Variant report

Variant	nsv872893
Chromosome Location	chr1:194996485-195103653
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:367)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr1:195066317-195066989	HCT-116	colon:	n/a	n/a
2	CBX3	chr1:195066119-195066969	HCT-116	colon:	n/a	n/a
3	CCNT2	chr1:195082155-195082271	K562	blood:	n/a	n/a
4	CEBPB	chr1:195085449-195085677	HepG2	liver:	n/a	chr1:195085517-195085528 chr1:195085516-195085529 chr1:195085564-195085575 chr1:195085564-195085575
5	CEBPB	chr1:195048669-195048869	K562	blood:	n/a	chr1:195048785-195048798 chr1:195048787-195048796 chr1:195048785-195048796
6	CEBPB	chr1:195048707-195048870	A549	lung:	n/a	chr1:195048785-195048798 chr1:195048787-195048796 chr1:195048785-195048796
7	CEBPB	chr1:195016869-195017077	K562	blood:	n/a	chr1:195016980-195016993
8	CEBPB	chr1:195065089-195065188	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr1:195048651-195048838	HepG2	liver:	n/a	chr1:195048785-195048798 chr1:195048787-195048796 chr1:195048785-195048796
10	CHD2	chr1:195032724-195032789	K562	blood:	n/a	n/a
11	CTCF	chr1:195074563-195074689	GM12891	blood:	n/a	n/a
12	CTCF	chr1:195074560-195074710	GM12875	blood:	n/a	n/a
13	CTCF	chr1:195074523-195074719	GM12892	blood:	n/a	n/a
14	CTCF	chr1:195074580-195074730	GM12872	blood:	n/a	n/a
15	CTCF	chr1:195074560-195074710	GM12864	blood:	n/a	n/a
16	CTCF	chr1:195074500-195074650	BE2_C	brain:	n/a	n/a
17	CTCF	chr1:195074500-195074650	SK-N-SH_RA	brain:	n/a	n/a
18	CTCF	chr1:195074480-195074630	GM12873	blood:	n/a	n/a
19	CTCF	chr1:195074540-195074690	GM12873	blood:	n/a	n/a
20	CTCF	chr1:195074460-195074610	HFF-Myc	foreskin:	n/a	n/a
21	CTCF	chr1:195074506-195074730	GM19238	blood:	n/a	n/a
22	CTCF	chr1:195072160-195072310	MCF-7	breast:	n/a	n/a
23	CTCF	chr1:195074534-195074699	GM13977	blood:	n/a	n/a
24	CTCF	chr1:195074527-195074672	GM13976	blood:	n/a	n/a
25	CTCF	chr1:195039074-195039113	Fibrobl	skin:	n/a	n/a
26	CTCF	chr1:195074560-195074710	BE2_C	brain:	n/a	n/a
27	CTCF	chr1:195074580-195074730	GM12865	blood:	n/a	n/a
28	CTCF	chr1:195066120-195066270	HMEC	breast:	n/a	n/a
29	CTCF	chr1:195074580-195074730	GM12873	blood:	n/a	n/a
30	CTCF	chr1:195074537-195074691	MCF-7	breast:	n/a	n/a
31	CTCF	chr1:195074548-195074657	GM10266	blood:	n/a	n/a
32	CTCF	chr1:195083780-195083930	MCF-7	breast:	n/a	n/a
33	CTCF	chr1:195074560-195074710	HBMEC	blood vessel:	n/a	n/a
34	CTCF	chr1:195066125-195066179	MCF-7	breast:	n/a	n/a
35	CTCF	chr1:195072100-195072250	MCF-7	breast:	n/a	n/a
36	CTCF	chr1:195074540-195074690	GM12864	blood:	n/a	n/a
37	CTCF	chr1:195074600-195074750	GM12866	blood:	n/a	n/a
38	CTCF	chr1:195074593-195074679	Fibrobl	skin:	n/a	n/a
39	CTCF	chr1:195074515-195074704	MCF-7	breast:	n/a	n/a
40	CTCF	chr1:195074560-195074710	GM12870	blood:	n/a	n/a
41	CTCF	chr1:195034820-195034970	WERI-Rb-1	eye:	n/a	n/a
42	CTCF	chr1:195072087-195072168	MCF-7	breast:	n/a	n/a
43	CTCF	chr1:195066040-195066190	WERI-Rb-1	eye:	n/a	n/a
44	CTCF	chr1:195074540-195074690	GM12867	blood:	n/a	n/a
45	CTCF	chr1:195074527-195074705	MCF-7	breast:	n/a	n/a
46	CTCF	chr1:195074500-195074650	GM12878	blood:	n/a	n/a
47	CTCF	chr1:195074300-195074450	GM12869	blood:	n/a	n/a
48	CTCF	chr1:195074600-195074750	GM12872	blood:	n/a	n/a
49	CTCF	chr1:195074540-195074690	SK-N-SH_RA	brain:	n/a	n/a
50	CTCF	chr1:195074584-195074647	MCF-7	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:195023534-195023584	ovcar-3	ovarian:	n/a
2	chr1:195023534-195023584	HCF	heart:	n/a
3	chr1:195023534-195023584	HCM	heart:	n/a
4	chr1:195023534-195023584	HRE	kidney:	n/a
5	chr1:195023534-195023584	HEEpiC	esophagus:	n/a
6	chr1:195023534-195023584	NB4	blood:	n/a
7	chr1:195023534-195023584	AG04450	lung:	fetal
8	chr1:195023534-195023584	CMK	blood:	n/a
9	chr1:195023534-195023584	AG10803	skin:	n/a
10	chr1:195023534-195023584	BE2_C	brain:	n/a
11	chr1:195023534-195023584	HL-60	blood:	n/a
12	chr1:195023534-195023584	T-47D	breast:	n/a
13	chr1:195023534-195023584	AG09319	gingival:	n/a
14	chr1:195023534-195023584	HAEpiC	amniotic membrane:	n/a
15	chr1:195023534-195023584	Caco-2	colon:	n/a
16	chr1:195023534-195023584	Hepatocyte	liver:	n/a
17	chr1:195023534-195023584	U87	brain:	n/a
18	chr1:195023534-195023584	SK-N-SH_RA	brain:	n/a
19	chr1:195023534-195023584	HepG2	liver:	n/a
20	chr1:195023534-195023584	A549	lung:	n/a
21	chr1:195023534-195023584	MCF-7	breast:	n/a
22	chr1:195023534-195023584	AoSMC	blood vessel:	n/a
23	chr1:195023534-195023584	SAEC	small airway:	n/a
24	chr1:195023534-195023584	BJ	skin:	n/a
25	chr1:195023534-195023584	GM12891	blood:	n/a
26	chr1:195023534-195023584	ProgFib	skin:	n/a
