Variant report

Variant	nsv470743
Chromosome Location	chr1:158484285-158521392
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:226)
CpG islands
(count:183)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:226 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr1:158504406-158504592	K562	blood:	n/a	n/a
2	BHLHE40	chr1:158504293-158504614	K562	blood:	n/a	n/a
3	CEBPB	chr1:158508750-158508969	K562	blood:	n/a	n/a
4	CEBPB	chr1:158484211-158484348	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr1:158507626-158507887	HepG2	liver:	n/a	chr1:158507765-158507776
6	CTCF	chr1:158496992-158497277	K562	blood:	n/a	n/a
7	CTCF	chr1:158497100-158497250	GM12872	blood:	n/a	n/a
8	CTCF	chr1:158497120-158497270	HCPEpiC	choroid plexus:	n/a	n/a
9	CTCF	chr1:158497090-158497286	Lung_OC	lung:	n/a	n/a
10	CTCF	chr1:158497120-158497270	HCM	heart:	n/a	n/a
11	CTCF	chr1:158497044-158497281	HepG2	liver:	n/a	n/a
12	CTCF	chr1:158497080-158497230	NHDF-neo	bronchial:	n/a	n/a
13	CTCF	chr1:158497120-158497270	NHLF	lung:	n/a	n/a
14	CTCF	chr1:158497100-158497250	SK-N-SH_RA	brain:	n/a	n/a
15	CTCF	chr1:158497100-158497250	HepG2	liver:	n/a	n/a
16	CTCF	chr1:158497080-158497230	GM12801	blood:	n/a	n/a
17	CTCF	chr1:158497080-158497230	GM12867	blood:	n/a	n/a
18	CTCF	chr1:158497100-158497250	HEEpiC	esophagus:	n/a	n/a
19	CTCF	chr1:158497120-158497270	MCF-7	breast:	n/a	n/a
20	CTCF	chr1:158497081-158497323	Kidney_OC	kidney:	n/a	n/a
21	CTCF	chr1:158497080-158497230	HEK293	kidney:	n/a	n/a
22	CTCF	chr1:158497120-158497270	AG09319	gingival:	n/a	n/a
23	CTCF	chr1:158497060-158497288	Hela-S3	cervix:	n/a	n/a
24	CTCF	chr1:158497100-158497250	HFF-Myc	foreskin:	n/a	n/a
25	CTCF	chr1:158497100-158497250	MCF-7	breast:	n/a	n/a
26	CTCF	chr1:158497120-158497270	AG04449	skin:	n/a	n/a
27	CTCF	chr1:158497120-158497270	HCFaa	heart:	n/a	n/a
28	CTCF	chr1:158497120-158497270	GM12866	blood:	n/a	n/a
29	CTCF	chr1:158497100-158497250	AG04450	lung:	n/a	n/a
30	CTCF	chr1:158497100-158497250	GM12868	blood:	n/a	n/a
31	CTCF	chr1:158497120-158497270	HMF	breast:	n/a	n/a
32	CTCF	chr1:158497136-158497230	MCF-7	breast:	n/a	n/a
33	CTCF	chr1:158497120-158497270	AG04450	lung:	n/a	n/a
34	CTCF	chr1:158496960-158497354	A549	lung:	n/a	n/a
35	CTCF	chr1:158497120-158497270	HVMF	connective:	n/a	n/a
36	CTCF	chr1:158497140-158497290	HRPEpiC	eye:	n/a	n/a
37	CTCF	chr1:158497080-158497230	HUVEC	blood vessel:	n/a	n/a
38	CTCF	chr1:158508874-158508947	GM20000	blood:	n/a	n/a
39	CTCF	chr1:158497080-158497230	GM12869	blood:	n/a	n/a
40	CTCF	chr1:158497081-158497237	NHEK	skin:	n/a	n/a
41	CTCF	chr1:158497100-158497250	HA-sp	spinal cord:	n/a	n/a
42	CTCF	chr1:158497340-158497490	GM12864	blood:	n/a	n/a
43	CTCF	chr1:158497100-158497250	Caco-2	colon:	n/a	n/a
44	CTCF	chr1:158497100-158497250	AG09319	gingival:	n/a	n/a
45	CTCF	chr1:158496932-158497427	MCF-7	breast:	n/a	n/a
46	CTCF	chr1:158497123-158497273	GM20000	blood:	n/a	n/a
47	CTCF	chr1:158496854-158497575	A549	lung:	n/a	n/a
48	CTCF	chr1:158497100-158497250	HCPEpiC	choroid plexus:	n/a	n/a
49	CTCF	chr1:158497080-158497230	GM12864	blood:	n/a	n/a
50	CTCF	chr1:158497100-158497250	AG04449	skin:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:158518363-158518413	HEEpiC	esophagus:	n/a
2	chr1:158518363-158518413	PrEC	prostate:	n/a
3	chr1:158517849-158517899	H1-hESC	embryonic stem cell:	embryo
4	chr1:158518363-158518413	GM06990	blood:	n/a
5	chr1:158518363-158518413	PANC-1	pancreas:	n/a
6	chr1:158517849-158517899	ProgFib	skin:	n/a
7	chr1:158517849-158517899	HCF	heart:	n/a
8	chr1:158517489-158517539	AG04450	lung:	fetal
9	chr1:158518363-158518413	H1-hESC	embryonic stem cell:	embryo
10	chr1:158518363-158518413	GM12892	blood:	n/a
11	chr1:158518363-158518413	LNCaP	prostate:	n/a
12	chr1:158517849-158517899	HRCEpiC	kidney:	n/a
13	chr1:158517489-158517539	ECC-1	luminal epithelium:	n/a
14	chr1:158517489-158517539	HCT-116	colon:	n/a
15	chr1:158517849-158517899	AoSMC	blood vessel:	n/a
16	chr1:158518363-158518413	BJ	skin:	n/a
17	chr1:158517489-158517539	HUVEC	blood vessel:	n/a
18	chr1:158517489-158517539	GM06990	blood:	n/a
19	chr1:158518363-158518413	SAEC	small airway:	n/a
20	chr1:158517489-158517539	H1-hESC	embryonic stem cell:	embryo
21	chr1:158517849-158517899	HEK293	kidney:	embryo
22	chr1:158517849-158517899	NB4	blood:	n/a
23	chr1:158518363-158518413	GM12891	blood:	n/a
