Variant report

Variant	nsv547983
Chromosome Location	chr1:158495464-158523671
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:218)
CpG islands
(count:183)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:218 , 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	chr1:158507626-158507887	HepG2	liver:	n/a	chr1:158507765-158507776
5	CTCF	chr1:158497050-158497240	A549	lung:	n/a	n/a
6	CTCF	chr1:158496997-158497400	K562	blood:	n/a	n/a
7	CTCF	chr1:158497120-158497270	HCPEpiC	choroid plexus:	n/a	n/a
8	CTCF	chr1:158497081-158497323	Kidney_OC	kidney:	n/a	n/a
9	CTCF	chr1:158497080-158497230	GM12872	blood:	n/a	n/a
10	CTCF	chr1:158497120-158497270	HPAF	blood vessel:	n/a	n/a
11	CTCF	chr1:158497100-158497250	HFF-Myc	foreskin:	n/a	n/a
12	CTCF	chr1:158497340-158497490	GM12864	blood:	n/a	n/a
13	CTCF	chr1:158496980-158497130	WI-38	lung:	n/a	n/a
14	CTCF	chr1:158497100-158497250	HEK293	kidney:	n/a	n/a
15	CTCF	chr1:158497100-158497250	HepG2	liver:	n/a	n/a
16	CTCF	chr1:158497100-158497250	Caco-2	colon:	n/a	n/a
17	CTCF	chr1:158497100-158497250	AG09319	gingival:	n/a	n/a
18	CTCF	chr1:158497100-158497250	HEEpiC	esophagus:	n/a	n/a
19	CTCF	chr1:158497040-158497190	NHEK	skin:	n/a	n/a
20	CTCF	chr1:158497100-158497250	AG09309	skin:	n/a	n/a
21	CTCF	chr1:158497079-158497244	GM19239	blood:	n/a	n/a
22	CTCF	chr1:158497140-158497290	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr1:158497030-158497368	K562	blood:	n/a	n/a
24	CTCF	chr1:158497100-158497250	RPTEC	kidney:	n/a	n/a
25	CTCF	chr1:158497120-158497270	AG04449	skin:	n/a	n/a
26	CTCF	chr1:158497100-158497250	HCPEpiC	choroid plexus:	n/a	n/a
27	CTCF	chr1:158496983-158497264	A549	lung:	n/a	n/a
28	CTCF	chr1:158497044-158497281	HepG2	liver:	n/a	n/a
29	CTCF	chr1:158497136-158497230	MCF-7	breast:	n/a	n/a
30	CTCF	chr1:158497090-158497286	Lung_OC	lung:	n/a	n/a
31	CTCF	chr1:158497100-158497250	AG04450	lung:	n/a	n/a
32	CTCF	chr1:158497100-158497250	HPF	lung:	n/a	n/a
33	CTCF	chr1:158497120-158497270	HCT-116	colon:	n/a	n/a
34	CTCF	chr1:158496932-158497427	MCF-7	breast:	n/a	n/a
35	CTCF	chr1:158497180-158497330	BE2_C	brain:	n/a	n/a
36	CTCF	chr1:158497100-158497250	GM06990	blood:	n/a	n/a
37	CTCF	chr1:158497440-158497590	HCM	heart:	n/a	n/a
38	CTCF	chr1:158497083-158497319	HUVEC	blood vessel:	n/a	n/a
39	CTCF	chr1:158497077-158497286	HepG2	liver:	n/a	n/a
40	CTCF	chr1:158496854-158497575	A549	lung:	n/a	n/a
41	CTCF	chr1:158497000-158497311	SK-N-SH_RA	brain:	n/a	n/a
42	CTCF	chr1:158497100-158497250	GM12864	blood:	n/a	n/a
43	CTCF	chr1:158497120-158497270	GM12866	blood:	n/a	n/a
44	CTCF	chr1:158497080-158497230	HRPEpiC	eye:	n/a	n/a
45	CTCF	chr1:158497072-158497317	GM10266	blood:	n/a	n/a
46	CTCF	chr1:158497120-158497270	K562	blood:	n/a	n/a
47	CTCF	chr1:158497066-158497219	A549	lung:	n/a	n/a
48	CTCF	chr1:158497120-158497270	GM12869	blood:	n/a	n/a
49	CTCF	chr1:158497093-158497097	GM19238	blood:	n/a	n/a
50	CTCF	chr1:158497080-158497230	NHDF-neo	bronchial:	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	HEK293	kidney:	embryo
2	chr1:158518363-158518413	A549	lung:	n/a
3	chr1:158518363-158518413	HAEpiC	amniotic membrane:	n/a
4	chr1:158517849-158517899	HEEpiC	esophagus:	n/a
5	chr1:158518363-158518413	Caco-2	colon:	n/a
6	chr1:158517489-158517539	ovcar-3	ovarian:	n/a
7	chr1:158518363-158518413	MCF-7	breast:	n/a
8	chr1:158517849-158517899	HRPEpiC	eye:	n/a
9	chr1:158517489-158517539	HNPCEpiC	eye:	n/a
10	chr1:158517849-158517899	Hepatocyte	liver:	n/a
11	chr1:158518363-158518413	Hela-S3	cervix:	n/a
12	chr1:158518363-158518413	GM19239	blood:	n/a
13	chr1:158517849-158517899	Caco-2	colon:	n/a
14	chr1:158517489-158517539	NB4	blood:	n/a
15	chr1:158518363-158518413	HCPEpiC	choroid plexus:	n/a
16	chr1:158518363-158518413	NHDF-neo	bronchial:	n/a
17	chr1:158517489-158517539	IMR90	lung:	fetal
18	chr1:158517849-158517899	HMEC	breast:	n/a
19	chr1:158518363-158518413	HMEC	breast:	n/a
20	chr1:158517489-158517539	NT2-D1	testis:	n/a
21	chr1:158517489-158517539	NHDF-neo	bronchial:	n/a
22	chr1:158517489-158517539	AoSMC	blood vessel:	n/a
23	chr1:158517489-158517539	HUVEC	blood vessel:	n/a
24	chr1:158517849-158517899	GM12891	blood:	n/a
25	chr1:158517849-158517899	A549	lung:	n/a
26	chr1:158517849-158517899	NHDF-neo	bronchial:	n/a
27	chr1:158517489-158517539	GM19239	blood:	n/a
28	chr1:158517849-158517899	HCT-116	colon:	n/a
29	chr1:158517489-158517539	HCF	heart:	n/a
30	chr1:158518363-158518413	SK-N-SH_RA	brain:	n/a
31	chr1:158517489-158517539	SK-N-SH	brain:	n/a
32	chr1:158518363-158518413	PrEC	prostate:	n/a
33	chr1:158518363-158518413	HCM	heart:	n/a
34	chr1:158517849-158517899	GM06990	blood:	n/a
35	chr1:158517849-158517899	ProgFib	skin:	n/a
36	chr1:158517849-158517899	HNPCEpiC	eye:	n/a
37	chr1:158517489-158517539	HPAEpiC	pulmonary alveolar:	n/a
38	chr1:158517849-158517899	BJ	skin:	n/a
39	chr1:158517849-158517899	HepG2	liver:	n/a
40	chr1:158518363-158518413	GM06990	blood:	n/a
41	chr1:158517849-158517899	NH-A	brain:	n/a
42	chr1:158517489-158517539	H1-hESC	embryonic stem cell:	embryo
43	chr1:158518363-158518413	HCT-116	colon:	n/a
44	chr1:158517849-158517899	AG04449	skin:	fetal
45	chr1:158517849-158517899	K562	blood:	n/a
46	chr1:158518363-158518413	H1-hESC	embryonic stem cell:	embryo
47	chr1:158517489-158517539	AG09309	skin:	n/a
48	chr1:158517849-158517899	H1-hESC	embryonic stem cell:	embryo
49	chr1:158518363-158518413	NH-A	brain:	n/a
50	chr1:158517489-158517539	HRPEpiC	eye:	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	chr1:158216395..158217146-chr1:158496757..158497397,2	MCF-7	breast:
3	chr1:158508197..158510777-chr1:158515313..158516870,2	K562	blood:

