Variant report

Variant	nsv553570
Chromosome Location	chr11:17203765-17210885
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:127)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:127 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:17208257-17209406	K562	blood:	n/a	n/a
2	ATF1	chr11:17208539-17208866	K562	blood:	n/a	n/a
3	BHLHE40	chr11:17208483-17208824	K562	blood:	n/a	n/a
4	CBX3	chr11:17208403-17208948	K562	blood:	n/a	n/a
5	CCNT2	chr11:17208428-17208943	K562	blood:	n/a	chr11:17208723-17208743
6	CEBPB	chr11:17208421-17208897	K562	blood:	n/a	n/a
7	CEBPB	chr11:17208523-17208870	K562	blood:	n/a	n/a
8	CEBPD	chr11:17208351-17209038	K562	blood:	n/a	n/a
9	CEBPD	chr11:17208321-17209051	K562	blood:	n/a	n/a
10	CREB1	chr11:17208359-17209005	K562	blood:	n/a	n/a
11	CTCF	chr11:17210425-17210545	K562	blood:	n/a	n/a
12	CTCF	chr11:17210360-17210510	GM12878	blood:	n/a	n/a
13	CTCF	chr11:17210435-17210503	Gliobla	brain:	n/a	n/a
14	CTCF	chr11:17210368-17210559	K562	blood:	n/a	n/a
15	CTCF	chr11:17210560-17210710	GM12866	blood:	n/a	n/a
16	CTCF	chr11:17210400-17210550	HRPEpiC	eye:	n/a	n/a
17	CTCF	chr11:17210426-17210507	HepG2	liver:	n/a	n/a
18	CTCF	chr11:17210400-17210550	HCPEpiC	choroid plexus:	n/a	n/a
19	CTCF	chr11:17210360-17210510	HMF	breast:	n/a	n/a
20	CTCF	chr11:17210360-17210510	HCPEpiC	choroid plexus:	n/a	n/a
21	CTCF	chr11:17210417-17210519	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr11:17210360-17210510	GM12864	blood:	n/a	n/a
23	CTCF	chr11:17210400-17210550	BJ	skin:	n/a	n/a
24	CTCF	chr11:17210428-17210541	GM12892	blood:	n/a	n/a
25	CTCF	chr11:17210500-17210650	HCM	heart:	n/a	n/a
26	CTCF	chr11:17210432-17210541	A549	lung:	n/a	n/a
27	CTCF	chr11:17210435-17210533	NHEK	skin:	n/a	n/a
28	CTCF	chr11:17210380-17210530	HPAF	blood vessel:	n/a	n/a
29	CTCF	chr11:17210403-17210561	ProgFib	skin:	n/a	n/a
30	CTCF	chr11:17210410-17210550	GM12878	blood:	n/a	n/a
31	CTCF	chr11:17210313-17210629	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr11:17210380-17210530	AG10803	skin:	n/a	n/a
33	CTCF	chr11:17210454-17210515	GM13976	blood:	n/a	n/a
34	CTCF	chr11:17210360-17210510	WERI-Rb-1	eye:	n/a	n/a
35	CTCF	chr11:17210476-17210525	GM13977	blood:	n/a	n/a
36	CTCF	chr11:17210340-17210490	HVMF	connective:	n/a	n/a
37	CTCF	chr11:17209800-17209950	GM12869	blood:	n/a	n/a
38	CTCF	chr11:17210466-17210487	MCF-7	breast:	n/a	n/a
39	CTCF	chr11:17210380-17210530	BJ	skin:	n/a	n/a
40	CTCF	chr11:17210480-17210630	GM12871	blood:	n/a	n/a
41	CTCF	chr11:17210320-17210470	HMF	breast:	n/a	n/a
42	CTCF	chr11:17210442-17210516	Fibrobl	skin:	n/a	n/a
43	CTCF	chr11:17210468-17210514	GM19239	blood:	n/a	n/a
44	CTCF	chr11:17210439-17210515	Hela-S3	cervix:	n/a	n/a
45	CTCF	chr11:17210380-17210530	HVMF	connective:	n/a	n/a
46	CUX1	chr11:17208576-17208917	K562	blood:	n/a	n/a
47	CUX1	chr11:17209285-17209417	GM12878	blood:	n/a	n/a
48	EP300	chr11:17208049-17209108	K562	blood:	n/a	chr11:17208859-17208866
49	EP300	chr11:17208531-17208928	K562	blood:	n/a	chr11:17208859-17208866
50	EP300	chr11:17208619-17208828	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:17207724-17207774	GM12891	blood:	n/a
2	chr11:17207724-17207774	Caco-2	colon:	n/a
3	chr11:17207724-17207774	RPTEC	kidney:	n/a
4	chr11:17207724-17207774	HPAEpiC	pulmonary alveolar:	n/a
5	chr11:17207724-17207774	GM12892	blood:	n/a
6	chr11:17207724-17207774	K562	blood:	n/a
7	chr11:17207724-17207774	HCM	heart:	n/a
8	chr11:17207724-17207774	NH-A	brain:	n/a
9	chr11:17207724-17207774	HIPEpiC	eye:	n/a
10	chr11:17207724-17207774	GM12878	blood:	n/a
11	chr11:17207724-17207774	CMK	blood:	n/a
12	chr11:17207724-17207774	A549	lung:	n/a
13	chr11:17207724-17207774	SK-N-MC	brain:	n/a
14	chr11:17207724-17207774	HAEpiC	amniotic membrane:	n/a
15	chr11:17207724-17207774	HRE	kidney:	n/a
16	chr11:17207724-17207774	HL-60	blood:	n/a
17	chr11:17207724-17207774	AG04449	skin:	fetal
18	chr11:17207724-17207774	HMEC	breast:	n/a
19	chr11:17207724-17207774	H1-hESC	embryonic stem cell:	embryo
20	chr11:17207724-17207774	ECC-1	luminal epithelium:	n/a
21	chr11:17207724-17207774	HNPCEpiC	eye:	n/a
22	chr11:17207724-17207774	PANC-1	pancreas:	n/a
23	chr11:17207724-17207774	U87	brain:	n/a
24	chr11:17207724-17207774	AG04450	lung:	fetal
25	chr11:17207724-17207774	AG09319	gingival:	n/a
26	chr11:17207724-17207774	GM19239	blood:	n/a
27	chr11:17207724-17207774	MCF10A-Er-Src	breast:	n/a
28	chr11:17207724-17207774	NHBE	bronchial:	n/a
29	chr11:17207724-17207774	LNCaP	prostate:	n/a
30	chr11:17207724-17207774	ovcar-3	ovarian:	n/a
31	chr11:17207724-17207774	PrEC	prostate:	n/a
32	chr11:17207724-17207774	T-47D	breast:	n/a
33	chr11:17207724-17207774	HepG2	liver:	n/a
34	chr11:17207724-17207774	Jurkat	blood:	n/a
35	chr11:17207724-17207774	HEEpiC	esophagus:	n/a
36	chr11:17207724-17207774	HCF	heart:	n/a
37	chr11:17207724-17207774	MCF-7	breast:	n/a
38	chr11:17207724-17207774	AoSMC	blood vessel:	n/a
