Variant report

Variant	nsv897489
Chromosome Location	chr11:49416913-49570587
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	chr11:49539385-49539635	HepG2	liver:	n/a	chr11:49539560-49539571
2	CEBPB	chr11:49464313-49464513	HepG2	liver:	n/a	chr11:49464339-49464350
3	CEBPB	chr11:49464233-49464511	Hela-S3	cervix:	n/a	chr11:49464339-49464350
4	CEBPB	chr11:49490231-49490541	K562	blood:	n/a	n/a
5	CEBPB	chr11:49490254-49490445	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr11:49490187-49490529	IMR90	lung:	n/a	n/a
7	CEBPB	chr11:49490202-49490505	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr11:49441094-49441294	HepG2	liver:	n/a	chr11:49441253-49441264
9	CEBPB	chr11:49502468-49502676	A549	lung:	n/a	n/a
10	CEBPB	chr11:49490218-49490477	HepG2	liver:	n/a	n/a
11	CEBPB	chr11:49509838-49510050	HepG2	liver:	n/a	chr11:49509962-49509973
12	CEBPB	chr11:49539391-49539648	IMR90	lung:	n/a	chr11:49539560-49539571
13	CTCF	chr11:49548060-49548210	RPTEC	kidney:	n/a	n/a
14	CTCF	chr11:49547859-49548097	MCF-7	breast:	n/a	chr11:49547983-49548004 chr11:49547988-49548006
15	CTCF	chr11:49547980-49548130	NHDF-neo	bronchial:	n/a	chr11:49547983-49548004 chr11:49547988-49548006
16	CTCF	chr11:49547857-49548142	IMR90	lung:	n/a	chr11:49547983-49548004 chr11:49547988-49548006
17	CTCF	chr11:49548060-49548210	HVMF	connective:	n/a	n/a
18	CTCF	chr11:49430923-49431000	GM20000	blood:	n/a	n/a
19	CTCF	chr11:49547940-49548090	HEK293	kidney:	n/a	chr11:49547983-49548004 chr11:49547988-49548006
20	CTCF	chr11:49476003-49476107	LNCaP	prostate:	n/a	n/a
21	CTCF	chr11:49547879-49548061	H1-hESC	embryonic stem cell:	n/a	chr11:49547983-49548004 chr11:49547988-49548006
22	CTCF	chr11:49547834-49548143	MCF-7	breast:	n/a	chr11:49547983-49548004 chr11:49547988-49548006
23	CTCF	chr11:49455867-49456208	K562	blood:	n/a	n/a
24	CTCF	chr11:49547840-49547990	GM12864	blood:	n/a	n/a
25	CTCF	chr11:49547900-49548050	HA-sp	spinal cord:	n/a	chr11:49547983-49548004 chr11:49547988-49548006
26	CTCF	chr11:49547900-49548050	HRPEpiC	eye:	n/a	chr11:49547983-49548004 chr11:49547988-49548006
27	CTCF	chr11:49547762-49548176	T-47D	breast:	n/a	chr11:49547983-49548004 chr11:49547988-49548006
28	CTCF	chr11:49548060-49548210	GM12878	blood:	n/a	n/a
29	CTCF	chr11:49547827-49548169	MCF-7	breast:	n/a	chr11:49547983-49548004 chr11:49547988-49548006
30	CTCF	chr11:49547920-49548070	GM06990	blood:	n/a	chr11:49547983-49548004 chr11:49547988-49548006
31	CTCF	chr11:49557837-49557842	GM13976	blood:	n/a	n/a
32	CTCF	chr11:49547900-49548050	HEK293	kidney:	n/a	chr11:49547983-49548004 chr11:49547988-49548006
33	CTCF	chr11:49456060-49456115	GM12892	blood:	n/a	n/a
34	CTCF	chr11:49547940-49548090	GM12874	blood:	n/a	chr11:49547983-49548004 chr11:49547988-49548006
35	CTCF	chr11:49547900-49548050	GM12801	blood:	n/a	chr11:49547983-49548004 chr11:49547988-49548006
36	CTCF	chr11:49547842-49548154	GM19238	blood:	n/a	chr11:49547983-49548004 chr11:49547988-49548006
37	CTCF	chr11:49417357-49417438	GM13976	blood:	n/a	n/a
38	CTCF	chr11:49548060-49548210	HCM	heart:	n/a	n/a
39	CTCF	chr11:49547768-49548202	A549	lung:	n/a	chr11:49547983-49548004 chr11:49547988-49548006
40	CTCF	chr11:49547840-49547990	MCF-7	breast:	n/a	n/a
41	CTCF	chr11:49547820-49547970	HCT-116	colon:	n/a	n/a
42	CTCF	chr11:49547780-49547930	GM12867	blood:	n/a	n/a
43	CTCF	chr11:49547822-49548112	MCF-7	breast:	n/a	chr11:49547983-49548004 chr11:49547988-49548006
