Variant report

Variant	nsv872895
Chromosome Location	chr1:195053377-195107223
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:219)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:219 , 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	CBX3	chr1:195066119-195066969	HCT-116	colon:	n/a	n/a
2	CBX3	chr1:195066317-195066989	HCT-116	colon:	n/a	n/a
3	CCNT2	chr1:195082155-195082271	K562	blood:	n/a	n/a
4	CEBPB	chr1:195104306-195104383	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr1:195065089-195065188	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr1:195085449-195085677	HepG2	liver:	n/a	chr1:195085517-195085528 chr1:195085516-195085529 chr1:195085564-195085575 chr1:195085564-195085575
7	CTCF	chr1:195074524-195074707	GM19240	blood:	n/a	n/a
8	CTCF	chr1:195074593-195074655	NHEK	skin:	n/a	n/a
9	CTCF	chr1:195074506-195074730	GM19238	blood:	n/a	n/a
10	CTCF	chr1:195074520-195074670	HepG2	liver:	n/a	n/a
11	CTCF	chr1:195074560-195074710	GM12870	blood:	n/a	n/a
12	CTCF	chr1:195074540-195074690	GM12864	blood:	n/a	n/a
13	CTCF	chr1:195074527-195074705	MCF-7	breast:	n/a	n/a
14	CTCF	chr1:195074600-195074750	HFF-Myc	foreskin:	n/a	n/a
15	CTCF	chr1:195074534-195074699	GM13977	blood:	n/a	n/a
16	CTCF	chr1:195074429-195074802	GM12878	blood:	n/a	n/a
17	CTCF	chr1:195065192-195065279	MCF-7	breast:	n/a	n/a
18	CTCF	chr1:195074600-195074750	HEK293	kidney:	n/a	n/a
19	CTCF	chr1:195074560-195074710	WERI-Rb-1	eye:	n/a	n/a
20	CTCF	chr1:195074500-195074650	HCT-116	colon:	n/a	n/a
21	CTCF	chr1:195074563-195074689	GM12891	blood:	n/a	n/a
22	CTCF	chr1:195066080-195066230	WERI-Rb-1	eye:	n/a	n/a
23	CTCF	chr1:195066555-195066692	MCF-7	breast:	n/a	n/a
24	CTCF	chr1:195074520-195074670	GM12871	blood:	n/a	n/a
25	CTCF	chr1:195074515-195074704	MCF-7	breast:	n/a	n/a
26	CTCF	chr1:195074600-195074750	GM12872	blood:	n/a	n/a
27	CTCF	chr1:195074593-195074679	Fibrobl	skin:	n/a	n/a
28	CTCF	chr1:195074300-195074450	GM12869	blood:	n/a	n/a
29	CTCF	chr1:195074527-195074672	GM13976	blood:	n/a	n/a
30	CTCF	chr1:195074580-195074730	GM12873	blood:	n/a	n/a
31	CTCF	chr1:195074584-195074647	MCF-7	breast:	n/a	n/a
32	CTCF	chr1:195066040-195066190	WERI-Rb-1	eye:	n/a	n/a
33	CTCF	chr1:195074580-195074730	GM12872	blood:	n/a	n/a
34	CTCF	chr1:195074540-195074690	GM12867	blood:	n/a	n/a
35	CTCF	chr1:195074540-195074690	GM12873	blood:	n/a	n/a
36	CTCF	chr1:195072087-195072168	MCF-7	breast:	n/a	n/a
37	CTCF	chr1:195072160-195072310	MCF-7	breast:	n/a	n/a
38	CTCF	chr1:195074523-195074719	GM12892	blood:	n/a	n/a
39	CTCF	chr1:195074560-195074710	HMEC	breast:	n/a	n/a
40	CTCF	chr1:195066125-195066179	MCF-7	breast:	n/a	n/a
41	CTCF	chr1:195074526-195074695	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr1:195074571-195074674	GM20000	blood:	n/a	n/a
43	CTCF	chr1:195074500-195074650	BE2_C	brain:	n/a	n/a
44	CTCF	chr1:195074540-195074690	Hela-S3	cervix:	n/a	n/a
45	CTCF	chr1:195074500-195074650	GM12865	blood:	n/a	n/a
46	CTCF	chr1:195074580-195074730	GM12875	blood:	n/a	n/a
47	CTCF	chr1:195074560-195074710	GM12874	blood:	n/a	n/a
48	CTCF	chr1:195074537-195074691	MCF-7	breast:	n/a	n/a
49	CTCF	chr1:195074540-195074690	GM06990	blood:	n/a	n/a
50	CTCF	chr1:195074560-195074710	HBMEC	blood vessel:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:195076488..195078314-chr16:29816661..29818822,2	MCF-7	breast:

No data

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

Extended variants
information (count: 383 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:383 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7549038	chr1:195054266-195054267	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs535352502	chr1:195054278-195054279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs698045	chr1:195054338-195054339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs72730891	chr1:195054340-195054341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569011336	chr1:195054352-195054353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs12125024	chr1:195054415-195054416	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs557944740	chr1:195054424-195054425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542337078	chr1:195054426-195054427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563333841	chr1:195054486-195054487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs2636337	chr1:195054491-195054492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530824988	chr1:195054520-195054521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534289712	chr1:195054532-195054533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs1831473	chr1:195054533-195054534	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs574131911	chr1:195054534-195054535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs374305102	chr1:195054553-195054554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189950197	chr1:195054599-195054600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs148943454	chr1:195054639-195054640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182589619	chr1:195054662-195054663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs12728887	chr1:195054699-195054700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs12752869	chr1:195054700-195054701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs560741371	chr1:195054750-195054751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528135418	chr1:195054755-195054756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs78563526	chr1:195054777-195054778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs12748853	chr1:195054779-195054780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs572916940	chr1:195054783-195054784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs561343162	chr1:195054793-195054794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs368979065	chr1:195063086-195063087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35236785	chr1:195063088-195063089	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs530419310	chr1:195063094-195063095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548629131	chr1:195063118-195063119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs67928178	chr1:195063122-195063123	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs183476643	chr1:195063125-195063126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552827979	chr1:195063126-195063127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10494722	chr1:195063150-195063151	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs35459023	chr1:195063188-195063189	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs547410502	chr1:195063189-195063190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7518089	chr1:195063243-195063244	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs373966497	chr1:195063246-195063247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7518103	chr1:195063274-195063275	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs554600441	chr1:195063275-195063276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576299975	chr1:195063306-195063307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571507682	chr1:195063311-195063312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536816254	chr1:195063315-195063316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs34420016	chr1:195063326-195063327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558332383	chr1:195063359-195063360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188414766	chr1:195063363-195063364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142307953	chr1:195063387-195063388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7526195	chr1:195063390-195063391	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs574775240	chr1:195063397-195063398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138629158	chr1:195063412-195063413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Maculopathy	21850184	CNVD
Schizophrenia	20967226	CNVD
Oral cancer	21386901	CNVD
Maculopathy	22022419	CNVD
Breast cancer	22522925	CNVD
Asthma	20841430	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195054200-195054800	Enhancers	Fetal Lung	lung
2	chr1:195063000-195065400	Weak transcription	Right Atrium	heart
3	chr1:195063600-195064000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:195064000-195066200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:195065200-195065600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:195065200-195065600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:195065400-195065600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr1:195065400-195065600	ZNF genes & repeats	Right Atrium	heart
9	chr1:195066200-195067200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:195066200-195067200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:195066200-195067600	Enhancers	HMEC	breast
12	chr1:195066400-195066800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:195066400-195067000	Enhancers	NHEK	skin
14	chr1:195066400-195067200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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