Variant report

Variant	nsv523009
Chromosome Location	chr1:173305632-173324296
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	chr1:173324251-173324661	K562	blood:	n/a	n/a
2	ATF1	chr1:173306443-173306581	K562	blood:	n/a	n/a
3	ATF1	chr1:173308138-173308269	K562	blood:	n/a	n/a
4	ATF1	chr1:173324268-173324715	K562	blood:	n/a	n/a
5	ATF2	chr1:173324200-173325181	GM12878	blood:	n/a	n/a
6	ATF2	chr1:173324196-173325202	GM12878	blood:	n/a	n/a
7	ATF3	chr1:173324293-173324737	K562	blood:	n/a	n/a
8	BATF	chr1:173324147-173324947	GM12878	blood:	n/a	chr1:173324534-173324545
9	BCLAF1	chr1:173324289-173325047	GM12878	blood:	n/a	chr1:173324548-173324557 chr1:173324774-173324783
10	BHLHE40	chr1:173308202-173308279	K562	blood:	n/a	n/a
11	CBX3	chr1:173321759-173322172	K562	blood:	n/a	n/a
12	CBX3	chr1:173321801-173322132	K562	blood:	n/a	n/a
13	CCNT2	chr1:173324264-173324773	K562	blood:	n/a	n/a
14	CEBPB	chr1:173324279-173324718	K562	blood:	n/a	n/a
15	CEBPB	chr1:173313524-173313906	HepG2	liver:	n/a	chr1:173313716-173313727
16	CEBPB	chr1:173313689-173313728	K562	blood:	n/a	chr1:173313716-173313727
17	CEBPB	chr1:173322668-173322868	IMR90	lung:	n/a	chr1:173322669-173322682 chr1:173322773-173322790
18	CEBPB	chr1:173321942-173321968	H1-hESC	embryonic stem cell:	n/a	n/a
19	CEBPB	chr1:173313576-173313855	A549	lung:	n/a	chr1:173313716-173313727
20	CEBPB	chr1:173313574-173313784	HepG2	liver:	n/a	chr1:173313716-173313727
21	CEBPB	chr1:173310491-173310806	IMR90	lung:	n/a	n/a
22	CEBPB	chr1:173311984-173312249	IMR90	lung:	n/a	n/a
23	CEBPD	chr1:173324279-173324793	K562	blood:	n/a	n/a
24	CEBPD	chr1:173324283-173324755	K562	blood:	n/a	n/a
25	CTCF	chr1:173310740-173310890	GM12869	blood:	n/a	n/a
26	CUX1	chr1:173324069-173324597	K562	blood:	n/a	n/a
27	E2F4	chr1:173310567-173310584	MCF10A-Er-Src	breast:	n/a	n/a
28	ELK1	chr1:173324073-173324085	GM12878	blood:	n/a	n/a
29	EP300	chr1:173310421-173310750	SK-N-SH_RA	brain:	n/a	n/a
30	EP300	chr1:173324276-173324777	K562	blood:	n/a	n/a
31	EP300	chr1:173321893-173322140	K562	blood:	n/a	n/a
32	EP300	chr1:173310369-173310841	SK-N-SH_RA	brain:	n/a	n/a
33	EP300	chr1:173324294-173326019	SK-N-SH	brain:	n/a	chr1:173324769-173324783
34	EP300	chr1:173310178-173311057	SK-N-SH	brain:	n/a	n/a
35	EP300	chr1:173324260-173325297	GM12878	blood:	n/a	chr1:173324769-173324783
36	FOS	chr1:173310459-173310772	MCF10A-Er-Src	breast:	n/a	n/a
37	FOS	chr1:173315187-173315423	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr1:173310460-173310754	MCF10A-Er-Src	breast:	n/a	n/a
39	FOS	chr1:173324270-173324825	K562	blood:	n/a	chr1:173324532-173324544 chr1:173324533-173324543 chr1:173324534-173324542
40	FOS	chr1:173310486-173310703	MCF10A-Er-Src	breast:	n/a	n/a
41	FOS	chr1:173310460-173310775	MCF10A-Er-Src	breast:	n/a	n/a
42	FOSL1	chr1:173324229-173324711	K562	blood:	n/a	chr1:173324532-173324543 chr1:173324532-173324544 chr1:173324533-173324543 chr1:173324534-173324542
43	FOSL2	chr1:173324060-173325921	SK-N-SH	brain:	n/a	chr1:173324532-173324544 chr1:173324533-173324543 chr1:173324534-173324542
44	FOSL2	chr1:173310298-173310903	SK-N-SH	brain:	n/a	n/a
45	FOXM1	chr1:173324190-173325121	GM12878	blood:	n/a	n/a
46	FOXM1	chr1:173324268-173325081	GM12878	blood:	n/a	n/a
47	GATA1	chr1:173323837-173325040	K562	blood:	n/a	n/a
48	GATA1	chr1:173324261-173324931	PBDE	blood:	n/a	n/a
49	GATA2	chr1:173324272-173324827	K562	blood:	n/a	n/a
50	GATA3	chr1:173316617-173316959	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:173321113..173322636-chr1:173324721..173327158,2	K562	blood:
2	chr1:173309355..173311002-chr6:166669420..166672417,2	MCF-7	breast:
3	chr1:173310785..173313074-chr1:173313117..173314644,2	K562	blood:
4	chr1:173299256..173302223-chr1:173313691..173316429,3	K562	blood:
5	chr1:173306339..173310503-chr1:173312166..173315307,4	K562	blood:
6	chr1:173323008..173324806-chr1:173328426..173331256,3	K562	blood:
7	chr1:173299087..173302373-chr1:173303327..173305887,3	K562	blood:
8	chr1:173306339..173310503-chr1:173312166..173315307,4	K562	blood:
9	chr1:173303119..173305248-chr1:173306180..173308687,3	K562	blood:
10	chr1:173310785..173313074-chr1:173313117..173314644,2	K562	blood:
11	chr1:173299888..173302293-chr1:173313328..173315226,3	K562	blood:
12	chr1:173304740..173307476-chr1:173792636..173795430,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRDX6-4	chr1:173320828-173321143	NONHSAT007630

