Variant report

Variant	nsv897488
Chromosome Location	chr11:49405112-49570587
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	chr11:49464313-49464513	HepG2	liver:	n/a	chr11:49464339-49464350
2	CEBPB	chr11:49410762-49410940	HepG2	liver:	n/a	n/a
3	CEBPB	chr11:49539385-49539635	HepG2	liver:	n/a	chr11:49539560-49539571
4	CEBPB	chr11:49490202-49490505	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr11:49490218-49490477	HepG2	liver:	n/a	n/a
6	CEBPB	chr11:49490231-49490541	K562	blood:	n/a	n/a
7	CEBPB	chr11:49490254-49490445	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPB	chr11:49539391-49539648	IMR90	lung:	n/a	chr11:49539560-49539571
9	CEBPB	chr11:49509838-49510050	HepG2	liver:	n/a	chr11:49509962-49509973
10	CEBPB	chr11:49490187-49490529	IMR90	lung:	n/a	n/a
11	CEBPB	chr11:49441094-49441294	HepG2	liver:	n/a	chr11:49441253-49441264
12	CEBPB	chr11:49464233-49464511	Hela-S3	cervix:	n/a	chr11:49464339-49464350
13	CEBPB	chr11:49502468-49502676	A549	lung:	n/a	n/a
14	CTCF	chr11:49547820-49547993	ECC-1	luminal epithelium:	n/a	n/a
15	CTCF	chr11:49455911-49456036	GM12891	blood:	n/a	n/a
16	CTCF	chr11:49547900-49548050	GM12872	blood:	n/a	chr11:49547983-49548004 chr11:49547988-49548006
17	CTCF	chr11:49547940-49548090	GM12864	blood:	n/a	chr11:49547983-49548004 chr11:49547988-49548006
18	CTCF	chr11:49455868-49456094	K562	blood:	n/a	n/a
19	CTCF	chr11:49547870-49548144	GM10266	blood:	n/a	chr11:49547983-49548004 chr11:49547988-49548006
20	CTCF	chr11:49547842-49548154	GM19238	blood:	n/a	chr11:49547983-49548004 chr11:49547988-49548006
21	CTCF	chr11:49547820-49547970	HMEC	breast:	n/a	n/a
22	CTCF	chr11:49547859-49548045	H1-hESC	embryonic stem cell:	n/a	chr11:49547983-49548004 chr11:49547988-49548006
23	CTCF	chr11:49547866-49548086	MCF-7	breast:	n/a	chr11:49547983-49548004 chr11:49547988-49548006
24	CTCF	chr11:49547822-49548112	MCF-7	breast:	n/a	chr11:49547983-49548004 chr11:49547988-49548006
25	CTCF	chr11:49547960-49548110	K562	blood:	n/a	chr11:49547983-49548004 chr11:49547988-49548006
26	CTCF	chr11:49437125-49437149	GM20000	blood:	n/a	n/a
27	CTCF	chr11:49547900-49548050	HepG2	liver:	n/a	chr11:49547983-49548004 chr11:49547988-49548006
28	CTCF	chr11:49547920-49548070	GM12864	blood:	n/a	chr11:49547983-49548004 chr11:49547988-49548006
29	CTCF	chr11:49557845-49557868	GM13976	blood:	n/a	n/a
30	CTCF	chr11:49547940-49548090	BJ	skin:	n/a	chr11:49547983-49548004 chr11:49547988-49548006
31	CTCF	chr11:49541861-49541890	MCF-7	breast:	n/a	n/a
32	CTCF	chr11:49557837-49557842	GM13976	blood:	n/a	n/a
33	CTCF	chr11:49476391-49476475	Kidney_OC	kidney:	n/a	n/a
34	CTCF	chr11:49547800-49547950	HFF	foreskin:	n/a	n/a
35	CTCF	chr11:49547940-49548090	GM12874	blood:	n/a	chr11:49547983-49548004 chr11:49547988-49548006
36	CTCF	chr11:49548060-49548210	GM12870	blood:	n/a	n/a
37	CTCF	chr11:49556540-49556690	GM12866	blood:	n/a	n/a
38	CTCF	chr11:49538385-49538446	GM13976	blood:	n/a	n/a
39	CTCF	chr11:49547800-49547950	A549	lung:	n/a	n/a
40	CTCF	chr11:49547840-49547990	GM12866	blood:	n/a	n/a
41	CTCF	chr11:49443753-49443831	GM13976	blood:	n/a	n/a
42	CTCF	chr11:49547762-49548176	T-47D	breast:	n/a	chr11:49547983-49548004 chr11:49547988-49548006
43	CTCF	chr11:49548060-49548210	RPTEC	kidney:	n/a	n/a
44	CTCF	chr11:49547900-49548050	AG10803	skin:	n/a	chr11:49547983-49548004 chr11:49547988-49548006
45	CTCF	chr11:49547800-49547950	Caco-2	colon:	n/a	n/a
46	CTCF	chr11:49547900-49548050	HA-sp	spinal cord:	n/a	chr11:49547983-49548004 chr11:49547988-49548006
47	CTCF	chr11:49456018-49456026	GM12892	blood:	n/a	n/a
48	CTCF	chr11:49547844-49548127	HepG2	liver:	n/a	chr11:49547983-49548004 chr11:49547988-49548006
49	CTCF	chr11:49548060-49548210	GM12868	blood:	n/a	n/a
50	CTCF	chr11:49547940-49548090	HL-60	blood:	n/a	chr11:49547983-49548004 chr11:49547988-49548006

