Variant report

Variant	nsv553771
Chromosome Location	chr11:23825236-23875164
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:121)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:121 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:23829075-23829384	HepG2	liver:	n/a	chr11:23829233-23829244
2	CEBPB	chr11:23829094-23829349	A549	lung:	n/a	chr11:23829233-23829244
3	CEBPB	chr11:23844303-23844514	HepG2	liver:	n/a	chr11:23844394-23844405
4	CEBPB	chr11:23829064-23829390	IMR90	lung:	n/a	chr11:23829233-23829244
5	CEBPB	chr11:23844250-23844479	IMR90	lung:	n/a	chr11:23844394-23844405
6	CEBPB	chr11:23829111-23829319	K562	blood:	n/a	chr11:23829233-23829244
7	CTCF	chr11:23855960-23856110	HBMEC	blood vessel:	n/a	n/a
8	CTCF	chr11:23855960-23856110	AG09319	gingival:	n/a	n/a
9	CTCF	chr11:23855996-23856120	Medullo	brain:	n/a	n/a
10	CTCF	chr11:23864781-23864851	Lung_OC	lung:	n/a	n/a
11	CTCF	chr11:23855940-23856090	AG09319	gingival:	n/a	n/a
12	CTCF	chr11:23855880-23856030	HAc	cerebellar:	n/a	n/a
13	CTCF	chr11:23855920-23856070	BJ	skin:	n/a	n/a
14	CTCF	chr11:23855920-23856070	MCF-7	breast:	n/a	n/a
15	CTCF	chr11:23855940-23856090	NHEK	skin:	n/a	n/a
16	CTCF	chr11:23855900-23856050	HFF	foreskin:	n/a	n/a
17	CTCF	chr11:23855960-23856110	WERI-Rb-1	eye:	n/a	n/a
18	CTCF	chr11:23855960-23856110	AG10803	skin:	n/a	n/a
19	CTCF	chr11:23855860-23856010	HVMF	connective:	n/a	n/a
20	CTCF	chr11:23855920-23856070	HA-sp	spinal cord:	n/a	n/a
21	CTCF	chr11:23855920-23856070	HCM	heart:	n/a	n/a
22	CTCF	chr11:23855960-23856110	HMF	breast:	n/a	n/a
23	CTCF	chr11:23855986-23856130	Hela-S3	cervix:	n/a	n/a
24	CTCF	chr11:23855940-23856090	HMF	breast:	n/a	n/a
25	CTCF	chr11:23855980-23856130	HA-sp	spinal cord:	n/a	n/a
26	CTCF	chr11:23855960-23856110	HCPEpiC	choroid plexus:	n/a	n/a
27	CTCF	chr11:23855968-23856123	MCF-7	breast:	n/a	n/a
28	CTCF	chr11:23855980-23856130	NHLF	lung:	n/a	n/a
29	CTCF	chr11:23855940-23856090	HCPEpiC	choroid plexus:	n/a	n/a
30	CTCF	chr11:23855960-23856110	HPF	lung:	n/a	n/a
31	CTCF	chr11:23855990-23856196	GM12878	blood:	n/a	n/a
32	CTCF	chr11:23855960-23856110	HEK293	kidney:	n/a	n/a
33	CTCF	chr11:23855940-23856090	HEEpiC	esophagus:	n/a	n/a
34	CTCF	chr11:23856012-23856107	ProgFib	skin:	n/a	n/a
35	CTCF	chr11:23855940-23856090	SAEC	small airway:	n/a	n/a
36	CTCF	chr11:23855989-23856128	Gliobla	brain:	n/a	n/a
37	CTCF	chr11:23855920-23856070	AG09309	skin:	n/a	n/a
38	CTCF	chr11:23855860-23856010	NHDF-neo	bronchial:	n/a	n/a
39	CTCF	chr11:23855960-23856110	HPAF	blood vessel:	n/a	n/a
40	CTCF	chr11:23855956-23856145	HUVEC	blood vessel:	n/a	n/a
41	CTCF	chr11:23855940-23856090	AoAF	blood vessel:	n/a	n/a
42	CTCF	chr11:23827236-23827314	ProgFib	skin:	n/a	n/a
43	CTCF	chr11:23855960-23856110	HEEpiC	esophagus:	n/a	n/a
44	CTCF	chr11:23855952-23856153	MCF-7	breast:	n/a	n/a
45	CTCF	chr11:23855940-23856090	HMEC	breast:	n/a	n/a
46	CTCF	chr11:23856000-23856150	SK-N-SH_RA	brain:	n/a	n/a
47	CTCF	chr11:23855900-23856050	HVMF	connective:	n/a	n/a
48	CTCF	chr11:23855926-23856203	IMR90	lung:	n/a	n/a
49	CTCF	chr11:23855940-23856090	BJ	skin:	n/a	n/a
50	CTCF	chr11:23855960-23856110	HRE	kidney:	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:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-17A1.2.1-2	chr11:23829736-23829778	XLOC_009395
2	lnc-RP11-17A1.2.1-2	chr11:23826000-23826222	XLOC_009395
3	lnc-RP11-17A1.2.1-2	chr11:23826025-23826144	ENSG00000254861
4	lnc-RP11-17A1.2.1-6	chr11:23874839-23875216	NONHSAT018433