27	chr1:195023534-195023584	LNCaP	prostate:	n/a
28	chr1:195023534-195023584	IMR90	lung:	fetal
29	chr1:195023534-195023584	HEK293	kidney:	embryo
30	chr1:195023534-195023584	H1-hESC	embryonic stem cell:	embryo
31	chr1:195023534-195023584	HPAEpiC	pulmonary alveolar:	n/a
32	chr1:195023534-195023584	PANC-1	pancreas:	n/a
33	chr1:195023534-195023584	PFSK-1	brain:	n/a
34	chr1:195023534-195023584	SK-N-SH	brain:	n/a
35	chr1:195023534-195023584	SK-N-MC	brain:	n/a
36	chr1:195023534-195023584	NHDF-neo	bronchial:	n/a
37	chr1:195023534-195023584	HCT-116	colon:	n/a
38	chr1:195023534-195023584	AG09309	skin:	n/a
39	chr1:195023534-195023584	HRPEpiC	eye:	n/a
40	chr1:195023534-195023584	HMEC	breast:	n/a
41	chr1:195023534-195023584	NH-A	brain:	n/a
42	chr1:195023534-195023584	NHBE	bronchial:	n/a
43	chr1:195023534-195023584	GM19239	blood:	n/a
44	chr1:195023534-195023584	RPTEC	kidney:	n/a
45	chr1:195023534-195023584	HNPCEpiC	eye:	n/a
46	chr1:195023534-195023584	ECC-1	luminal epithelium:	n/a
47	chr1:195023534-195023584	Jurkat	blood:	n/a
48	chr1:195023534-195023584	GM12878	blood:	n/a
49	chr1:195023534-195023584	NT2-D1	testis:	n/a
50	chr1:195023534-195023584	K562	blood:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:195005563..195007915-chr1:195009562..195011162,2	K562	blood:
2	chr1:195022148..195022648-chr5:180672971..180673497,2	HCT-116	colon:
3	chr1:195005563..195007915-chr1:195009562..195011162,2	K562	blood:
4	chr1:195076488..195078314-chr16:29816661..29818822,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000265108	TF binding region
ENSG00000265108	CpG island
ENSG00000103495	chromatin interactions

Extended variants
information (count: 750 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:750 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564014496	chr1:194999648-194999649	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs111936539	chr1:194999665-194999666	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs191266036	chr1:194999692-194999693	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs535753640	chr1:194999788-194999789	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs572896204	chr1:194999791-194999792	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs557605231	chr1:194999793-194999794	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs372245480	chr1:194999797-194999798	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs183465314	chr1:194999815-194999816	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs557931869	chr1:194999823-194999824	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs12563279	chr1:194999824-194999825	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs534451182	chr1:194999831-194999832	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs12065636	chr1:194999855-194999856	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs574399413	chr1:194999858-194999859	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs369663543	chr1:194999863-194999864	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs541480889	chr1:194999889-194999890	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs563561417	chr1:194999895-194999896	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs371952449	chr1:194999907-194999908	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs575616379	chr1:194999910-194999911	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs140988195	chr1:194999926-194999927	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs114309965	chr1:194999971-194999972	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs539815932	chr1:194999977-194999978	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs376229102	chr1:194999987-194999988	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs528582168	chr1:194999988-194999989	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs547100891	chr1:194999995-194999996	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs555354836	chr1:194999998-194999999	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs369358717	chr1:195000014-195000015	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs76410734	chr1:195000019-195000020	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs573711207	chr1:195000027-195000028	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs550709517	chr1:195000052-195000053	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs569161441	chr1:195000094-195000095	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs539789157	chr1:195000117-195000118	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs551549875	