Variant report

Variant	nsv553569
Chromosome Location	chr11:17201219-17211182
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:130)
CpG islands
(count:61)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:130 , 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	ATF1	chr11:17201255-17201359	K562	blood:	n/a	n/a
4	BHLHE40	chr11:17208483-17208824	K562	blood:	n/a	n/a
5	CBX3	chr11:17208403-17208948	K562	blood:	n/a	n/a
6	CCNT2	chr11:17208428-17208943	K562	blood:	n/a	chr11:17208723-17208743
7	CEBPB	chr11:17208523-17208870	K562	blood:	n/a	n/a
8	CEBPB	chr11:17208421-17208897	K562	blood:	n/a	n/a
9	CEBPD	chr11:17208351-17209038	K562	blood:	n/a	n/a
10	CEBPD	chr11:17208321-17209051	K562	blood:	n/a	n/a
11	CREB1	chr11:17208359-17209005	K562	blood:	n/a	n/a
12	CTCF	chr11:17210360-17210510	WERI-Rb-1	eye:	n/a	n/a
13	CTCF	chr11:17210400-17210550	BJ	skin:	n/a	n/a
14	CTCF	chr11:17210313-17210629	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr11:17210435-17210533	NHEK	skin:	n/a	n/a
16	CTCF	chr11:17210560-17210710	GM12866	blood:	n/a	n/a
17	CTCF	chr11:17202660-17202810	AG09309	skin:	n/a	n/a
18	CTCF	chr11:17210432-17210541	A549	lung:	n/a	n/a
19	CTCF	chr11:17210403-17210561	ProgFib	skin:	n/a	n/a
20	CTCF	chr11:17210320-17210470	HMF	breast:	n/a	n/a
21	CTCF	chr11:17210368-17210559	K562	blood:	n/a	n/a
22	CTCF	chr11:17210340-17210490	HVMF	connective:	n/a	n/a
23	CTCF	chr11:17210360-17210510	GM12878	blood:	n/a	n/a
24	CTCF	chr11:17210435-17210503	Gliobla	brain:	n/a	n/a
25	CTCF	chr11:17210360-17210510	GM12864	blood:	n/a	n/a
26	CTCF	chr11:17210468-17210514	GM19239	blood:	n/a	n/a
27	CTCF	chr11:17210360-17210510	HCPEpiC	choroid plexus:	n/a	n/a
28	CTCF	chr11:17210480-17210630	GM12871	blood:	n/a	n/a
29	CTCF	chr11:17210426-17210507	HepG2	liver:	n/a	n/a
30	CTCF	chr11:17210400-17210550	HRPEpiC	eye:	n/a	n/a
31	CTCF	chr11:17210400-17210550	HCPEpiC	choroid plexus:	n/a	n/a
32	CTCF	chr11:17210439-17210515	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr11:17210428-17210541	GM12892	blood:	n/a	n/a
34	CTCF	chr11:17209800-17209950	GM12869	blood:	n/a	n/a
35	CTCF	chr11:17210410-17210550	GM12878	blood:	n/a	n/a
36	CTCF	chr11:17210380-17210530	AG10803	skin:	n/a	n/a
37	CTCF	chr11:17210466-17210487	MCF-7	breast:	n/a	n/a
38	CTCF	chr11:17210442-17210516	Fibrobl	skin:	n/a	n/a
39	CTCF	chr11:17210380-17210530	HVMF	connective:	n/a	n/a
40	CTCF	chr11:17210360-17210510	HMF	breast:	n/a	n/a
41	CTCF	chr11:17210476-17210525	GM13977	blood:	n/a	n/a
42	CTCF	chr11:17210500-17210650	HCM	heart:	n/a	n/a
43	CTCF	chr11:17210380-17210530	BJ	skin:	n/a	n/a
44	CTCF	chr11:17210417-17210519	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr11:17210380-17210530	HPAF	blood vessel:	n/a	n/a
46	CTCF	chr11:17210425-17210545	K562	blood:	n/a	n/a
47	CTCF	chr11:17210454-17210515	GM13976	blood:	n/a	n/a
48	CUX1	chr11:17209285-17209417	GM12878	blood:	n/a	n/a
49	CUX1	chr11:17208576-17208917	K562	blood:	n/a	n/a
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	PFSK-1	brain:	n/a
2	chr11:17207724-17207774	HCF	heart:	n/a
3	chr11:17207724-17207774	U87	brain:	n/a
4	chr11:17207724-17207774	HUVEC	blood vessel:	n/a
5	chr11:17207724-17207774	HepG2	liver:	n/a
6	chr11:17207724-17207774	GM12892	blood:	n/a
7	chr11:17207724-17207774	NHBE	bronchial:	n/a
8	chr11:17207724-17207774	SKMC	muscle:	n/a
9	chr11:17207724-17207774	HMEC	breast:	n/a
10	chr11:17207724-17207774	SK-N-MC	brain:	n/a
11	chr11:17207724-17207774	SK-N-SH_RA	brain:	n/a
12	chr11:17207724-17207774	ovcar-3	ovarian:	n/a
13	chr11:17207724-17207774	HPAEpiC	pulmonary alveolar:	n/a
14	chr11:17207724-17207774	NB4	blood:	n/a
15	chr11:17207724-17207774	HAEpiC	amniotic membrane:	n/a
16	chr11:17207724-17207774	Jurkat	blood:	n/a
17	chr11:17207724-17207774	MCF10A-Er-Src	breast:	n/a
18	chr11:17207724-17207774	GM12878	blood:	n/a
19	chr11:17207724-17207774	GM06990	blood:	n/a
20	chr11:17207724-17207774	AoSMC	blood vessel:	n/a
21	chr11:17207724-17207774	AG09319	gingival:	n/a
22	chr11:17207724-17207774	Hela-S3	cervix:	n/a
23	chr11:17207724-17207774	AG09309	skin:	n/a
24	chr11:17207724-17207774	HCM	heart:	n/a
25	chr11:17207724-17207774	GM12891	blood:	n/a
26	chr11:17207724-17207774	RPTEC	kidney:	n/a
27	chr11:17207724-17207774	ECC-1	luminal epithelium:	n/a
28	chr11:17207724-17207774	PANC-1	pancreas:	n/a
29	chr11:17207724-17207774	CMK	blood:	n/a
30	chr11:17207724-17207774	NT2-D1	testis:	n/a
