Variant report

Variant	nsv871071
Chromosome Location	chr1:103471962-103509323
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	ARID3A	chr1:103502292-103502351	K562	blood:	n/a	n/a
2	CEBPB	chr1:103489916-103490117	HepG2	liver:	n/a	chr1:103489991-103490002 chr1:103489991-103490000
3	CTCF	chr1:103489061-103489081	Fibrobl	skin:	n/a	n/a
4	ELK1	chr1:103474216-103474272	GM12878	blood:	n/a	n/a
5	EP300	chr1:103482033-103482177	K562	blood:	n/a	chr1:103482034-103482043
6	EP300	chr1:103495066-103495343	SK-N-SH_RA	brain:	n/a	n/a
7	EP300	chr1:103497514-103497813	SK-N-SH_RA	brain:	n/a	chr1:103497580-103497588 chr1:103497645-103497652
8	FAM48A	chr1:103481060-103481095	GM12878	blood:	n/a	n/a
9	GATA3	chr1:103500817-103500879	SH-SY5Y	brain:	n/a	n/a
10	GATA3	chr1:103495167-103495348	SH-SY5Y	brain:	n/a	n/a
11	GATA3	chr1:103483910-103484121	SH-SY5Y	brain:	n/a	chr1:103483910-103483926 chr1:103484011-103484019 chr1:103484008-103484021 chr1:103483984-103483991 chr1:103483911-103483921 chr1:103484010-103484019 chr1:103483957-103483973 chr1:103483959-103483971 chr1:103484012-103484019
12	JUND	chr1:103498509-103498704	H1-hESC	embryonic stem cell:	n/a	n/a
13	MAFF	chr1:103500871-103501071	HepG2	liver:	n/a	chr1:103500984-103501002
14	MAFF	chr1:103500931-103500933	K562	blood:	n/a	n/a
15	MAFK	chr1:103500893-103501127	IMR90	lung:	n/a	chr1:103500986-103500997 chr1:103500986-103500997 chr1:103500987-103500998 chr1:103500986-103501001 chr1:103500985-103500999 chr1:103500986-103501002
16	MAFK	chr1:103500869-103501153	HepG2	liver:	n/a	chr1:103500986-103500997 chr1:103500986-103500997 chr1:103500987-103500998 chr1:103500986-103501001 chr1:103500985-103500999 chr1:103500986-103501002
17	MAFK	chr1:103488469-103488807	HepG2	liver:	n/a	chr1:103488748-103488768
18	MAFK	chr1:103488526-103488726	IMR90	lung:	n/a	n/a
19	MAFK	chr1:103500873-103501086	HepG2	liver:	n/a	chr1:103500986-103500997 chr1:103500986-103500997 chr1:103500987-103500998 chr1:103500986-103501001 chr1:103500985-103500999 chr1:103500986-103501002
20	MAX	chr1:103498532-103498732	NB4	blood:	n/a	n/a
21	MAZ	chr1:103477655-103477827	HepG2	liver:	n/a	n/a
22	MXI1	chr1:103476805-103476816	K562	blood:	n/a	n/a
23	NFYA	chr1:103491625-103491853	GM12878	blood:	n/a	n/a
24	POLR2A	chr1:103498773-103498930	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr1:103497360-103497385	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr1:103489703-103489763	H1-hESC	embryonic stem cell:	n/a	n/a
27	STAT3	chr1:103504306-103504321	MCF10A-Er-Src	breast:	n/a	n/a
28	STAT3	chr1:103491597-103491691	MCF10A-Er-Src	breast:	n/a	n/a
29	STAT3	chr1:103483766-103483976	MCF10A-Er-Src	breast:	n/a	n/a
30	TCF7L2	chr1:103491184-103491804	PANC-1	pancreas:	n/a	chr1:103491573-103491582

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:103471408..103474127-chr1:103476869..103478860,2	MCF-7	breast:

Variant related genes	Relation type
COL11A1	TF binding region
ENSG00000060718	chromatin interactions

Extended variants
information (count: 1576 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:1576 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12035138	chr1:103471962-103471963	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs368695641	chr1:103471971-103471972	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554285548	chr1:103471982-103471983	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553656883	chr1:103472021-103472022	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565974376	chr1:103472074-103472075	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4013849	chr1:103472111-103472112	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577843025	chr1:103472116-103472117	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537056569	chr1:103472144-103472145	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12127722	chr1:103472150-103472151	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12742130	chr1:103472151-103472152	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs192263540	chr1:103472156-103472157	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576148464	chr1:103472255-103472256	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12046276	chr1:103472257-103472258	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543428541	chr1:103472286-103472287	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556921544	chr1:103472294-103472295	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555468926	chr1:103472351-103472352	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12046304	chr1:103472363-103472364	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573628872	chr1:103472373-103472374	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541630822	chr1:103472375-103472376	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12046308	chr1:103472382-103472383	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12742440	chr1:103472405-103472406	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs376978831	chr1:103472427-103472428	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533447017	chr1:103472429-103472430	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2622879	chr1:103472469-103472470	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs182880032	chr1:103472480-103472481	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188206621	chr1:103472575-103472576	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549087687	chr1:103472599-103472600	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369959817	chr1:103472629-103472630	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561456888	chr1:103472690-103472691	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7532476	chr1:103472725-103472726	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs547572169	chr1:103472799-103472800	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565929275	chr1:103472818-103472819	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539632439	chr1:103472875-103472876	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551732790	chr1:103472887-103472888	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2622880	chr1:103472902-103472903	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs116672066	chr1:103472916-103472917	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2622881	chr1:103472947-103472948	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs185441909	chr1:103472967-103472968	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534377069	chr1:103473037-103473038	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs4553219	chr1:103473064-103473065	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565464928	chr1:103473139-103473140	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371895033	chr1:103473140-103473141	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532822798	chr1:103473141-103473142	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553032578	chr1:103473142-103473143	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557272777	chr1:103473167-103473168	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551434796	chr1:103473177-103473178	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545183175	chr1:103473184-103473185	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563668541	chr1:103473217-103473218	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113491456	chr1:103473231-103473232	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543024145	chr1:103473237-103473238	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	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
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Lung cancer	17086460	CNVD
Gastric cancer	16891809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:103369600-103498600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:103386200-103482000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:103415800-103485200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:103423800-103476000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:103425000-103478000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr1:103446800-103497800	Weak transcription	HSMM	muscle
7	chr1:103449200-103545200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:103453400-103490000	Weak transcription	NH-A	brain
9	chr1:103460200-103516400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:103468400-103478600	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr1:103469800-103486600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr1:103471200-103475000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:103471400-103476600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:103471400-103486600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:103471800-103474400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:103474400-103476800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:103474800-103483600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:103475000-103476200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:103475800-103516600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:103476200-103486800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:103476600-103477600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:103476800-103477000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:103477000-103478200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:103477600-103484800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:103478200-103479800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:103478600-103479400	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr1:103479400-103487000	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr1:103479800-103480600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:103480200-103480400	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr1:103480600-103483200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:103483000-103484000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:103483200-103485200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:103484000-103484600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:103484600-103484800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:103484800-103486600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:103485200-103486800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:103485200-103487000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:103486600-103487600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:103486600-103489200	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr1:103486600-103491800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr1:103486800-103489600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr1:103486800-103491200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr1:103487000-103491600	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr1:103487000-103492200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr1:103487600-103493600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr1:103488000-103490800	Weak transcription	Brain Germinal Matrix	brain
47	chr1:103489200-103516400	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr1:103489600-103506000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr1:103490000-103491600	Strong transcription	NH-A	brain
50	chr1:103490800-103491200	Enhancers	Brain Germinal Matrix	brain

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