Variant report

Variant	nsv870369
Chromosome Location	chr1:158758091-158796383
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:416)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:416 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:158769460-158770024	K562	blood:	n/a	n/a
2	ARID3A	chr1:158788979-158789707	K562	blood:	n/a	n/a
3	ATF1	chr1:158789343-158789721	K562	blood:	n/a	n/a
4	ATF1	chr1:158769556-158769886	K562	blood:	n/a	n/a
5	ATF2	chr1:158789360-158789737	GM12878	blood:	n/a	n/a
6	ATF3	chr1:158769474-158769844	K562	blood:	n/a	n/a
7	ATF3	chr1:158789352-158789686	K562	blood:	n/a	n/a
8	BHLHE40	chr1:158788081-158788271	K562	blood:	n/a	n/a
9	BHLHE40	chr1:158788978-158789714	K562	blood:	n/a	n/a
10	CBX3	chr1:158788999-158790050	K562	blood:	n/a	n/a
11	CBX3	chr1:158769307-158769963	K562	blood:	n/a	n/a
12	CCNT2	chr1:158789159-158789743	K562	blood:	n/a	n/a
13	CCNT2	chr1:158769560-158769964	K562	blood:	n/a	n/a
14	CEBPB	chr1:158789116-158789734	K562	blood:	n/a	n/a
15	CEBPB	chr1:158779741-158779957	K562	blood:	n/a	n/a
16	CEBPB	chr1:158791602-158791765	K562	blood:	n/a	n/a
17	CEBPB	chr1:158776987-158777344	K562	blood:	n/a	chr1:158777157-158777168 chr1:158777157-158777168
18	CEBPB	chr1:158776989-158777341	IMR90	lung:	n/a	chr1:158777157-158777168 chr1:158777157-158777168
19	CEBPB	chr1:158787677-158787924	K562	blood:	n/a	n/a
20	CEBPB	chr1:158789146-158789635	K562	blood:	n/a	n/a
21	CEBPB	chr1:158769583-158769879	K562	blood:	n/a	n/a
22	CEBPB	chr1:158763468-158763735	H1-hESC	embryonic stem cell:	n/a	n/a
23	CEBPD	chr1:158788918-158789677	K562	blood:	n/a	n/a
24	CEBPD	chr1:158789281-158789737	K562	blood:	n/a	n/a
25	CHD2	chr1:158774947-158775076	K562	blood:	n/a	n/a
26	CTCF	chr1:158763562-158763641	A549	lung:	n/a	n/a
27	CTCF	chr1:158763540-158763690	HepG2	liver:	n/a	n/a
28	CTCF	chr1:158768399-158768521	LNCaP	prostate:	n/a	n/a
29	CTCF	chr1:158763487-158763678	GM19239	blood:	n/a	n/a
30	CTCF	chr1:158768620-158768770	HEK293	kidney:	n/a	n/a
31	CTCF	chr1:158768620-158768770	GM12873	blood:	n/a	n/a
32	CTCF	chr1:158763540-158763690	GM12869	blood:	n/a	n/a
33	CTCF	chr1:158768380-158768530	RPTEC	kidney:	n/a	n/a
34	CTCF	chr1:158763466-158763638	GM10248	blood:	n/a	n/a
35	CTCF	chr1:158763423-158763699	GM12878	blood:	n/a	n/a
36	CTCF	chr1:158768400-158768550	HCPEpiC	choroid plexus:	n/a	n/a
37	CTCF	chr1:158768560-158768710	GM12864	blood:	n/a	n/a
38	CTCF	chr1:158768680-158768830	HMF	breast:	n/a	n/a
39	CTCF	chr1:158763460-158763610	RPTEC	kidney:	n/a	n/a
40	CTCF	chr1:158763363-158763813	K562	blood:	n/a	n/a
41	CTCF	chr1:158763483-158763673	NHEK	skin:	n/a	n/a
42	CTCF	chr1:158768720-158768870	GM12871	blood:	n/a	n/a
43	CTCF	chr1:158763500-158763650	HUVEC	blood vessel:	n/a	n/a
44	CTCF	chr1:158763420-158763570	SAEC	small airway:	n/a	n/a
45	CTCF	chr1:158763476-158763613	GM10266	blood:	n/a	n/a
46	CTCF	chr1:158763440-158763673	GM13977	blood:	n/a	n/a
47	CTCF	chr1:158763460-158763610	HCM	heart:	n/a	n/a
48	CTCF	chr1:158763500-158763650	GM12866	blood:	n/a	n/a
49	CTCF	chr1:158763540-158763690	GM12867	blood:	n/a	n/a
50	CTCF	chr1:158768340-158768490	HMEC	breast:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:158757287..158759072-chr1:158760688..158763230,2	K562	blood:
2	chr1:158768206..158768907-chr1:158968540..158969106,3	MCF-7	breast:
3	chr1:158770831..158772373-chr1:158787697..158790487,2	K562	blood:
4	chr1:158771201..158773385-chr1:158776168..158777671,2	K562	blood:
5	chr1:158757057..158758976-chr1:158767246..158769366,2	K562	blood:
6	chr1:158779601..158781616-chr1:158791201..158793222,2	K562	blood:
7	chr1:158757287..158759072-chr1:158760688..158763230,2	K562	blood:
8	chr1:158771201..158773385-chr1:158776168..158777671,2	K562	blood:
9	chr1:158779601..158781616-chr1:158791201..158793222,2	K562	blood:
10	chr1:158763178..158764363-chr1:158967947..158968721,3	MCF-7	breast:
11	chr1:158770831..158772373-chr1:158787697..158790487,2	K562	blood:
12	chr1:158757057..158758976-chr1:158767246..158769366,2	K562	blood:

No data

Variant related genes	Relation type
MNDA	TF binding region
OR2AQ1P	TF binding region
OR10AA1P	TF binding region

Extended variants
information (count: 1230 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:1230 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545768857	chr1:158760861-158760862	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs564080518	chr1:158760881-158760882	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs34834229	chr1:158760898-158760899	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs576172734	chr1:158760908-158760909	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs562390332	chr1:158761506-158761507	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs576086882	chr1:158761523-158761524	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs543478643	chr1:158761537-158761538	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs369979393	chr1:158762530-158762531	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs571738123	chr1:158762551-158762552	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs113052291	chr1:158762559-158762560	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs543411078	chr1:158762568-158762569	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs553020668	chr1:158763029-158763030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577362172	chr1:158763067-158763068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs539643183	chr1:158763070-158763071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557970780	chr1:158763075-158763076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs115187032	chr1:158763112-158763113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188532822	chr1:158763117-158763118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs562266069	chr1:158763214-158763215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs191731554	chr1:158763290-158763291	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs183959286	chr1:158763342-158763343	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs187931142	chr1:158763361-158763362	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs1102302	chr1:158763366-158763367	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs553662261	chr1:158763408-158763409	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs573568707	chr1:158763451-158763452	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs551591065	chr1:158763528-158763529	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs147805060	chr1:158763537-158763538	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs530691443	chr1:158763547-158763548	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs565322686	chr1:158763550-158763551	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs549229181	chr1:158763595-158763596	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs141213579	chr1:158763669-158763670	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs534564871	chr1:158763671-158763672	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs546237232	chr1:158763761-158763762	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs199784857	chr1:158763769-158763770	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs145267328	chr1:158763775-158763776	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs191233117	chr1:158763776-158763777	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs557910602	chr1:158763786-158763787	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs576201675	chr1:158763806-158763807	Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs147614112	chr1:158763810-158763811	Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs577684475	chr1:158763812-158763813	Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs555984853	chr1:158763883-158763884	Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs543125258	chr1:158763886-158763887	Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs574253887	chr1:158763898-158763899	Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs541411188	chr1:158763913-158763914	Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs12029012	chr1:158763982-158763983	Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs857854	chr1:158763983-158763984	Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs539767140	chr1:158763995-158763996	Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs207460494	chr1:158764000-158764001	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs77126978	chr1:158764015-158764016	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs563791431	chr1:158764030-158764031	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs530693446	chr1:158764121-158764122	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:111)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	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
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
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Type 2 diabetes	19141583	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
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	19287148	CNVD
Glomerulonephritis	19341492	CNVD
Systemic lupus erythematosus	18559452	CNVD
Systemic autoimmune disease	17597778	CNVD
Glomerulonephritis	17008540	CNVD
Glomerulonephritis	16482158	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Breast cancer	21045282	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Follicular lymphoma	18703704	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:173 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158763000-158763600	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr1:158763200-158763600	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr1:158763400-158763600	Active TSS	Primary B cells from cord blood	blood
4	chr1:158763400-158767800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr1:158763600-158763800	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr1:158763600-158765000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr1:158763600-158765000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr1:158763800-158764000	Active TSS	Primary B cells from cord blood	blood
9	chr1:158764000-158764600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:158764000-158765400	Enhancers	Primary B cells from cord blood	blood
11	chr1:158764800-158765600	Enhancers	Adipose Nuclei	Adipose
12	chr1:158765000-158766000	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr1:158765000-158769800	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr1:158765400-158767000	Weak transcription	Primary B cells from cord blood	blood
15	chr1:158766000-158767000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr1:158766800-158767200	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr1:158767000-158767400	Enhancers	Primary B cells from cord blood	blood
18	chr1:158767000-158767600	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr1:158767000-158768600	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr1:158767400-158770600	Weak transcription	Primary B cells from cord blood	blood
21	chr1:158767800-158768200	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr1:158768200-158772200	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr1:158768600-158774200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr1:158769200-158769400	Enhancers	K562	blood
25	chr1:158769400-158769600	Flanking Active TSS	K562	blood
26	chr1:158769400-158770000	Enhancers	Primary hematopoietic stem cells	blood
27	chr1:158769600-158771800	Enhancers	K562	blood
28	chr1:158769800-158770200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr1:158770000-158770200	Active TSS	Primary hematopoietic stem cells	blood
30	chr1:158770000-158772400	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr1:158770200-158770400	Flanking Active TSS	Primary hematopoietic stem cells	blood
32	chr1:158770200-158770600	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr1:158770200-158772000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr1:158770200-158772000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr1:158770400-158770600	Enhancers	Primary hematopoietic stem cells	blood
36	chr1:158770600-158770800	Flanking Active TSS	Primary hematopoietic stem cells	blood
37	chr1:158770600-158772600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
38	chr1:158770600-158772600	Active TSS	Primary B cells from cord blood	blood
39	chr1:158770800-158771800	Enhancers	Primary hematopoietic stem cells	blood
40	chr1:158771800-158772400	Weak transcription	Primary hematopoietic stem cells	blood
41	chr1:158772200-158772600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
42	chr1:158772400-158772800	Active TSS	Primary hematopoietic stem cells	blood
43	chr1:158772600-158773000	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr1:158772600-158773000	Flanking Active TSS	Primary B cells from cord blood	blood
45	chr1:158772600-158774400	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr1:158772800-158774000	Weak transcription	Primary hematopoietic stem cells	blood
47	chr1:158773000-158774200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
48	chr1:158773000-158774400	Active TSS	Primary B cells from cord blood	blood
49	chr1:158774000-158774400	Active TSS	Primary hematopoietic stem cells	blood
50	chr1:158774200-158775000	Enhancers	Primary neutrophils fromperipheralblood	blood

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