24	chr1:158518363-158518413	Jurkat	blood:	n/a
25	chr1:158517489-158517539	HEEpiC	esophagus:	n/a
26	chr1:158517489-158517539	SK-N-MC	brain:	n/a
27	chr1:158517849-158517899	GM19239	blood:	n/a
28	chr1:158518363-158518413	ECC-1	luminal epithelium:	n/a
29	chr1:158517489-158517539	AG09319	gingival:	n/a
30	chr1:158517489-158517539	PrEC	prostate:	n/a
31	chr1:158518363-158518413	HPAEpiC	pulmonary alveolar:	n/a
32	chr1:158517489-158517539	GM12891	blood:	n/a
33	chr1:158517849-158517899	SK-N-MC	brain:	n/a
34	chr1:158517489-158517539	AG10803	skin:	n/a
35	chr1:158517489-158517539	AoSMC	blood vessel:	n/a
36	chr1:158517489-158517539	LNCaP	prostate:	n/a
37	chr1:158517849-158517899	HRPEpiC	eye:	n/a
38	chr1:158517849-158517899	Caco-2	colon:	n/a
39	chr1:158517489-158517539	ovcar-3	ovarian:	n/a
40	chr1:158517849-158517899	Hepatocyte	liver:	n/a
41	chr1:158517849-158517899	NHDF-neo	bronchial:	n/a
42	chr1:158517849-158517899	BE2_C	brain:	n/a
43	chr1:158517849-158517899	A549	lung:	n/a
44	chr1:158517489-158517539	HAEpiC	amniotic membrane:	n/a
45	chr1:158517849-158517899	PANC-1	pancreas:	n/a
46	chr1:158518363-158518413	SKMC	muscle:	n/a
47	chr1:158517849-158517899	HNPCEpiC	eye:	n/a
48	chr1:158517849-158517899	BJ	skin:	n/a
49	chr1:158517849-158517899	HMEC	breast:	n/a
50	chr1:158518363-158518413	CMK	blood:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:158508197..158510777-chr1:158515313..158516870,2	K562	blood:
2	chr1:158508197..158510777-chr1:158515313..158516870,2	K562	blood:
3	chr1:158216395..158217146-chr1:158496757..158497397,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR10R2-1	chr1:158484575-158485715	NONHSAT006988

No data

Variant related genes	Relation type
OR10R1P	TF binding region
OR6Y1	TF binding region
ENSG00000231434	TF binding region
OR10R1P	CpG island
OR6Y1	CpG island
ENSG00000231434	CpG island

Extended variants
information (count: 572 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:572 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1418846	chr1:158484285-158484286	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs562089791	chr1:158484359-158484360	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs1418847	chr1:158484378-158484379	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs79623280	chr1:158484429-158484430	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs149721599	chr1:158484457-158484458	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs569246360	chr1:158484460-158484461	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs112781893	chr1:158484465-158484466	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs189554307	chr1:158484504-158484505	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs139646662	chr1:158484505-158484506	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs552845604	chr1:158484506-158484507	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs61641123	chr1:158484558-158484559	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs74626388	chr1:158484598-158484599	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs191246279	chr1:158484656-158484657	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs145541013	chr1:158484665-158484666	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs562356111	chr1:158484686-158484687	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs371016340	chr1:158484780-158484781	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs114699438	chr1:158484932-158484933	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs183830394	chr1:158484949-158484950	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs189811898	chr1:158484968-158484969	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs55845081	chr1:158484972-158484973	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs373811472	chr1:158484976-158484977	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs115068560	chr1:158485058-158485059	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs563343348	chr1:158485098-158485099	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs1873508	chr1:158485126-158485127	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs527329089	chr1:158485137-158485138	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs147001191	chr1:158485165-158485166	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs549613053	