39	chr11:17207724-17207774	Hepatocyte	liver:	n/a
40	chr11:17207724-17207774	HCPEpiC	choroid plexus:	n/a
41	chr11:17207724-17207774	SK-N-SH_RA	brain:	n/a
42	chr11:17207724-17207774	ProgFib	skin:	n/a
43	chr11:17207724-17207774	BE2_C	brain:	n/a
44	chr11:17207724-17207774	GM06990	blood:	n/a
45	chr11:17207724-17207774	AG09309	skin:	n/a
46	chr11:17207724-17207774	SAEC	small airway:	n/a
47	chr11:17207724-17207774	HRCEpiC	kidney:	n/a
48	chr11:17207724-17207774	IMR90	lung:	fetal
49	chr11:17207724-17207774	NT2-D1	testis:	n/a
50	chr11:17207724-17207774	SKMC	muscle:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr11:17207589..17210389-chr11:17212889..17214960,2	MCF-7	breast:
2	chr11:17193774..17196751-chr11:17204153..17207102,2	K562	blood:
3	chr11:17209348..17211957-chr11:17213326..17215244,2	K562	blood:
4	chr11:17201544..17204843-chr11:17207859..17210741,3	K562	blood:
5	chr11:17206803..17209141-chr11:17217436..17220407,2	MCF-7	breast:
6	chr11:17200195..17203044-chr11:17207705..17210741,3	K562	blood:
7	chr11:17201544..17204843-chr11:17207859..17210741,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000213779	TF binding region
ENSG00000213779	CpG island
ENSG00000213779	chromatin interactions

Extended variants
information (count: 252 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:252 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs621246	chr11:17203765-17203766	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs61879731	chr11:17203784-17203785	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs573231245	chr11:17203808-17203809	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12295187	chr11:17203818-17203819	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs540609764	chr11:17203853-17203854	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142154846	chr11:17203900-17203901	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74925119	chr11:17203958-17203959	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572983792	chr11:17203990-17203991	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544262143	chr11:17204017-17204018	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185742312	chr11:17204093-17204094	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs578068060	chr11:17204109-17204110	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569214477	chr11:17204115-17204116	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77822950	chr11:17204116-17204117	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11453658	chr11:17204133-17204134	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374008969	chr11:17204216-17204217	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144634200	chr11:17204253-17204254	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563788465	chr11:17204265-17204266	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532862838	chr11:17204353-17204354	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575910024	chr11:17204419-17204420	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs56314267	chr11:17204427-17204428	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs372841802	chr11:17204434-17204435	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561509267	chr11:17204444-17204445	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs522619	chr11:17204448-17204449	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs189939469	chr11:17204453-17204454	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs564682647	chr11:17204459-17204460	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs530703440	chr11:17204465-17204466	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs117647718	chr11:17204531-17204532	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs148232047	chr11:17204535-17204536	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs372243378	chr11:17204560-17204561	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs569032011	chr11:17204569-17204570	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs536528269	chr11:17204586-17204587	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs548224094	chr11:17204706-17204707	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs111991564	chr11:17204713-17204714	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs566662869	chr11:17204742-17204743	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs534027573	chr11:17204785-17204786	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs635802	chr11:17204793-17204794	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs578152158	chr11:17204826-17204827	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs141144460	chr11:17204839-17204840	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs12270787	chr11:17204843-17204844	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs373725220	chr11:17204859-17204860	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs377100243	chr11:17204872-17204873	