44	CTCF	chr11:49547861-49548136	T-47D	breast:	n/a	chr11:49547983-49548004 chr11:49547988-49548006
45	CTCF	chr11:49547900-49548050	HCPEpiC	choroid plexus:	n/a	chr11:49547983-49548004 chr11:49547988-49548006
46	CTCF	chr11:49547960-49548110	K562	blood:	n/a	chr11:49547983-49548004 chr11:49547988-49548006
47	CTCF	chr11:49455911-49456036	GM12891	blood:	n/a	n/a
48	CTCF	chr11:49548131-49548177	GM12892	blood:	n/a	n/a
49	CTCF	chr11:49547940-49548090	GM12864	blood:	n/a	chr11:49547983-49548004 chr11:49547988-49548006
50	CTCF	chr11:49547840-49547990	GM12869	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:49455166-49455216	HUVEC	blood vessel:	n/a
2	chr11:49455214-49455264	NT2-D1	testis:	n/a
3	chr11:49455936-49455986	RPTEC	kidney:	n/a
4	chr11:49455936-49455986	SK-N-SH_RA	brain:	n/a
5	chr11:49458195-49458245	H1-hESC	embryonic stem cell:	embryo
6	chr11:49456196-49456246	Jurkat	blood:	n/a
7	chr11:49455936-49455986	GM12891	blood:	n/a
8	chr11:49455851-49455901	HepG2	liver:	n/a
9	chr11:49455164-49455214	T-47D	breast:	n/a
10	chr11:49455936-49455986	HMEC	breast:	n/a
11	chr11:49455166-49455216	K562	blood:	n/a
12	chr11:49456067-49456117	HPAEpiC	pulmonary alveolar:	n/a
13	chr11:49455936-49455986	HPAEpiC	pulmonary alveolar:	n/a
14	chr11:49456196-49456246	ECC-1	luminal epithelium:	n/a
15	chr11:49455166-49455216	Caco-2	colon:	n/a
16	chr11:49455214-49455264	IMR90	lung:	fetal
17	chr11:49455164-49455214	IMR90	lung:	fetal
18	chr11:49455166-49455216	SKMC	muscle:	n/a
19	chr11:49456196-49456246	CMK	blood:	n/a
20	chr11:49455164-49455214	SKMC	muscle:	n/a
21	chr11:49455851-49455901	PFSK-1	brain:	n/a
22	chr11:49455214-49455264	K562	blood:	n/a
23	chr11:49455936-49455986	U87	brain:	n/a
24	chr11:49455214-49455264	HNPCEpiC	eye:	n/a
25	chr11:49455936-49455986	HRE	kidney:	n/a
26	chr11:49455851-49455901	AoSMC	blood vessel:	n/a
27	chr11:49456067-49456117	HIPEpiC	eye:	n/a
28	chr11:49456196-49456246	BE2_C	brain:	n/a
29	chr11:49458195-49458245	HEEpiC	esophagus:	n/a
30	chr11:49455851-49455901	MCF10A-Er-Src	breast:	n/a
31	chr11:49455936-49455986	MCF10A-Er-Src	breast:	n/a
32	chr11:49455166-49455216	AG09309	skin:	n/a
33	chr11:49456196-49456246	T-47D	breast:	n/a
34	chr11:49455936-49455986	HCM	heart:	n/a
35	chr11:49455851-49455901	H1-hESC	embryonic stem cell:	embryo
36	chr11:49455164-49455214	HMEC	breast:	n/a
37	chr11:49455214-49455264	ECC-1	luminal epithelium:	n/a
38	chr11:49458195-49458245	AG10803	skin:	n/a
39	chr11:49453027-49453077	NHBE	bronchial:	n/a
40	chr11:49455936-49455986	AoSMC	blood vessel:	n/a
41	chr11:49455164-49455214	HRCEpiC	kidney:	n/a
42	chr11:49455214-49455264	ProgFib	skin:	n/a
43	chr11:49456196-49456246	AG09309	skin:	n/a
44	chr11:49458195-49458245	SKMC	muscle:	n/a
45	chr11:49455166-49455216	HEEpiC	esophagus:	n/a
46	chr11:49453027-49453077	HRE	kidney:	n/a
47	chr11:49455164-49455214	BE2_C	brain:	n/a
48	chr11:49453027-49453077	AG10803	skin:	n/a
49	chr11:49456067-49456117	HMEC	breast:	n/a
50	chr11:49455214-49455264	U87	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:49250422..49251012-chr11:49547571..49548253,2	MCF-7	breast:
2	chr11:49251863..49252437-chr11:49547367..49548407,3	MCF-7	breast:
3	chr11:49547545..49548055-chr11:50016701..50017446,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC084851.1-9	chr11:49453962-49453989	NONHSAT021316
2	lnc-AC084851.1-8	chr11:49427742-49428266	NONHSAT021315
3	lnc-AC084851.1-9	chr11:49454982-49456076	NONHSAT021316

