Variant report

Variant	nsv518196
Chromosome Location	chr1:92717666-92727140
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	CEBPB	chr1:92726352-92726563	HepG2	liver:	n/a	chr1:92726435-92726448 chr1:92726435-92726446 chr1:92726437-92726446 chr1:92726435-92726448 chr1:92726437-92726446 chr1:92726437-92726446 chr1:92726437-92726446 chr1:92726437-92726448
2	CEBPB	chr1:92726400-92726574	K562	blood:	n/a	chr1:92726435-92726448 chr1:92726435-92726446 chr1:92726437-92726446 chr1:92726435-92726448 chr1:92726437-92726446 chr1:92726437-92726446 chr1:92726437-92726446 chr1:92726437-92726448
3	CEBPB	chr1:92726346-92726574	IMR90	lung:	n/a	chr1:92726435-92726448 chr1:92726435-92726446 chr1:92726437-92726446 chr1:92726435-92726448 chr1:92726437-92726446 chr1:92726437-92726446 chr1:92726437-92726446 chr1:92726437-92726448
4	CEBPB	chr1:92717841-92718018	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr1:92721315-92721367	GM10266	blood:	n/a	n/a
6	CTCF	chr1:92725428-92725455	Kidney_OC	kidney:	n/a	n/a
7	CTCF	chr1:92717829-92717929	ProgFib	skin:	n/a	n/a
8	E2F4	chr1:92725040-92725240	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr1:92724898-92725298	MCF10A-Er-Src	breast:	n/a	chr1:92725074-92725085
10	FOS	chr1:92724935-92725211	MCF10A-Er-Src	breast:	n/a	chr1:92725074-92725085
11	FOS	chr1:92724895-92725322	MCF10A-Er-Src	breast:	n/a	chr1:92725074-92725085
12	FOS	chr1:92724998-92725254	HUVEC	blood vessel:	n/a	chr1:92725074-92725085
13	FOS	chr1:92724914-92725267	MCF10A-Er-Src	breast:	n/a	chr1:92725074-92725085
14	IRF1	chr1:92726429-92726430	K562	blood:	n/a	n/a
15	MAFF	chr1:92719201-92719372	HepG2	liver:	n/a	n/a
16	MAFK	chr1:92719217-92719358	HepG2	liver:	n/a	n/a
17	MAFK	chr1:92719259-92719421	HepG2	liver:	n/a	n/a
18	POLR2A	chr1:92718148-92718332	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr1:92724919-92725115	MCF10A-Er-Src	breast:	n/a	n/a
20	STAT3	chr1:92724957-92725183	MCF10A-Er-Src	breast:	n/a	chr1:92725065-92725073
21	STAT3	chr1:92724870-92725114	MCF10A-Er-Src	breast:	n/a	chr1:92725065-92725073
22	STAT3	chr1:92725044-92725133	MCF10A-Er-Src	breast:	n/a	chr1:92725065-92725073
23	STAT3	chr1:92724861-92725153	MCF10A-Er-Src	breast:	n/a	chr1:92725065-92725073

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:92724491..92726278-chr1:92728631..92730987,2	K562	blood:
2	chr1:92726438..92729412-chr1:92763997..92765974,2	K562	blood:

Variant related genes	Relation type
GLMN	TF binding region
ENSG00000122484	chromatin interactions
ENSG00000174842	chromatin interactions

