Variant report

Variant	nsv872903
Chromosome Location	chr1:195094980-195164692
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	ATF2	chr1:195164239-195165053	GM12878	blood:	n/a	n/a
2	ATF2	chr1:195164308-195165083	GM12878	blood:	n/a	n/a
3	BACH1	chr1:195122356-195122540	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr1:195122285-195122583	K562	blood:	n/a	n/a
5	BATF	chr1:195164439-195165066	GM12878	blood:	n/a	n/a
6	BATF	chr1:195164462-195165019	GM12878	blood:	n/a	n/a
7	BCL11A	chr1:195164332-195165095	GM12878	blood:	n/a	n/a
8	BCL11A	chr1:195164392-195165066	GM12878	blood:	n/a	n/a
9	BCL3	chr1:195164564-195164876	GM12878	blood:	n/a	n/a
10	BCL3	chr1:195164566-195164924	GM12878	blood:	n/a	n/a
11	BCLAF1	chr1:195164254-195165079	GM12878	blood:	n/a	n/a
12	BCLAF1	chr1:195164321-195165003	GM12878	blood:	n/a	n/a
13	BHLHE40	chr1:195164335-195165128	GM12878	blood:	n/a	n/a
14	CEBPB	chr1:195138686-195138889	HepG2	liver:	n/a	chr1:195138791-195138802 chr1:195138790-195138801 chr1:195138790-195138803
15	CEBPB	chr1:195164512-195164921	GM12878	blood:	n/a	n/a
16	CEBPB	chr1:195162288-195162620	HepG2	liver:	n/a	chr1:195162449-195162460
17	CEBPB	chr1:195104306-195104383	H1-hESC	embryonic stem cell:	n/a	n/a
18	CEBPB	chr1:195162289-195162607	K562	blood:	n/a	chr1:195162449-195162460
19	CEBPB	chr1:195156777-195157417	IMR90	lung:	n/a	chr1:195157261-195157272
20	CEBPB	chr1:195162286-195162586	A549	lung:	n/a	chr1:195162449-195162460
21	CEBPB	chr1:195156773-195157427	HepG2	liver:	n/a	chr1:195157261-195157272
22	CEBPB	chr1:195164233-195165111	GM12878	blood:	n/a	n/a
23	CEBPB	chr1:195155506-195155683	A549	lung:	n/a	n/a
24	CEBPB	chr1:195128405-195128660	IMR90	lung:	n/a	n/a
25	CEBPB	chr1:195162289-195162624	IMR90	lung:	n/a	chr1:195162449-195162460
26	CEBPB	chr1:195128391-195128567	H1-hESC	embryonic stem cell:	n/a	n/a
27	CEBPB	chr1:195162301-195162522	H1-hESC	embryonic stem cell:	n/a	chr1:195162449-195162460
28	CHD2	chr1:195164408-195165021	GM12878	blood:	n/a	n/a
29	CREB1	chr1:195164430-195165056	GM12878	blood:	n/a	n/a
30	CREB1	chr1:195164327-195165176	GM12878	blood:	n/a	n/a
31	CTCF	chr1:195146665-195146784	LNCaP	prostate:	n/a	n/a
32	CTCF	chr1:195143034-195143110	MCF-7	breast:	n/a	n/a
33	CTCF	chr1:195143036-195143105	GM10266	blood:	n/a	n/a
34	CTCF	chr1:195142909-195143294	GM12878	blood:	n/a	n/a
35	CTCF	chr1:195132400-195132550	Caco-2	colon:	n/a	n/a
36	CTCF	chr1:195143000-195143150	HRE	kidney:	n/a	n/a
37	CTCF	chr1:195142980-195143130	GM12865	blood:	n/a	n/a
38	CTCF	chr1:195143060-195143210	HCT-116	colon:	n/a	n/a
39	CTCF	chr1:195143036-195143140	GM13977	blood:	n/a	n/a
40	CTCF	chr1:195143020-195143170	HBMEC	blood vessel:	n/a	n/a
41	CTCF	chr1:195143080-195143230	GM12864	blood:	n/a	n/a
42	CTCF	chr1:195143064-195143111	GM13976	blood:	n/a	n/a
43	CTCF	chr1:195142900-195143190	BE2_C	brain:	n/a	n/a
44	CTCF	chr1:195143082-195143113	Hela-S3	cervix:	n/a	n/a
45	CTCF	chr1:195143020-195143170	GM12864	blood:	n/a	n/a
46	CTCF	chr1:195143040-195143190	GM06990	blood:	n/a	n/a
47	CTCF	chr1:195143079-195143081	Hela-S3	cervix:	n/a	n/a
48	CTCF	chr1:195164412-195164778	GM12878	blood:	n/a	n/a
49	CTCF	chr1:195143000-195143150	HCPEpiC	choroid plexus:	n/a	n/a
50	CTCF	chr1:195142928-195143329	MCF-7	breast:	n/a	n/a