No data

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

Extended variants
information (count: 245 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:245 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6674669	chr1:158495464-158495465	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs565657705	chr1:158495493-158495494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146812497	chr1:158495528-158495529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs551191160	chr1:158495581-158495582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569512650	chr1:158495598-158495599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113697475	chr1:158495600-158495601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs61750869	chr1:158495617-158495618	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs574831999	chr1:158495642-158495643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182647061	chr1:158495697-158495698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554103022	chr1:158495785-158495786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs371698177	chr1:158495790-158495791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200953820	chr1:158495793-158495794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs202007630	chr1:158495799-158495800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75483561	chr1:158495800-158495801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs558434979	chr1:158495812-158495813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553020222	chr1:158495826-158495827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs376251042	chr1:158495831-158495832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544724393	chr1:158495835-158495836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552459639	chr1:158495840-158495841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs543953153	chr1:158495851-158495852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs561630976	chr1:158495873-158495874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528954883	chr1:158495883-158495884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs540685369	chr1:158495936-158495937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs146725947	chr1:158496006-158496007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs386635910	chr1:158496007-158496008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs115527901	chr1:158496009-158496010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs397720964	chr1:158496012-158496013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191967534	chr1:158496016-158496017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185322726	chr1:158496072-158496073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190349495	chr1:158496075-158496076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs569573935	chr1:158496077-158496078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs116173144	chr1:158496124-158496125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs549135528	chr1:158496138-158496139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs575392898	chr1:158496152-158496153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs535929835	chr1:158496218-158496219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs12118446	chr1:158496235-158496236	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs113487244	chr1:158496240-158496241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs373524886	chr1:158496266-158496267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs66735212	chr1:158496282-158496283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs558495383	chr1:158496310-158496311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs373802238	chr1:158496337-158496338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs576627249	chr1:158496374-158496375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs377598525	chr1:158496375-158496376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs76498423	chr1:158496418-158496419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs75314549	chr1:158496499-158496500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs72698748	chr1:158496541-158496542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs561181829	chr1:158496555-158496556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs138391862	chr1:158496597-158496598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs552884709	chr1:158496648-158496649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs528580778	chr1:158496655-158496656	Weak transcription 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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158491800-158496800	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr1:158491800-158497400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr1:158492000-158497200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr1:158495800-158497400	Enhancers	Dnd41	blood
5	chr1:158496800-158498200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr1:158497000-158498000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr1:158497200-158497600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr1:158497200-158498000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr1:158497400-158497600	Enhancers	H1 Cell Line	embryonic stem cell
10	chr1:158497400-158498000	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr1:158504200-158504800	Enhancers	K562	blood
12	chr1:158504200-158505000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr1:158505400-158505600	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr1:158506600-158506800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr1:158507400-158508200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:158507400-158508400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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