chr1:195000127-195000128	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs188183190	chr1:195000178-195000179	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs140155998	chr1:195000194-195000195	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs1538549	chr1:195005055-195005056	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs1538550	chr1:195005083-195005084	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs574088677	chr1:195005090-195005091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs185790099	chr1:195005110-195005111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs538902130	chr1:195005137-195005138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs371193094	chr1:195005173-195005174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs536786368	chr1:195005232-195005233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs558109547	chr1:195005244-195005245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs112770026	chr1:195005297-195005298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576744105	chr1:195005330-195005331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs138852856	chr1:195005349-195005350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs559559141	chr1:195005396-195005397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs531548432	chr1:195022627-195022628	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs182360242	chr1:195022634-195022635	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs565379796	chr1:195022671-195022672	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs187895987	chr1:195022759-195022760	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	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
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	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
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Breast cancer	21364760	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Hypoplastic left heart syndrome	22349727	CNVD
Maculopathy	22355348	CNVD
Schizophrenia	21346763	CNVD
early-passage human iPS cells	21368824	CNVD
Recurrent pregnancy loss	19789632	CNVD
Autism	21865298	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
small cell lung cancer	20016488	CNVD
Ollier disease	21235737	CNVD
Maculopathy	22022419	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Maculopathy	21850184	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	20967226	CNVD
Oral cancer	21386901	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Asthma	20841430	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:194999600-195000200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:195005000-195005400	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr1:195022600-195023000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:195045000-195045200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:195045200-195045600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:195045600-195046800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:195045600-195046800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:195046800-195047400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:195046800-195047600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:195047400-195050800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:195047600-195050200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:195050200-195051800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:195050800-195051200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:195054200-195054800	Enhancers	Fetal Lung	lung
15	chr1:195063000-195065400	Weak transcription	Right Atrium	heart
16	chr1:195063600-195064000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:195064000-195066200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:195065200-195065600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr1:195065200-195065600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr1:195065400-195065600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr1:195065400-195065600	ZNF genes & repeats	Right Atrium	heart
22	chr1:195066200-195067200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:195066200-195067200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:195066200-195067600	Enhancers	HMEC	breast
25	chr1:195066400-195066800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:195066400-195067000	Enhancers	NHEK	skin
27	chr1:195066400-195067200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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