Variant report

Variant	nsv1039983
Chromosome Location	chr11:23830385-23857666
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:87)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:87 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:23844250-23844479	IMR90	lung:	n/a	chr11:23844394-23844405
2	CEBPB	chr11:23844303-23844514	HepG2	liver:	n/a	chr11:23844394-23844405
3	CTCF	chr11:23855940-23856090	HMEC	breast:	n/a	n/a
4	CTCF	chr11:23855986-23856130	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr11:23855960-23856110	WERI-Rb-1	eye:	n/a	n/a
6	CTCF	chr11:23855960-23856110	HBMEC	blood vessel:	n/a	n/a
7	CTCF	chr11:23849360-23849510	MCF-7	breast:	n/a	n/a
8	CTCF	chr11:23855960-23856110	AG04449	skin:	n/a	n/a
9	CTCF	chr11:23855980-23856130	HA-sp	spinal cord:	n/a	n/a
10	CTCF	chr11:23855880-23856030	HRPEpiC	eye:	n/a	n/a
11	CTCF	chr11:23855920-23856070	HCM	heart:	n/a	n/a
12	CTCF	chr11:23855960-23856110	HEK293	kidney:	n/a	n/a
13	CTCF	chr11:23855960-23856110	AG09319	gingival:	n/a	n/a
14	CTCF	chr11:23855900-23856050	HVMF	connective:	n/a	n/a
15	CTCF	chr11:23855960-23856110	HPAF	blood vessel:	n/a	n/a
16	CTCF	chr11:23855940-23856090	HMF	breast:	n/a	n/a
17	CTCF	chr11:23855990-23856196	GM12878	blood:	n/a	n/a
18	CTCF	chr11:23855900-23856050	HFF	foreskin:	n/a	n/a
19	CTCF	chr11:23855926-23856203	IMR90	lung:	n/a	n/a
20	CTCF	chr11:23855960-23856110	HCFaa	heart:	n/a	n/a
21	CTCF	chr11:23855960-23856110	HMF	breast:	n/a	n/a
22	CTCF	chr11:23855920-23856070	HA-sp	spinal cord:	n/a	n/a
23	CTCF	chr11:23855960-23856110	HRE	kidney:	n/a	n/a
24	CTCF	chr11:23855940-23856090	AG09319	gingival:	n/a	n/a
25	CTCF	chr11:23856139-23856154	Fibrobl	skin:	n/a	n/a
26	CTCF	chr11:23855980-23856130	MCF-7	breast:	n/a	n/a
27	CTCF	chr11:23855900-23856050	AG09309	skin:	n/a	n/a
28	CTCF	chr11:23855920-23856070	BJ	skin:	n/a	n/a
29	CTCF	chr11:23855940-23856090	HCPEpiC	choroid plexus:	n/a	n/a
30	CTCF	chr11:23855960-23856110	HEEpiC	esophagus:	n/a	n/a
31	CTCF	chr11:23855960-23856110	HCPEpiC	choroid plexus:	n/a	n/a
32	CTCF	chr11:23856000-23856150	SK-N-SH_RA	brain:	n/a	n/a
33	CTCF	chr11:23855860-23856010	NHDF-neo	bronchial:	n/a	n/a
34	CTCF	chr11:23855960-23856110	Caco-2	colon:	n/a	n/a
35	CTCF	chr11:23855956-23856145	HUVEC	blood vessel:	n/a	n/a
36	CTCF	chr11:23856012-23856107	ProgFib	skin:	n/a	n/a
37	CTCF	chr11:23855940-23856090	AG04449	skin:	n/a	n/a
38	CTCF	chr11:23855940-23856090	AoAF	blood vessel:	n/a	n/a
39	CTCF	chr11:23855980-23856130	NHLF	lung:	n/a	n/a
40	CTCF	chr11:23855940-23856090	BJ	skin:	n/a	n/a
41	CTCF	chr11:23855940-23856090	NHEK	skin:	n/a	n/a
42	CTCF	chr11:23855952-23856153	MCF-7	breast:	n/a	n/a
43	CTCF	chr11:23855967-23856138	Fibrobl	skin:	n/a	n/a
44	CTCF	chr11:23855940-23856090	HEEpiC	esophagus:	n/a	n/a
45	CTCF	chr11:23855936-23856164	MCF-7	breast:	n/a	n/a
46	CTCF	chr11:23855989-23856128	Gliobla	brain:	n/a	n/a
47	CTCF	chr11:23849268-23849376	Hela-S3	cervix:	n/a	n/a
48	CTCF	chr11:23855996-23856120	Medullo	brain:	n/a	n/a
49	CTCF	chr11:23855920-23856070	MCF-7	breast:	n/a	n/a
50	CTCF	chr11:23855960-23856110	AG10803	skin:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:23822728..23824994-chr11:23830826..23833587,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000254861	TF binding region

Extended variants
information (count: 183 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:183 , 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	rs143689845	chr11:23830385-23830386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs543042551	chr11:23830392-23830393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs117662486	chr11:23830443-23830444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528840800	chr11:23830452-23830453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112653075	chr11:23830454-23830455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186611308	chr11:23830595-23830596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551910364	chr11:23830598-23830599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570625559	chr11:23830606-23830607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs140658401	chr11:23830614-23830615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs141793912	chr11:23830632-23830633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs77520210	chr11:23830711-23830712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535953446	chr11:23830713-23830714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546618479	chr11:23830799-23830800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566130595	chr11:23830804-23830805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11027510	chr11:23830818-23830819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146239715	chr11:23830820-23830821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558391988	chr11:23830821-23830822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191101123	chr11:23830858-23830859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs61473765	chr11:23830900-23830901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs397969860	chr11:23830906-23830907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183755634	chr11:23830926-23830927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538017520	chr11:23830931-23830932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555670000	chr11:23830937-23830938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554446968	chr11:23830967-23830968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567204690	chr11:23830986-23830987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542751098	chr11:23830991-23830992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112299429	chr11:23831010-23831011	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs573232665	chr11:23831053-23831054	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs372269188	chr11:23831059-23831060	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs545730050	chr11:23831061-23831062	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs1528552	chr11:23831097-23831098	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs189080305	chr11:23831099-23831100	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs551192756	chr11:23831171-23831172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192823079	chr11:23831180-23831181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185249865	chr11:23831295-23831296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529845695	chr11:23831302-23831303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546243346	chr11:23831332-23831333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187676166	chr11:23831403-23831404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538214298	chr11:23831411-23831412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577909401	chr11:23831420-23831421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs1528553	chr11:23831426-23831427	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs569162314	chr11:23831451-23831452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191707904	chr11:23831457-23831458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529858681	chr11:23831474-23831475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535972147	chr11:23831610-23831611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7942901	chr11:23831615-23831616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142641773	chr11:23831665-23831666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568114010	chr11:23831753-23831754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536759825	chr11:23831778-23831779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553467208	chr11:23831806-23831807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Renal cell carcinoma	18194544	CNVD
Myelofibrosis	22110671	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Autism	22102821	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:23829600-23834800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:23848000-23848800	Enhancers	Fetal Lung	lung

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