No data

Variant related genes	Relation type
RNU6-783P	TF binding region
ENSG00000254861	TF binding region

Extended variants
information (count: 439 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:439 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4304772	chr11:23825236-23825237	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs553665012	chr11:23825255-23825256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566560052	chr11:23825269-23825270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4569007	chr11:23825293-23825294	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs565328448	chr11:23825329-23825330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs79849570	chr11:23825390-23825391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544927515	chr11:23825420-23825421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561590892	chr11:23825443-23825444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530252139	chr11:23825502-23825503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547199062	chr11:23825510-23825511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560504395	chr11:23825518-23825519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532115466	chr11:23825543-23825544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs116704288	chr11:23825551-23825552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10767122	chr11:23825560-23825561	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs570735057	chr11:23825685-23825686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537414252	chr11:23825722-23825723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548211818	chr11:23825775-23825776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147105262	chr11:23825809-23825810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536031697	chr11:23825813-23825814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556208513	chr11:23825819-23825820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138305657	chr11:23825836-23825837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553975798	chr11:23825844-23825845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576965268	chr11:23825846-23825847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113484588	chr11:23825862-23825863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147243077	chr11:23825883-23825884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7479404	chr11:23825944-23825945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568034458	chr11:23825987-23825988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575722757	chr11:23826015-23826016	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs544587524	chr11:23826057-23826058	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs561103809	chr11:23826063-23826064	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs185831923	chr11:23826085-23826086	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs575110126	chr11:23826115-23826116	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs188248948	chr11:23826163-23826164	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs75713748	chr11:23826221-23826222	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs193179225	chr11:23826225-23826226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184560783	chr11:23826246-23826247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112555237	chr11:23826259-23826260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs202192459	chr11:23826322-23826323	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140271116	chr11:23826335-23826336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12419586	chr11:23826398-23826399	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs567955607	chr11:23826433-23826434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141457581	chr11:23826495-23826496	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs547330663	chr11:23826534-23826535	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs570666504	chr11:23826615-23826616	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs139552777	chr11:23826715-23826716	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs559114601	chr11:23826719-23826720	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs569400666	chr11:23826745-23826746	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs537936658	chr11:23826824-23826825	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs554987051	chr11:23826838-23826839	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs143497943	chr11:23826839-23826840	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:23820800-23828200	Weak transcription	Colon Smooth Muscle	Colon
2	chr11:23826200-23826800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr11:23828200-23828600	Enhancers	Colon Smooth Muscle	Colon
4	chr11:23829600-23834800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr11:23848000-23848800	Enhancers	Fetal Lung	lung
6	chr11:23868000-23869200	Enhancers	HUVEC	blood vessel
7	chr11:23868800-23869000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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