chr1:158485190-158485191	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs373965398	chr1:158485192-158485193	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs16840297	chr1:158485250-158485251	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs534575650	chr1:158485285-158485286	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs370489058	chr1:158485301-158485302	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs571336534	chr1:158485395-158485396	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs546994542	chr1:158485409-158485410	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs116633126	chr1:158485418-158485419	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs555917353	chr1:158485422-158485423	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs539366405	chr1:158485429-158485430	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs201674681	chr1:158485441-158485442	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs200782415	chr1:158485446-158485447	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs11264997	chr1:158485482-158485483	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs111675436	chr1:158485486-158485487	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs555748956	chr1:158485487-158485488	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs574403954	chr1:158485540-158485541	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs541733521	chr1:158485601-158485602	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs555874274	chr1:158485602-158485603	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs368509057	chr1:158485640-158485641	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs77310248	chr1:158485643-158485644	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs563248866	chr1:158485644-158485645	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs534974931	chr1:158485678-158485679	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs548590056	chr1:158485687-158485688	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs550708723	chr1:158486036-158486037	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	17440070	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158486000-158486600	Enhancers	Brain Cingulate Gyrus	brain
2	chr1:158486800-158487000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:158486800-158487800	Enhancers	Brain Hippocampus Middle	brain
4	chr1:158489400-158489600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:158490800-158491000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:158490800-158492000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr1:158491000-158491200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:158491000-158491600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr1:158491000-158491600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr1:158491000-158491800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr1:158491600-158491800	Enhancers	H1 Cell Line	embryonic stem cell
12	chr1:158491600-158492000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr1:158491800-158496800	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr1:158491800-158497400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr1:158492000-158497200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr1:158495800-158497400	Enhancers	Dnd41	blood
17	chr1:158496800-158498200	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr1:158497000-158498000	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr1:158497200-158497600	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr1:158497200-158498000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr1:158497400-158497600	Enhancers	H1 Cell Line	embryonic stem cell
22	chr1:158497400-158498000	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr1:158504200-158504800	Enhancers	K562	blood
24	chr1:158504200-158505000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr1:158505400-158505600	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr1:158506600-158506800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr1:158507400-158508200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:158507400-158508400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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