600-102627000	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr1:102626600-102627200	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr1:102626600-102627400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:102627200-102628200	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr1:102627400-102628200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:102628200-102628400	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr1:102634200-102634800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:102648600-102649200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:102649200-102649600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:102649600-102651400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:102666400-102666800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
37	chr1:102666400-102666800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
38	chr1:102667000-102667400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr1:102676600-102677000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr1:102676800-102677600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:102698600-102699000	Enhancers	Dnd41	blood
42	chr1:102699000-102700400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr1:102699600-102700800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr1:102700400-102700800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr1:102700400-102701000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:102707200-102707800	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr1:102707200-102707800	Enhancers	GM12878-XiMat	blood
48	chr1:102718000-102719200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr1:102718400-102719400	Enhancers	Fetal Heart	heart
50	chr1:102728400-102728800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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