31	chr11:17207724-17207774	BE2_C	brain:	n/a
32	chr11:17207724-17207774	HIPEpiC	eye:	n/a
33	chr11:17207724-17207774	A549	lung:	n/a
34	chr11:17207724-17207774	Caco-2	colon:	n/a
35	chr11:17207724-17207774	HL-60	blood:	n/a
36	chr11:17207724-17207774	SK-N-SH	brain:	n/a
37	chr11:17207724-17207774	HCPEpiC	choroid plexus:	n/a
38	chr11:17207724-17207774	HRCEpiC	kidney:	n/a
39	chr11:17207724-17207774	T-47D	breast:	n/a
40	chr11:17207724-17207774	IMR90	lung:	fetal
41	chr11:17207724-17207774	MCF-7	breast:	n/a
42	chr11:17207724-17207774	HNPCEpiC	eye:	n/a
43	chr11:17207724-17207774	SAEC	small airway:	n/a
44	chr11:17207724-17207774	GM19239	blood:	n/a
45	chr11:17207724-17207774	HRPEpiC	eye:	n/a
46	chr11:17207724-17207774	NH-A	brain:	n/a
47	chr11:17207724-17207774	HCT-116	colon:	n/a
48	chr11:17207724-17207774	HEEpiC	esophagus:	n/a
49	chr11:17207724-17207774	AG10803	skin:	n/a
50	chr11:17207724-17207774	LNCaP	prostate:	n/a

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:17202421..17202921-chr13:22177633..22178504,2	NB4	blood:
2	chr11:17206803..17209141-chr11:17217436..17220407,2	MCF-7	breast:
3	chr11:17201544..17204843-chr11:17207859..17210741,3	K562	blood:
4	chr11:17196415..17198675-chr11:17200267..17202983,2	K562	blood:
5	chr11:17200195..17203044-chr11:17207705..17210741,3	K562	blood:
6	chr11:17193774..17196751-chr11:17204153..17207102,2	K562	blood:
7	chr11:17207589..17210389-chr11:17212889..17214960,2	MCF-7	breast:
8	chr11:17200195..17203044-chr11:17207705..17210741,3	K562	blood:
9	chr11:17209348..17211957-chr11:17213326..17215244,2	K562	blood:
10	chr11:17201544..17204843-chr11:17207859..17210741,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000213779	TF binding region
ENSG00000213779	CpG island
ENSG00000165487	chromatin interactions
ENSG00000213779	chromatin interactions

Extended variants
information (count: 381 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:381 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7934596	chr11:17201219-17201220	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs540024565	chr11:17201334-17201335	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557918394	chr11:17201381-17201382	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185491593	chr11:17201407-17201408	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556923081	chr11:17201419-17201420	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191029916	chr11:17201426-17201427	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565210549	chr11:17201445-17201446	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576957533	chr11:17201471-17201472	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561969028	chr11:17201495-17201496	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573872500	chr11:17201499-17201500	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563945393	chr11:17201527-17201528	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189420354	chr11:17201544-17201545	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559105583	chr11:17201596-17201597	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532987665	chr11:17201686-17201687	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552249475	chr11:17201687-17201688	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs564281111	chr11:17201689-17201690	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs201143324	chr11:17201691-17201692	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs112307671	chr11:17201695-17201696	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549911631	chr11:17201713-17201714	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs182920574	chr11:17201752-17201753	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs535790805	chr11:17201764-17201765	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs578023713	chr11:17201799-17201800	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs566258370	chr11:17201801-17201802	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540088269	chr11:17201830-17201831	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142190510	chr11:17201837-17201838	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576205338	chr11:17201873-17201874	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371442756	chr11:17201957-17201958	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555082410	chr11:17201998-17201999	