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:

Variant related genes	Relation type
ENSG00000265108	TF binding region

Extended variants
information (count: 311 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:311 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185285035	chr1:195095411-195095412	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs822455	chr1:195095459-195095460	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs570233778	chr1:195095477-195095478	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs191175902	chr1:195095502-195095503	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs569643314	chr1:195095513-195095514	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs144674021	chr1:195095532-195095533	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs554546751	chr1:195128600-195128601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs149942036	chr1:195128611-195128612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188422098	chr1:195128645-195128646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554888206	chr1:195128658-195128659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573649474	chr1:195128738-195128739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190464755	chr1:195128742-195128743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs144993280	chr1:195128801-195128802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532802172	chr1:195128847-195128848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535987319	chr1:195128879-195128880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183038034	chr1:195128921-195128922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs12058922	chr1:195128992-195128993	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs560346537	chr1:195129046-195129047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs527611883	chr1:195129053-195129054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs666259	chr1:195129098-195129099	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs567382805	chr1:195129103-195129104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs531818380	chr1:195129104-195129105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs2785796	chr1:195129126-195129127	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs149066813	chr1:195129133-195129134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs368654366	chr1:195129186-195129187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs568991748	chr1:195129192-195129193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs377062760	chr1:195129193-195129194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs666745	chr1:195129218-195129219	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs554218855	chr1:195129235-195129236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554211883	chr1:195129241-195129242	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs660281	chr1:195129284-195129285	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs536562140	chr1:195129375-195129376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187321449	chr1:195129383-195129384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144696953	chr1:195129385-195129386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543892303	chr1:195129420-195129421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200061695	chr1:195129540-195129541	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146761613	chr1:195129541-195129542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs3995147	chr1:195129542-195129543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs34949322	chr1:195129543-195129544	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574313190	chr1:195129544-195129545	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs71286581	chr1:195129545-195129546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201015058	chr1:195129546-195129547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs202225953	chr1:195129547-195129548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200771238	chr1:195129549-195129550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541622836	chr1:195129553-195129554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140843144	chr1:195129554-195129555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567010296	chr1:195129571-195129572	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs71811490	chr1:195129572-195129573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs66474156	chr1:195129573-195129574	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562198289	chr1:195129575-195129576	Enhancers Weak transcription	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
Schizophrenia	20967226	CNVD
Oral cancer	21386901	CNVD
small cell lung cancer	20016488	CNVD
Asthma	20841430	CNVD
early-passage human iPS cells	21368824	CNVD
Maculopathy	22022419	CNVD
Maculopathy	21850184	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	19812545	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:29 , 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
11	chr1:195154600-195155800	Enhancers	Fetal Brain Female	brain
12	chr1:195157200-195157800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:195157200-195157800	Enhancers	Colon Smooth Muscle	Colon
14	chr1:195157600-195158000	Enhancers	Rectal Smooth Muscle	rectum
15	chr1:195157800-195159000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:195159000-195160000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:195163800-195164000	Enhancers	GM12878-XiMat	blood
18	chr1:195164000-195164600	Weak transcription	GM12878-XiMat	blood
19	chr1:195164400-195165000	Active TSS	Primary T cells from cord blood	blood
20	chr1:195164400-195165000	Active TSS	Primary T helper naive cells from peripheral blood	blood
21	chr1:195164400-195165000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr1:195164400-195165000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:195164400-195165000	Active TSS	NHDF-Ad	bronchial
24	chr1:195164400-195165200	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr1:195164400-195165200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr1:195164600-195164800	Enhancers	GM12878-XiMat	blood
27	chr1:195164600-195165000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
28	chr1:195164600-195165000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
29	chr1:195164600-195165000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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