Variant related genes	Relation type
ENSG00000232751	TF binding region
ENSG00000120334	chromatin interactions
ENSG00000117593	chromatin interactions

Extended variants
information (count: 616 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:616 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4298771	chr1:173305632-173305633	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs535381937	chr1:173305680-173305681	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs557008804	chr1:173305685-173305686	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs575475129	chr1:173305730-173305731	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs546762304	chr1:173305795-173305796	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs545727132	chr1:173305802-173305803	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs564297913	chr1:173305825-173305826	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs76267274	chr1:173305838-173305839	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs540286731	chr1:173305855-173305856	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs117788164	chr1:173305895-173305896	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs528863359	chr1:173305971-173305972	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs372546697	chr1:173305982-173305983	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs77265963	chr1:173306023-173306024	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs200460739	chr1:173306024-173306025	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs61826686	chr1:173306025-173306026	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs528915006	chr1:173306036-173306037	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs185176240	chr1:173306040-173306041	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs71111060	chr1:173306054-173306055	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs397981978	chr1:173306061-173306062	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs563852742	chr1:173306276-173306277	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs140613896	chr1:173306359-173306360	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs552535605	chr1:173306452-173306453	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs570670380	chr1:173306531-173306532	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs551363533	chr1:173306545-173306546	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs150049818	chr1:173306569-173306570	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs546660241	chr1:173306633-173306634	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs568130595	chr1:173306640-173306641	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs6681482	chr1:173306646-173306647	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs58307514	chr1:173306651-173306652	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs530583300	chr1:173306654-173306655	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs569099457	chr1:173306725-173306726	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs539680425	chr1:173306741-173306742	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs537608963	chr1:173306748-173306749	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs557673959	chr1:173306814-173306815	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs573049503	chr1:173306840-173306841	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs550451430	chr1:173306854-173306855	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs540347903	chr1:173306883-173306884	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs555532578	chr1:173306892-173306893	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs573754383	chr1:173306903-173306904	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs145378796	chr1:173306915-173306916	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs190967533	chr1:173306919-173306920	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs531121997	chr1:173306982-173306983	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs546430769	chr1:173307039-173307040	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs564362692	chr1:173307078-173307079	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs12142973	chr1:173307079-173307080	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs182683923	chr1:173307100-173307101	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs6681901	chr1:173307106-173307107	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs371697930	chr1:173307156-173307157	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs529378548	chr1:173307158-173307159	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs189045389	chr1:173307159-173307160	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21509527	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173299200-173310000	Weak transcription	HSMMtube	muscle
2	chr1:173299200-173311200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr1:173299200-173316600	Weak transcription	Brain Angular Gyrus	brain
4	chr1:173299800-173316600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:173300600-173329200	Weak transcription	Primary T cells from cord blood	blood
6	chr1:173301000-173309400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:173301000-173310600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr1:173301200-173306200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr1:173301400-173321200	Weak transcription	Ovary	ovary
10	chr1:173301600-173306200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:173301600-173311000	Weak transcription	Gastric	stomach
12	chr1:173301800-173310200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:173303000-173310000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:173303000-173310000	Weak transcription	NHDF-Ad	bronchial
15	chr1:173303200-173306400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:173305800-173307200	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr1:173306200-173307000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:173306400-173307200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:173307000-173307400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:173307200-173307600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr1:173307200-173309000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:173307400-173307600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:173307600-173308000	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr1:173307600-173309600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:173309000-173309200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:173309000-173309400	Enhancers	Stomach Mucosa	stomach
27	chr1:173309000-173310000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr1:173309000-173312400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:173309200-173324600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:173309400-173309600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:173309600-173310000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:173309600-173311200	Enhancers	NH-A	brain
33	chr1:173309600-173312000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:173310000-173311200	Enhancers	NHDF-Ad	bronchial
35	chr1:173310000-173311200	Enhancers	Osteobl	bone
36	chr1:173310000-173311400	Enhancers	Muscle Satellite Cultured Cells	--
37	chr1:173310000-173311400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:173310000-173311600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr1:173310000-173311800	Enhancers	HSMMtube	muscle
40	chr1:173310000-173312000	Enhancers	HSMM	muscle
41	chr1:173310200-173311400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr1:173310200-173312000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr1:173310400-173311200	Enhancers	Right Atrium	heart
44	chr1:173310600-173310800	Enhancers	Stomach Smooth Muscle	stomach
45	chr1:173310600-173311200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr1:173310600-173311200	Enhancers	Psoas Muscle	Psoas
47	chr1:173310800-173311200	Enhancers	Colon Smooth Muscle	Colon
48	chr1:173310800-173311400	Enhancers	NHLF	lung
49	chr1:173310800-173311600	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr1:173311000-173311400	Enhancers	Gastric	stomach

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