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190952012	chr11:17202006-17202007	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12291561	chr11:17202037-17202038	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs202239069	chr11:17202047-17202048	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545549896	chr11:17202049-17202050	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559269400	chr11:17202065-17202066	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200815542	chr11:17202068-17202069	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201764382	chr11:17202075-17202076	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79271765	chr11:17202076-17202077	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544813023	chr11:17202079-17202080	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs397849266	chr11:17202086-17202087	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564195842	chr11:17202145-17202146	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531736211	chr11:17202161-17202162	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184043596	chr11:17202163-17202164	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187858631	chr11:17202182-17202183	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528848886	chr11:17202266-17202267	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs547013291	chr11:17202282-17202283	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs529318306	chr11:17202305-17202306	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs151276427	chr11:17202319-17202320	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs566383025	chr11:17202332-17202333	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs559024030	chr11:17202333-17202334	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs140445102	chr11:17202336-17202337	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs114403567	chr11:17202342-17202343	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:269 , 50 per page) page: 1 2 3 4 5 6

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	chr11:17189400-17203200	Weak transcription	Fetal Stomach	stomach
22	chr11:17191000-17203800	Weak transcription	Liver	Liver
23	chr11:17191000-17204000	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr11:17191000-17207600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr11:17191000-17210000	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr11:17191000-17210200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr11:17191000-17220600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr11:17191200-17201600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr11:17191200-17202600	Weak transcription	Fetal Intestine Large	intestine
30	chr11:17191200-17204200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr11:17191200-17204400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr11:17191200-17204800	Weak transcription	Primary T cells from cord blood	blood
33	chr11:17191200-17208600	Weak transcription	GM12878-XiMat	blood
34	chr11:17191200-17209800	Weak transcription	Fetal Muscle Leg	muscle
35	chr11:17191200-17210000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr11:17191200-17210000	Weak transcription	Fetal Muscle Trunk	muscle
37	chr11:17191200-17212200	Weak transcription	Primary hematopoietic stem cells	blood
38	chr11:17191200-17212400	Weak transcription	Primary B cells from peripheral blood	blood
39	chr11:17191200-17212600	Weak transcription	Duodenum Mucosa	Duodenum
40	chr11:17191200-17213000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr11:17191200-17213000	Weak transcription	Dnd41	blood
42	chr11:17191200-17227800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr11:17191400-17202600	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr11:17191400-17206600	Weak transcription	Primary B cells from cord blood	blood
45	chr11:17191400-17212800	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr11:17191400-17213000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr11:17191400-17214400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr11:17191600-17203200	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr11:17191600-17203800	Weak transcription	Fetal Lung	lung
50	chr11:17191600-17212200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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