Extended variants
information (count: 348 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:348 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3103174	chr1:92717666-92717667	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs369888369	chr1:92717829-92717830	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs138784961	chr1:92717846-92717847	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs535048502	chr1:92717900-92717901	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs112869547	chr1:92717907-92717908	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs140388981	chr1:92717932-92717933	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs187497020	chr1:92717964-92717965	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs533512015	chr1:92717981-92717982	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs191836054	chr1:92718076-92718077	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574761598	chr1:92718119-92718120	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557499709	chr1:92718130-92718131	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147782229	chr1:92718146-92718147	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182461193	chr1:92718190-92718191	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs187535016	chr1:92718200-92718201	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs369351781	chr1:92718201-92718202	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs557706773	chr1:92718240-92718241	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs566788233	chr1:92718262-92718263	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs557586546	chr1:92718268-92718269	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs371852598	chr1:92718307-92718308	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs375805349	chr1:92718407-92718408	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs192062754	chr1:92718408-92718409	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs561323070	chr1:92718429-92718430	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs376593180	chr1:92718473-92718474	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs573319610	chr1:92718539-92718540	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs185016773	chr1:92718618-92718619	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs562248942	chr1:92718642-92718643	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs532932593	chr1:92718745-92718746	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs11449710	chr1:92718753-92718754	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs397773962	chr1:92718761-92718762	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs201465240	chr1:92718762-92718763	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs190650468	chr1:92718788-92718789	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs564559079	chr1:92718795-92718796	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs528760836	chr1:92718820-92718821	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs368965512	chr1:92718828-92718829	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs373219545	chr1:92718854-92718855	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs377023806	chr1:92718925-92718926	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs369629445	chr1:92718939-92718940	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568423565	chr1:92718956-92718957	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs535852873	chr1:92718961-92718962	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs551039983	chr1:92718962-92718963	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs193046883	chr1:92718980-92718981	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534546841	chr1:92719068-92719069	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs557909850	chr1:92719080-92719081	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs543775845	chr1:92719094-92719095	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs184534601	chr1:92719107-92719108	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs533805214	chr1:92719159-92719160	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs577522392	chr1:92719176-92719177	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs555253820	chr1:92719183-92719184	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs575608069	chr1:92719184-92719185	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs573255733	chr1:92719282-92719283	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Prostate cancer	19156837	CNVD
Autism	17483303	CNVD
Malignant melanoma	17260012	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:387 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92705600-92726800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:92705800-92729200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr1:92707200-92764000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:92708200-92741200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr1:92709000-92718800	Weak transcription	Lung	lung
6	chr1:92709000-92737200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr1:92709000-92762800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr1:92709200-92718800	Weak transcription	Pancreas	Pancrea
9	chr1:92709400-92735800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr1:92709600-92730800	Weak transcription	Hela-S3	cervix
11	chr1:92710000-92717800	Weak transcription	Brain Germinal Matrix	brain
12	chr1:92710000-92737600	Weak transcription	HSMM	muscle
13	chr1:92710000-92745200	Weak transcription	Brain Hippocampus Middle	brain
14	chr1:92710200-92717800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:92710200-92717800	Weak transcription	Placenta	Placenta
16	chr1:92710200-92718000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr1:92710200-92718800	Weak transcription	Left Ventricle	heart
18	chr1:92710200-92718800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr1:92710200-92739400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr1:92710400-92718600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr1:92710400-92724800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:92710600-92718400	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr1:92710600-92718400	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr1:92710600-92718600	Weak transcription	Fetal Muscle Trunk	muscle
25	chr1:92710600-92718800	Weak transcription	Aorta	Aorta
26	chr1:92710600-92718800	Weak transcription	Fetal Intestine Small	intestine
27	chr1:92710600-92718800	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr1:92710600-92719000	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr1:92710600-92725000	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr1:92710600-92726000	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr1:92710600-92726200	Weak transcription	Right Ventricle	heart
32	chr1:92710600-92726200	Weak transcription	Stomach Smooth Muscle	stomach
33	chr1:92710600-92726600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr1:92710600-92753200	Weak transcription	Small Intestine	intestine
35	chr1:92710600-92762000	Weak transcription	Fetal Brain Male	brain
36	chr1:92710600-92763400	Weak transcription	Brain Angular Gyrus	brain
37	chr1:92710600-92764000	Weak transcription	Gastric	stomach
38	chr1:92710800-92717800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr1:92710800-92718800	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr1:92710800-92726800	Weak transcription	NH-A	brain
41	chr1:92711000-92717800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr1:92711000-92720600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr1:92711000-92721600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:92711000-92763600	Weak transcription	HSMMtube	muscle
45	chr1:92711200-92717800	Weak transcription	Fetal Brain Female	brain
46	chr1:92711200-92718400	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr1:92711200-92718400	Weak transcription	Rectal Smooth Muscle	rectum
48	chr1:92711200-92718600	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr1:92711200-92718800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr1:92711200-92726400	Weak transcription	A549	lung

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