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:49455936-49455986	AG10803	skin:	n/a
2	chr11:49455936-49455986	AG10803	skin:	n/a
3	chr11:49458195-49458245	ECC-1	luminal epithelium:	n/a
4	chr11:49455936-49455986	Hepatocyte	liver:	n/a
5	chr11:49455166-49455216	HAEpiC	amniotic membrane:	n/a
6	chr11:49455214-49455264	HUVEC	blood vessel:	n/a
7	chr11:49456067-49456117	BJ	skin:	n/a
8	chr11:49455936-49455986	HRE	kidney:	n/a
9	chr11:49455936-49455986	ovcar-3	ovarian:	n/a
10	chr11:49456196-49456246	SKMC	muscle:	n/a
11	chr11:49455851-49455901	MCF10A-Er-Src	breast:	n/a
12	chr11:49453027-49453077	AG09319	gingival:	n/a
13	chr11:49455166-49455216	Caco-2	colon:	n/a
14	chr11:49453027-49453077	CMK	blood:	n/a
15	chr11:49453027-49453077	IMR90	lung:	fetal
16	chr11:49453027-49453077	HUVEC	blood vessel:	n/a
17	chr11:49455166-49455216	Hepatocyte	liver:	n/a
18	chr11:49456196-49456246	Hela-S3	cervix:	n/a
19	chr11:49453027-49453077	Hepatocyte	liver:	n/a
20	chr11:49455214-49455264	Hela-S3	cervix:	n/a
21	chr11:49456067-49456117	A549	lung:	n/a
22	chr11:49455851-49455901	T-47D	breast:	n/a
23	chr11:49458195-49458245	GM12878	blood:	n/a
24	chr11:49453027-49453077	SKMC	muscle:	n/a
25	chr11:49453027-49453077	HEEpiC	esophagus:	n/a
26	chr11:49455214-49455264	AG04450	lung:	fetal
27	chr11:49455164-49455214	PANC-1	pancreas:	n/a
28	chr11:49455936-49455986	HUVEC	blood vessel:	n/a
29	chr11:49458195-49458245	K562	blood:	n/a
30	chr11:49455166-49455216	T-47D	breast:	n/a
31	chr11:49455936-49455986	HCM	heart:	n/a
32	chr11:49455164-49455214	HCM	heart:	n/a
33	chr11:49455214-49455264	HNPCEpiC	eye:	n/a
34	chr11:49455214-49455264	HIPEpiC	eye:	n/a
35	chr11:49455166-49455216	HIPEpiC	eye:	n/a
36	chr11:49455936-49455986	HEK293	kidney:	embryo
37	chr11:49458195-49458245	AoSMC	blood vessel:	n/a
38	chr11:49456196-49456246	NB4	blood:	n/a
39	chr11:49455214-49455264	HCT-116	colon:	n/a
40	chr11:49453027-49453077	Hela-S3	cervix:	n/a
41	chr11:49455164-49455214	SK-N-SH	brain:	n/a
42	chr11:49455851-49455901	SAEC	small airway:	n/a
43	chr11:49455936-49455986	HNPCEpiC	eye:	n/a
44	chr11:49455166-49455216	MCF10A-Er-Src	breast:	n/a
45	chr11:49458195-49458245	HepG2	liver:	n/a
46	chr11:49456196-49456246	HEEpiC	esophagus:	n/a
47	chr11:49455164-49455214	LNCaP	prostate:	n/a
48	chr11:49456067-49456117	GM12892	blood:	n/a
49	chr11:49455851-49455901	NH-A	brain:	n/a
50	chr11:49456196-49456246	GM06990	blood:	n/a

