Variant report

Variant	nsv872900
Chromosome Location	chr1:195082738-195145923
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:167)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:167 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr1:195122356-195122540	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr1:195122285-195122583	K562	blood:	n/a	n/a
3	CEBPB	chr1:195128405-195128660	IMR90	lung:	n/a	n/a
4	CEBPB	chr1:195104306-195104383	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr1:195128391-195128567	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	CEBPB	chr1:195138686-195138889	HepG2	liver:	n/a	chr1:195138791-195138802 chr1:195138790-195138801 chr1:195138790-195138803
8	CTCF	chr1:195143040-195143190	GM12867	blood:	n/a	n/a
9	CTCF	chr1:195143014-195143184	GM12878	blood:	n/a	n/a
10	CTCF	chr1:195142960-195143110	GM12865	blood:	n/a	n/a
11	CTCF	chr1:195143020-195143170	HPF	lung:	n/a	n/a
12	CTCF	chr1:195142940-195143090	HMEC	breast:	n/a	n/a
13	CTCF	chr1:195143038-195143154	GM10248	blood:	n/a	n/a
14	CTCF	chr1:195143079-195143081	Hela-S3	cervix:	n/a	n/a
15	CTCF	chr1:195142909-195143294	GM12878	blood:	n/a	n/a
16	CTCF	chr1:195143000-195143150	HRE	kidney:	n/a	n/a
17	CTCF	chr1:195143040-195143190	BE2_C	brain:	n/a	n/a
18	CTCF	chr1:195143035-195143144	Medullo	brain:	n/a	n/a
19	CTCF	chr1:195143000-195143150	MCF-7	breast:	n/a	n/a
20	CTCF	chr1:195143034-195143110	MCF-7	breast:	n/a	n/a
21	CTCF	chr1:195143036-195143140	GM13977	blood:	n/a	n/a
22	CTCF	chr1:195142900-195143190	BE2_C	brain:	n/a	n/a
23	CTCF	chr1:195143140-195143290	GM12865	blood:	n/a	n/a
24	CTCF	chr1:195143380-195143530	GM12869	blood:	n/a	n/a
25	CTCF	chr1:195143040-195143190	GM12873	blood:	n/a	n/a
26	CTCF	chr1:195142940-195143090	GM12872	blood:	n/a	n/a
27	CTCF	chr1:195143020-195143170	HMEC	breast:	n/a	n/a
28	CTCF	chr1:195142928-195143329	MCF-7	breast:	n/a	n/a
29	CTCF	chr1:195143060-195143210	HCT-116	colon:	n/a	n/a
30	CTCF	chr1:195143040-195143190	GM12871	blood:	n/a	n/a
31	CTCF	chr1:195143060-195143210	GM12872	blood:	n/a	n/a
32	CTCF	chr1:195143082-195143113	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr1:195143020-195143170	GM12864	blood:	n/a	n/a
34	CTCF	chr1:195143080-195143230	GM12864	blood:	n/a	n/a
35	CTCF	chr1:195083780-195083930	MCF-7	breast:	n/a	n/a
36	CTCF	chr1:195142980-195143130	WERI-Rb-1	eye:	n/a	n/a
37	CTCF	chr1:195143064-195143111	GM13976	blood:	n/a	n/a
38	CTCF	chr1:195143020-195143170	HBMEC	blood vessel:	n/a	n/a
39	CTCF	chr1:195142920-195143070	GM12865	blood:	n/a	n/a
40	CTCF	chr1:195143040-195143190	GM06990	blood:	n/a	n/a
41	CTCF	chr1:195143037-195143148	MCF-7	breast:	n/a	n/a
42	CTCF	chr1:195143000-195143150	HCPEpiC	choroid plexus:	n/a	n/a
43	CTCF	chr1:195142980-195143130	GM12878	blood:	n/a	n/a
44	CTCF	chr1:195142980-195143130	GM12864	blood:	n/a	n/a
45	CTCF	chr1:195142980-195143130	GM12865	blood:	n/a	n/a
46	CTCF	chr1:195143036-195143105	GM10266	blood:	n/a	n/a
47	CTCF	chr1:195143020-195143170	GM12866	blood:	n/a	n/a
48	CTCF	chr1:195132400-195132550	Caco-2	colon:	n/a	n/a
49	CTCF	chr1:195127740-195127890	GM06990	blood:	n/a	n/a
50	E2F4	chr1:195122342-195122510	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:195130839..195132878-chr1:195138252..195140071,2	K562	blood:
2	chr1:195130839..195132878-chr1:195138252..195140071,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000265108	TF binding region

Extended variants
information (count: 138 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:138 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184317101	chr1:195091399-195091400	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs190000147	chr1:195091404-195091405	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs144584545	chr1:195091410-195091411	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs151012519	chr1:195091421-195091422	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs573161909	chr1:195091636-195091637	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs74448948	chr1:195091642-195091643	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs186187729	chr1:195091658-195091659	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs190659933	chr1:195091689-195091690	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs1490372	chr1:195091716-195091717	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs181958549	chr1:195091761-195091762	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs563041077	chr1:195091823-195091824	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs372083169	chr1:195091837-195091838	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs150151405	chr1:195091854-195091855	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs549705054	chr1:195091888-195091889	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs567822139	chr1:195091917-195091918	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs530559979	chr1:195091922-195091923	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs186295433	chr1:195091934-195091935	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs370098308	chr1:195091969-195091970	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs191032878	chr1:195091994-195091995	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs534341899	chr1:195092002-195092003	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs1411815	chr1:195093310-195093311	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs2776714	chr1:195093315-195093316	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs371437708	chr1:195093412-195093413	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs373407158	chr1:195093500-195093501	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs698044	chr1:195093516-195093517	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs549666296	chr1:195093540-195093541	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs543741752	chr1:195094169-195094170	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs547759777	chr1:195094691-195094692	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs566391784	chr1:195094709-195094710	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs546810496	chr1:195094728-195094729	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs561373130	chr1:195094733-195094734	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs822459	chr1:195094768-195094769	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs1415150	chr1:195094787-195094788	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs143962466	chr1:195094790-195094791	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs537892439	chr1:195094810-195094811	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs556245228	chr1:195094833-195094834	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs822458	chr1:195094834-195094835	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs10921798	chr1:195094839-195094840	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs185285035	chr1:195095411-195095412	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs822455	chr1:195095459-195095460	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs570233778	chr1:195095477-195095478	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs191175902	chr1:195095502-195095503	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs569643314	chr1:195095513-195095514	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs144674021	chr1:195095532-195095533	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs554546751	chr1:195128600-195128601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs149942036	chr1:195128611-195128612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs188422098	chr1:195128645-195128646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs554888206	chr1:195128658-195128659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs573649474	chr1:195128738-195128739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs190464755	chr1:195128742-195128743	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Recurrent pregnancy loss	19789632	CNVD
Autism	21865298	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	20967226	CNVD
Oral cancer	21386901	CNVD
small cell lung cancer	20016488	CNVD
Asthma	20841430	CNVD
Maculopathy	22022419	CNVD
Maculopathy	21850184	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195128600-195129200	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr1:195128800-195130200	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr1:195128800-195130400	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr1:195129200-195129600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr1:195129200-195130200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr1:195129600-195130400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr1:195130000-195130400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr1:195130000-195130400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr1:195130200-195130600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr1:195135800-195136200	Enhancers	Pancreatic Islets	Pancreatic Islet

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