Variant report

Variant	nsv1042369
Chromosome Location	chr11:23817905-23848437
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	CEBPB	chr11:23829111-23829319	K562	blood:	n/a	chr11:23829233-23829244
2	CEBPB	chr11:23829094-23829349	A549	lung:	n/a	chr11:23829233-23829244
3	CEBPB	chr11:23820809-23821124	HepG2	liver:	n/a	chr11:23821104-23821117
4	CEBPB	chr11:23820766-23821130	IMR90	lung:	n/a	chr11:23821104-23821117
5	CEBPB	chr11:23844250-23844479	IMR90	lung:	n/a	chr11:23844394-23844405
6	CEBPB	chr11:23829075-23829384	HepG2	liver:	n/a	chr11:23829233-23829244
7	CEBPB	chr11:23844303-23844514	HepG2	liver:	n/a	chr11:23844394-23844405
8	CEBPB	chr11:23820772-23821109	A549	lung:	n/a	n/a
9	CEBPB	chr11:23829064-23829390	IMR90	lung:	n/a	chr11:23829233-23829244
10	CTCF	chr11:23827236-23827314	ProgFib	skin:	n/a	n/a
11	E2F4	chr11:23825851-23826211	MCF10A-Er-Src	breast:	n/a	n/a
12	EP300	chr11:23831012-23831466	SK-N-SH_RA	brain:	n/a	n/a
13	EP300	chr11:23831030-23831481	SK-N-SH_RA	brain:	n/a	n/a
14	GATA3	chr11:23831175-23831759	SH-SY5Y	brain:	n/a	n/a
15	GATA3	chr11:23823719-23823970	SH-SY5Y	brain:	n/a	n/a
16	JUN	chr11:23841508-23841762	HepG2	liver:	n/a	chr11:23841640-23841653 chr11:23841641-23841650
17	JUND	chr11:23820396-23820606	HepG2	liver:	n/a	n/a
18	JUND	chr11:23840391-23840591	HepG2	liver:	n/a	n/a
19	JUND	chr11:23841496-23841802	HepG2	liver:	n/a	chr11:23841641-23841650
20	MAFK	chr11:23823403-23823581	IMR90	lung:	n/a	n/a
21	MAFK	chr11:23819607-23819735	HepG2	liver:	n/a	chr11:23819693-23819704 chr11:23819692-23819706 chr11:23819689-23819705 chr11:23819694-23819705 chr11:23819694-23819705
22	MAFK	chr11:23819589-23819801	HepG2	liver:	n/a	chr11:23819693-23819704 chr11:23819692-23819706 chr11:23819689-23819705 chr11:23819694-23819705 chr11:23819694-23819705
23	MXI1	chr11:23828886-23828951	K562	blood:	n/a	n/a
24	MYC	chr11:23817917-23817994	MCF10A-Er-Src	breast:	n/a	n/a
25	MYC	chr11:23843471-23843496	H1-hESC	embryonic stem cell:	n/a	n/a
26	NR3C1	chr11:23843986-23844197	A549	lung:	n/a	n/a
27	POLR2A	chr11:23829546-23829746	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr11:23838371-23838383	A549	lung:	n/a	n/a
29	POLR2A	chr11:23838241-23838338	A549	lung:	n/a	n/a
30	POLR2A	chr11:23818661-23818698	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr11:23830339-23830369	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr11:23828297-23828385	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr11:23826694-23826969	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr11:23828623-23828772	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr11:23823187-23823365	MCF10A-Er-Src	breast:	n/a	n/a
36	RAD21	chr11:23830994-23831379	SK-N-SH_RA	brain:	n/a	n/a
37	RAD21	chr11:23831262-23831442	SK-N-SH_RA	brain:	n/a	n/a
38	SPI1	chr11:23826478-23826682	GM12891	blood:	n/a	chr11:23826596-23826609
39	STAT3	chr11:23828915-23828947	MCF10A-Er-Src	breast:	n/a	n/a
40	STAT3	chr11:23822530-23822787	MCF10A-Er-Src	breast:	n/a	n/a

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LUZP2-1	chr11:23818254-23818516	ENSG00000255193
2	lnc-RP11-17A1.2.1-2	chr11:23826025-23826144	ENSG00000254861
3	lnc-RP11-17A1.2.1-5	chr11:23818256-23819005	NONHSAT018430
4	lnc-RP11-17A1.2.1-2	chr11:23829736-23829778	XLOC_009395
5	lnc-RP11-17A1.2.1-2	chr11:23826000-23826222	XLOC_009395

Variant related genes	Relation type
ENSG00000254861	TF binding region

Extended variants
information (count: 603 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:603 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539827956	chr11:23817917-23817918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs545176256	chr11:23817992-23817993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565342147	chr11:23818014-23818015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189564563	chr11:23818016-23818017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376027206	chr11:23818039-23818040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565028223	chr11:23818047-23818048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532123291	chr11:23818049-23818050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192427531	chr11:23818081-23818082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561242315	chr11:23818084-23818085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184760442	chr11:23818130-23818131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188827165	chr11:23818153-23818154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1528559	chr11:23818156-23818157	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs532692228	chr11:23818206-23818207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552003483	chr11:23818221-23818222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181554356	chr11:23818240-23818241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537525632	chr11:23818257-23818258	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs554178167	chr11:23818268-23818269	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs567711374	chr11:23818292-23818293	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs533884364	chr11:23818314-23818315	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs550515003	chr11:23818315-23818316	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs148446220	chr11:23818318-23818319	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs74570182	chr11:23818322-23818323	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs558803638	chr11:23818339-23818340	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs186328219	chr11:23818349-23818350	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs189524754	chr11:23818359-23818360	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs544699902	chr11:23818432-23818433	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs73423757	chr11:23818479-23818480	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs574883485	chr11:23818500-23818501	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs540571591	chr11:23818548-23818549	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs560796066	chr11:23818639-23818640	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs567048844	chr11:23818652-23818653	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs532619364	chr11:23818675-23818676	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs552767359	chr11:23818682-23818683	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs562727347	chr11:23818700-23818701	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs181599597	chr11:23818757-23818758	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs527712767	chr11:23818772-23818773	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs185875720	chr11:23818786-23818787	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs567723704	chr11:23818823-23818824	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs80279703	chr11:23818832-23818833	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs552273346	chr11:23818847-23818848	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs547392881	chr11:23818848-23818849	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs189994565	chr11:23818969-23818970	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs183272307	chr11:23819047-23819048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs4514410	chr11:23819111-23819112	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs151022486	chr11:23819113-23819114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs140878434	chr11:23819129-23819130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs556424360	chr11:23819132-23819133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs576292907	chr11:23819170-23819171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs186507347	chr11:23819202-23819203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs376595280	chr11:23819263-23819264	Enhancers	n/a	n/a	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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:23812200-23818600	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr11:23818600-23819400	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr11:23818600-23820800	Enhancers	Colon Smooth Muscle	Colon
4	chr11:23819400-23819800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr11:23819600-23820000	Enhancers	Stomach Mucosa	stomach
6	chr11:23819800-23820600	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr11:23819800-23821000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:23820200-23820600	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr11:23820400-23820800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr11:23820400-23821000	Enhancers	Rectal Smooth Muscle	rectum
11	chr11:23820800-23828200	Weak transcription	Colon Smooth Muscle	Colon
12	chr11:23821000-23822600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr11:23822600-23823400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr11:23823600-23824200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:23826200-23826800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr11:23828200-23828600	Enhancers	Colon Smooth Muscle	Colon
17	chr11:23829600-23834800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr11:23848000-23848800	Enhancers	Fetal Lung	lung

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