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

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

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

Extended variants
information (count: 792 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:792 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11040353	chr11:49405112-49405113	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs184117562	chr11:49405119-49405120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556206087	chr11:49405144-49405145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544693735	chr11:49405196-49405197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561267651	chr11:49405248-49405249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs377144505	chr11:49405292-49405293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149600972	chr11:49405293-49405294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147271006	chr11:49405300-49405301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs71993078	chr11:49405327-49405328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530224162	chr11:49405330-49405331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187341084	chr11:49405336-49405337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs397759518	chr11:49405337-49405338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560560175	chr11:49405358-49405359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532633491	chr11:49405418-49405419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552486940	chr11:49405424-49405425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113728976	chr11:49405469-49405470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368056951	chr11:49405505-49405506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538097419	chr11:49405569-49405570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548256957	chr11:49405575-49405576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs74462122	chr11:49405607-49405608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533889552	chr11:49405608-49405609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374699942	chr11:49405637-49405638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553461381	chr11:49405660-49405661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576926695	chr11:49405664-49405665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555353467	chr11:49405683-49405684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs138427707	chr11:49405717-49405718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192288891	chr11:49405810-49405811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576299180	chr11:49405831-49405832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541621994	chr11:49405841-49405842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553630400	chr11:49405877-49405878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184347361	chr11:49405905-49405906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190236308	chr11:49406011-49406012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540739205	chr11:49406135-49406136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182458680	chr11:49406183-49406184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532399181	chr11:49406190-49406191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572080097	chr11:49406215-49406216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184207428	chr11:49406260-49406261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562885822	chr11:49406266-49406267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189576302	chr11:49406280-49406281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181218036	chr11:49406338-49406339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568659608	chr11:49406355-49406356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11826327	chr11:49406358-49406359	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs547501719	chr11:49406386-49406387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201732446	chr11:49406392-49406393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368928956	chr11:49406410-49406411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570438413	chr11:49406415-49406416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558517642	chr11:49406435-49406436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs578112088	chr11:49406440-49406441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539485483	chr11:49406451-49406452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543699028	chr11:49406462-49406463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

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	21293372	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:49405000-49408000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr11:49406600-49407400	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr11:49408000-49408400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr11:49408400-49410400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:49410400-49413200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr11:49410600-49410800	Enhancers	Brain Substantia Nigra	brain
7	chr11:49410600-49411200	Enhancers	Fetal Heart	heart
8	chr11:49410600-49411600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr11:49416800-49418600	Enhancers	Fetal Heart	heart
10	chr11:49418200-49418600	Enhancers	Right Atrium	heart
11	chr11:49427200-49427600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr11:49444600-49445600	Enhancers	Brain Hippocampus Middle	brain
13	chr11:49445200-49445800	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr11:49445200-49446000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr11:49445200-49446000	Enhancers	Brain Angular Gyrus	brain
16	chr11:49445200-49446400	Enhancers	Brain Cingulate Gyrus	brain
17	chr11:49445400-49445600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr11:49445400-49446000	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr11:49445600-49446000	Active TSS	Brain Anterior Caudate	brain
20	chr11:49445600-49446000	Active TSS	Brain Hippocampus Middle	brain
21	chr11:49445600-49446400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr11:49446000-49446400	Enhancers	Brain Anterior Caudate	brain
23	chr11:49446000-49447000	Weak transcription	Brain Angular Gyrus	brain
24	chr11:49447000-49447200	Enhancers	Brain Angular Gyrus	brain
25	chr11:49447000-49447400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr11:49453000-49453400	Enhancers	Fetal Heart	heart
27	chr11:49458000-49458400	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr11:49458400-49458800	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr11:49458400-49459200	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr11:49458800-49459200	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr11:49459000-49460400	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr11:49459600-49460600	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr11:49460000-49460600	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr11:49460200-49461400	Enhancers	Liver	Liver
35	chr11:49526400-49526800	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr11:49526400-49526800	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr11:49526600-49527400	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr11:49526800-49527200	Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr11:49527000-49527400	Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr11:49527000-49527400	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr11:49527200-49527400	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr11:49544200-49544400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr11:49545000-49545200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr11:49551400-49552200	Enhancers	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links