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs543289451	chr11:17204885-17204886	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555002199	chr11:17204896-17204897	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs372134207	chr11:17204921-17204922	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs573097016	chr11:17204977-17204978	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs540427541	chr11:17205005-17205006	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs564595426	chr11:17205018-17205019	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs567534218	chr11:17205032-17205033	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs532102089	chr11:17205036-17205037	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs544005981	chr11:17205038-17205039	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
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
small cell lung cancer	20016488	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	21858162	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Lung adenocarcinoma	17086460	CNVD
Urothelial cell carcinoma	18451213	CNVD
Lung cancer	17086460	CNVD
Uterine serous papillary cancer	19536090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17130200-17203800	Weak transcription	Aorta	Aorta
2	chr11:17156600-17219200	Weak transcription	HSMMtube	muscle
3	chr11:17158000-17215600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr11:17165200-17215200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr11:17167400-17204400	Weak transcription	Thymus	Thymus
6	chr11:17167400-17212600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr11:17167400-17228000	Weak transcription	Fetal Thymus	thymus
8	chr11:17172600-17214600	Weak transcription	Fetal Brain Female	brain
9	chr11:17184800-17228800	Weak transcription	Esophagus	oesophagus
10	chr11:17185800-17207400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr11:17185800-17212800	Weak transcription	Pancreas	Pancrea
12	chr11:17187000-17212600	Weak transcription	Brain Hippocampus Middle	brain
13	chr11:17187000-17228000	Weak transcription	Colonic Mucosa	Colon
14	chr11:17187200-17207200	Weak transcription	K562	blood
15	chr11:17187200-17210000	Weak transcription	Psoas Muscle	Psoas
16	chr11:17187200-17210000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr11:17187200-17212600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr11:17187200-17214000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr11:17187200-17214200	Weak transcription	Right Ventricle	heart
20	chr11:17187200-17226800	Weak transcription	Small Intestine	intestine
21	chr11:17191000-17203800	Weak transcription	Liver	Liver
22	chr11:17191000-17204000	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr11:17191000-17207600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr11:17191000-17210000	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr11:17191000-17210200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr11:17191000-17220600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr11:17191200-17204200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr11:17191200-17204400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr11:17191200-17204800	Weak transcription	Primary T cells from cord blood	blood
30	chr11:17191200-17208600	Weak transcription	GM12878-XiMat	blood
31	chr11:17191200-17209800	Weak transcription	Fetal Muscle Leg	muscle
32	chr11:17191200-17210000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr11:17191200-17210000	Weak transcription	Fetal Muscle Trunk	muscle
34	chr11:17191200-17212200	Weak transcription	Primary hematopoietic stem cells	blood
35	chr11:17191200-17212400	Weak transcription	Primary B cells from peripheral blood	blood
36	chr11:17191200-17212600	Weak transcription	Duodenum Mucosa	Duodenum
37	chr11:17191200-17213000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr11:17191200-17213000	Weak transcription	Dnd41	blood
39	chr11:17191200-17227800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr11:17191400-17206600	Weak transcription	Primary B cells from cord blood	blood
41	chr11:17191400-17212800	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr11:17191400-17213000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr11:17191400-17214400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr11:17191600-17203800	Weak transcription	Fetal Lung	lung
45	chr11:17191600-17212200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr11:17191800-17212400	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr11:17191800-17212800	Weak transcription	Fetal Kidney	kidney
48	chr11:17192000-17214400	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr11:17192400-17204000	Weak transcription	HepG2	liver
50	chr11:17192400-17214400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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