Variant related genes	Relation type
TYRL	TF binding region
ENSG00000226268	TF binding region
CBX3P8	TF binding region
TYRL	CpG island
ENSG00000226268	CpG island
CBX3P8	CpG island

Extended variants
information (count: 482 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:482 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1818910	chr11:49416913-49416914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs180705614	chr11:49416937-49416938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186005265	chr11:49416964-49416965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs115149792	chr11:49417031-49417032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs578132617	chr11:49417075-49417076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs543504202	chr11:49417190-49417191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs11040355	chr11:49417192-49417193	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs151314072	chr11:49417205-49417206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs371903243	chr11:49417244-49417245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs191302643	chr11:49417273-49417274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569379759	chr11:49417304-49417305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs181368097	chr11:49417386-49417387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs553128703	chr11:49417425-49417426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528334366	chr11:49417483-49417484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544935108	chr11:49417489-49417490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs374428701	chr11:49417521-49417522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565068624	chr11:49417565-49417566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs367879162	chr11:49417584-49417585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs530663340	chr11:49417654-49417655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs186032597	chr11:49417666-49417667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs7944296	chr11:49417675-49417676	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs34151717	chr11:49417683-49417684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs371705245	chr11:49417800-49417801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs72910354	chr11:49417805-49417806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs190791285	chr11:49417839-49417840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs112978545	chr11:49417843-49417844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs374826620	chr11:49417856-49417857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs183354693	chr11:49417912-49417913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs1917313	chr11:49417913-49417914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs571805394	chr11:49417914-49417915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs187705056	chr11:49417990-49417991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs371487298	chr11:49417991-49417992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs114301799	chr11:49418017-49418018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs374322151	chr11:49418028-49418029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs573624303	chr11:49418132-49418133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs544051803	chr11:49418150-49418151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs12294396	chr11:49418158-49418159	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs572533375	chr11:49418168-49418169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs553328802	chr11:49418175-49418176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs191997846	chr11:49418185-49418186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs115528647	chr11:49418221-49418222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs182672293	chr11:49418255-49418256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs111536656	chr11:49418281-49418282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs541155127	chr11:49418283-49418284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs559404517	chr11:49418353-49418354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs561152189	chr11:49418363-49418364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs529391549	chr11:49418365-49418366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs145994146	chr11:49418490-49418491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs139945026	chr11:49418496-49418497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs377082141	chr11:49418528-49418529	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:48)

Disease	PMID	Source
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
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22581003	CNVD
Breast cancer	21990379	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:49416800-49418600	Enhancers	Fetal Heart	heart
2	chr11:49418200-49418600	Enhancers	Right Atrium	heart
3	chr11:49427200-49427600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr11:49444600-49445600	Enhancers	Brain Hippocampus Middle	brain
5	chr11:49445200-49445800	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr11:49445200-49446000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr11:49445200-49446000	Enhancers	Brain Angular Gyrus	brain
8	chr11:49445200-49446400	Enhancers	Brain Cingulate Gyrus	brain
9	chr11:49445400-49445600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr11:49445400-49446000	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr11:49445600-49446000	Active TSS	Brain Anterior Caudate	brain
12	chr11:49445600-49446000	Active TSS	Brain Hippocampus Middle	brain
13	chr11:49445600-49446400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr11:49446000-49446400	Enhancers	Brain Anterior Caudate	brain
15	chr11:49446000-49447000	Weak transcription	Brain Angular Gyrus	brain
16	chr11:49447000-49447200	Enhancers	Brain Angular Gyrus	brain
17	chr11:49447000-49447400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr11:49453000-49453400	Enhancers	Fetal Heart	heart
19	chr11:49458000-49458400	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr11:49458400-49458800	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr11:49458400-49459200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr11:49458800-49459200	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr11:49459000-49460400	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr11:49459600-49460600	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr11:49460000-49460600	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr11:49460200-49461400	Enhancers	Liver	Liver
27	chr11:49526400-49526800	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr11:49526400-49526800	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr11:49526600-49527400	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr11:49526800-49527200	Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr11:49527000-49527400	Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr11:49527000-49527400	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr11:49527200-49527400	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr11:49544200-49544400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr11:49545000-49545200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr11:49551400-49552200	Enhancers	Liver	Liver

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