Variant report

Variant	nsv548704
Chromosome Location	chr1:195042377-195094980
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	chr1:195065089-195065188	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr1:195085449-195085677	HepG2	liver:	n/a	chr1:195085517-195085528 chr1:195085516-195085529 chr1:195085564-195085575 chr1:195085564-195085575
6	CEBPB	chr1:195048651-195048838	HepG2	liver:	n/a	chr1:195048785-195048798 chr1:195048787-195048796 chr1:195048785-195048796
7	CEBPB	chr1:195048669-195048869	K562	blood:	n/a	chr1:195048785-195048798 chr1:195048787-195048796 chr1:195048785-195048796
8	CEBPB	chr1:195048707-195048870	A549	lung:	n/a	chr1:195048785-195048798 chr1:195048787-195048796 chr1:195048785-195048796
9	CTCF	chr1:195074506-195074730	GM19238	blood:	n/a	n/a
10	CTCF	chr1:195074524-195074707	GM19240	blood:	n/a	n/a
11	CTCF	chr1:195074584-195074647	MCF-7	breast:	n/a	n/a
12	CTCF	chr1:195074527-195074705	MCF-7	breast:	n/a	n/a
13	CTCF	chr1:195074600-195074750	HFF-Myc	foreskin:	n/a	n/a
14	CTCF	chr1:195074526-195074695	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr1:195074540-195074690	GM06990	blood:	n/a	n/a
16	CTCF	chr1:195074540-195074690	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr1:195074460-195074610	HCT-116	colon:	n/a	n/a
18	CTCF	chr1:195074563-195074689	GM12891	blood:	n/a	n/a
19	CTCF	chr1:195074460-195074610	HFF-Myc	foreskin:	n/a	n/a
20	CTCF	chr1:195066060-195066210	BE2_C	brain:	n/a	n/a
21	CTCF	chr1:195066125-195066179	MCF-7	breast:	n/a	n/a
22	CTCF	chr1:195074500-195074650	GM12878	blood:	n/a	n/a
23	CTCF	chr1:195072100-195072250	MCF-7	breast:	n/a	n/a
24	CTCF	chr1:195074600-195074750	GM12868	blood:	n/a	n/a
25	CTCF	chr1:195074460-195074610	HPF	lung:	n/a	n/a
26	CTCF	chr1:195072087-195072168	MCF-7	breast:	n/a	n/a
27	CTCF	chr1:195074529-195074720	GM12878	blood:	n/a	n/a
28	CTCF	chr1:195074571-195074674	GM20000	blood:	n/a	n/a
29	CTCF	chr1:195074300-195074450	GM12869	blood:	n/a	n/a
30	CTCF	chr1:195074500-195074650	HCT-116	colon:	n/a	n/a
31	CTCF	chr1:195074560-195074710	GM12875	blood:	n/a	n/a
32	CTCF	chr1:195074540-195074690	GM12871	blood:	n/a	n/a
33	CTCF	chr1:195074500-195074650	SK-N-SH_RA	brain:	n/a	n/a
34	CTCF	chr1:195074593-195074679	Fibrobl	skin:	n/a	n/a
35	CTCF	chr1:195074540-195074690	SK-N-SH_RA	brain:	n/a	n/a
36	CTCF	chr1:195074580-195074730	GM12865	blood:	n/a	n/a
37	CTCF	chr1:195074540-195074690	GM12869	blood:	n/a	n/a
38	CTCF	chr1:195074429-195074802	GM12878	blood:	n/a	n/a
39	CTCF	chr1:195066555-195066692	MCF-7	breast:	n/a	n/a
40	CTCF	chr1:195074515-195074704	MCF-7	breast:	n/a	n/a
41	CTCF	chr1:195074560-195074710	GM12874	blood:	n/a	n/a
42	CTCF	chr1:195074560-195074710	WERI-Rb-1	eye:	n/a	n/a
43	CTCF	chr1:195074540-195074690	GM12873	blood:	n/a	n/a
44	CTCF	chr1:195074540-195074690	GM12867	blood:	n/a	n/a
45	CTCF	chr1:195083780-195083930	MCF-7	breast:	n/a	n/a
46	CTCF	chr1:195074548-195074657	GM10266	blood:	n/a	n/a
47	CTCF	chr1:195074580-195074730	GM12872	blood:	n/a	n/a
48	CTCF	chr1:195074500-195074650	GM12865	blood:	n/a	n/a
49	CTCF	chr1:195066040-195066190	WERI-Rb-1	eye:	n/a	n/a
50	CTCF	chr1:195074600-195074750	GM12872	blood:	n/a	n/a

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

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

Extended variants
information (count: 685 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:685 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576622314	chr1:195045000-195045001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs67154778	chr1:195045023-195045024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs201780151	chr1:195045026-195045027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs200029378	chr1:195045028-195045029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs200972938	chr1:195045029-195045030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs543712655	chr1:195045030-195045031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs202243610	chr1:195045032-195045033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565098975	chr1:195045053-195045054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560703017	chr1:195045061-195045062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs142850156	chr1:195045123-195045124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376865910	chr1:195045125-195045126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544702490	chr1:195045160-195045161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs186542143	chr1:195045179-195045180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs527263705	chr1:195045182-195045183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs10801383	chr1:195045183-195045184	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs370777403	chr1:195045224-195045225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs560961330	chr1:195045229-195045230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531589158	chr1:195045324-195045325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs10921771	chr1:195045325-195045326	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs10801384	chr1:195045337-195045338	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs146074134	chr1:195045381-195045382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs547887200	chr1:195045415-195045416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs12407267	chr1:195045475-195045476	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs536763971	chr1:195045486-195045487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs112581209	chr1:195045487-195045488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570136514	chr1:195045508-195045509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs72139496	chr1:195045513-195045514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs369109592	chr1:195045514-195045515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570043537	chr1:195045587-195045588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs35174460	chr1:195045600-195045601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs398089781	chr1:195045601-195045602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557401380	chr1:195045637-195045638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10157561	chr1:195045675-195045676	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs577002755	chr1:195045690-195045691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541263290	chr1:195045709-195045710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138804352	chr1:195045715-195045716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572017593	chr1:195045742-195045743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs76575315	chr1:195045756-195045757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112870605	chr1:195045757-195045758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560680878	chr1:195045779-195045780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34974125	chr1:195045794-195045795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189387939	chr1:195045797-195045798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149544617	chr1:195045806-195045807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111430684	chr1:195045830-195045831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185188804	chr1:195045834-195045835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565886054	chr1:195045838-195045839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573910361	chr1:195045875-195045876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538241669	chr1:195045898-195045899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189947003	chr1:195045943-195045944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10159346	chr1:195045969-195045970	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:107)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Maculopathy	22022419	CNVD
Breast cancer	22522925	CNVD
Asthma	20841430	CNVD

Chromatin state (count:24 , 50 per page) page: 1

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

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