Variant report

Variant	nsv946073
Chromosome Location	chr1:92535539-92542456
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:29 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:92536456-92536529	Spleen_OC	spleen:	n/a	n/a
2	CTCF	chr1:92540716-92540768	GM10248	blood:	n/a	n/a
3	CTCF	chr1:92540784-92540787	GM10248	blood:	n/a	n/a
4	CTCF	chr1:92541966-92542038	GM13976	blood:	n/a	n/a
5	CTCF	chr1:92535640-92535674	GM20000	blood:	n/a	n/a
6	EBF1	chr1:92540822-92541027	GM12878	blood:	n/a	n/a
7	GATA3	chr1:92536488-92536734	T-47D	breast:	n/a	n/a
8	MAFK	chr1:92537132-92537352	HepG2	liver:	n/a	n/a
9	MAFK	chr1:92541452-92541462	HepG2	liver:	n/a	n/a
10	POLR2A	chr1:92540847-92541021	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr1:92540902-92540985	A549	lung:	n/a	n/a
12	POLR2A	chr1:92540832-92541025	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr1:92540821-92541023	GM12878	blood:	n/a	n/a
14	POLR2A	chr1:92540815-92540993	GM12878	blood:	n/a	n/a
15	POLR2A	chr1:92540708-92541050	GM12878	blood:	n/a	n/a
16	POLR2A	chr1:92540558-92541099	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr1:92540265-92540416	K562	blood:	n/a	n/a
18	POLR2A	chr1:92540747-92541066	GM12892	blood:	n/a	n/a
19	POLR2A	chr1:92540565-92541028	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr1:92539332-92539589	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr1:92539384-92539559	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr1:92536881-92537219	K562	blood:	n/a	n/a
23	POLR2A	chr1:92540844-92541005	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr1:92540787-92541013	H1-hESC	embryonic stem cell:	n/a	n/a
25	TAF1	chr1:92540813-92541039	H1-hESC	embryonic stem cell:	n/a	n/a
26	TAF1	chr1:92540835-92541019	Hela-S3	cervix:	n/a	n/a
27	TAF1	chr1:92540819-92541025	H1-hESC	embryonic stem cell:	n/a	n/a
28	ZC3H11A	chr1:92542045-92542197	K562	blood:	n/a	n/a
29	ZNF263	chr1:92540054-92540279	HEK293-T-REx	kidney:	n/a	chr1:92540144-92540165 chr1:92540189-92540210 chr1:92540213-92540234

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:92531679..92534472-chr1:92536505..92538325,2	K562	blood:
2	chr1:92535153..92538093-chr1:92546590..92548474,2	K562	blood:
3	chr1:92532650..92534894-chr1:92538818..92540475,2	K562	blood:

No data

Variant related genes	Relation type
BTBD8	TF binding region
SETSIP	TF binding region
ENSG00000233228	chromatin interactions

Extended variants
information (count: 158 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:158 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141571783	chr1:92535543-92535544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs568106622	chr1:92535606-92535607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535146024	chr1:92535627-92535628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182820686	chr1:92535640-92535641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575483767	chr1:92535660-92535661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs58191444	chr1:92535688-92535689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79293837	chr1:92535770-92535771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558057871	chr1:92535789-92535790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139405607	chr1:92535847-92535848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12748018	chr1:92535871-92535872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187042874	chr1:92535917-92535918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191405784	chr1:92535941-92535942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183283089	chr1:92535954-92535955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562414888	chr1:92535969-92535970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541883243	chr1:92536013-92536014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201120732	chr1:92536082-92536083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563681680	chr1:92536091-92536092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572655289	chr1:92536113-92536114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368290921	chr1:92536114-92536115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11166068	chr1:92536123-92536124	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs564390328	chr1:92536161-92536162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528669051	chr1:92536167-92536168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547162241	chr1:92536202-92536203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs568109777	chr1:92536205-92536206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs528967768	chr1:92536253-92536254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs201956333	chr1:92536256-92536257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs376955468	chr1:92536257-92536258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs531159320	chr1:92536258-92536259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs539395043	chr1:92536278-92536279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs558094920	chr1:92536337-92536338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs191474274	chr1:92536345-92536346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs534029605	chr1:92536351-92536352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs555519750	chr1:92536428-92536429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574867754	chr1:92536450-92536451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs182131895	chr1:92536457-92536458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs371271425	chr1:92536460-92536461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs188120730	chr1:92536461-92536462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs545750082	chr1:92536496-92536497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs147158094	chr1:92536547-92536548	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs140531711	chr1:92536557-92536558	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs569618028	chr1:92536569-92536570	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs372120783	chr1:92536570-92536571	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs149727093	chr1:92536643-92536644	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs369335665	chr1:92536715-92536716	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs562323725	chr1:92536750-92536751	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs192945451	chr1:92536754-92536755	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs372180829	chr1:92536823-92536824	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs72159935	chr1:92536848-92536849	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs10657788	chr1:92536858-92536859	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs12065626	chr1:92536883-92536884	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	16397240	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Prostate cancer	19156837	CNVD
Autism	17483303	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92516800-92536200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr1:92536200-92536600	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr1:92536200-92536600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr1:92540800-92545400	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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