Variant report

Variant	nsv832158
Chromosome Location	chr11:55550160-55701309
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	BATF	chr11:55627832-55628094	GM12878	blood:	n/a	n/a
2	BATF	chr11:55634940-55635308	GM12878	blood:	n/a	chr11:55635206-55635216
3	BATF	chr11:55634919-55635279	GM12878	blood:	n/a	chr11:55635206-55635216
4	BATF	chr11:55627814-55628095	GM12878	blood:	n/a	n/a
5	BCL11A	chr11:55634987-55635226	GM12878	blood:	n/a	n/a
6	BHLHE40	chr11:55634894-55635260	GM12878	blood:	n/a	chr11:55635049-55635062 chr11:55634927-55634943
7	BRCA1	chr11:55684123-55684321	GM12878	blood:	n/a	n/a
8	CCNT2	chr11:55598241-55598440	K562	blood:	n/a	n/a
9	CEBPB	chr11:55567730-55568064	A549	lung:	n/a	chr11:55567868-55567879 chr11:55567908-55567919
10	CEBPB	chr11:55567767-55568076	HepG2	liver:	n/a	chr11:55567868-55567879 chr11:55567908-55567919
11	CEBPB	chr11:55667871-55668044	A549	lung:	n/a	n/a
12	CEBPB	chr11:55698713-55698910	A549	lung:	n/a	n/a
13	CEBPB	chr11:55679079-55679370	HepG2	liver:	n/a	chr11:55679218-55679229 chr11:55679266-55679277 chr11:55679220-55679231 chr11:55679266-55679277 chr11:55679220-55679229
14	CEBPB	chr11:55591978-55592114	HepG2	liver:	n/a	chr11:55592043-55592056 chr11:55592042-55592059 chr11:55592043-55592056 chr11:55592043-55592054 chr11:55592044-55592055
15	CEBPB	chr11:55684084-55684322	K562	blood:	n/a	n/a
16	CTCF	chr11:55662740-55662890	GM06990	blood:	n/a	n/a
17	CTCF	chr11:55658475-55658514	Kidney_OC	kidney:	n/a	n/a
18	CTCF	chr11:55640720-55640870	SK-N-SH_RA	brain:	n/a	n/a
19	CTCF	chr11:55640749-55641055	K562	blood:	n/a	chr11:55640866-55640879 chr11:55640865-55640881 chr11:55640866-55640879 chr11:55640918-55640931 chr11:55640859-55640880 chr11:55640864-55640882
20	CTCF	chr11:55640736-55640899	SK-N-SH_RA	brain:	n/a	chr11:55640866-55640879 chr11:55640865-55640881 chr11:55640866-55640879 chr11:55640859-55640880 chr11:55640864-55640882
21	CTCF	chr11:55662845-55663047	GM12878	blood:	n/a	n/a
22	CTCF	chr11:55638325-55638365	Kidney_OC	kidney:	n/a	n/a
23	CTCF	chr11:55675625-55675716	NHEK	skin:	n/a	n/a
24	CTCF	chr11:55662840-55662990	WERI-Rb-1	eye:	n/a	n/a
25	CTCF	chr11:55662820-55662970	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr11:55655615-55655655	LNCaP	prostate:	n/a	n/a
27	CTCF	chr11:55675622-55675738	MCF-7	breast:	n/a	n/a
28	CTCF	chr11:55662762-55662979	SK-N-SH_RA	brain:	n/a	n/a
29	CTCF	chr11:55640702-55641096	SK-N-SH	brain:	n/a	chr11:55640866-55640879 chr11:55640865-55640881 chr11:55640866-55640879 chr11:55640918-55640931 chr11:55640859-55640880 chr11:55640864-55640882
30	CTCF	chr11:55675538-55675738	K562	blood:	n/a	n/a
31	CTCF	chr11:55662860-55663010	HepG2	liver:	n/a	n/a
32	CTCF	chr11:55662880-55663030	GM12867	blood:	n/a	n/a
33	CTCF	chr11:55675628-55675696	Gliobla	brain:	n/a	n/a
34	CTCF	chr11:55640717-55641129	K562	blood:	n/a	chr11:55640866-55640879 chr11:55640865-55640881 chr11:55640866-55640879 chr11:55640918-55640931 chr11:55640859-55640880 chr11:55640864-55640882
35	CTCF	chr11:55640892-55640918	Pancreas_OC	pancreas:	n/a	n/a
36	CTCF	chr11:55662840-55662990	HepG2	liver:	n/a	n/a
37	CTCF	chr11:55640921-55641002	MCF-7	breast:	n/a	n/a
38	CTCF	chr11:55662820-55662970	BE2_C	brain:	n/a	n/a
39	CTCF	chr11:55636762-55636797	Kidney_OC	kidney:	n/a	n/a
40	CTCF	chr11:55631536-55631570	GM10266	blood:	n/a	n/a
41	CTCF	chr11:55628423-55628455	Pancreas_OC	pancreas:	n/a	n/a
42	CTCF	chr11:55662800-55662950	GM12873	blood:	n/a	n/a
43	CTCF	chr11:55662800-55662950	NB4	blood:	n/a	n/a
44	CTCF	chr11:55640953-55640992	MCF-7	breast:	n/a	n/a
45	CTCF	chr11:55628810-55628818	Pancreas_OC	pancreas:	n/a	n/a
46	CTCF	chr11:55640290-55640343	LNCaP	prostate:	n/a	chr11:55640325-55640338
47	CTCF	chr11:55637282-55637326	GM13976	blood:	n/a	n/a
48	CTCF	chr11:55675628-55675753	K562	blood:	n/a	n/a
49	CTCF	chr11:55662816-55663062	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chr11:55662860-55663010	GM12872	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:55653268-55653318	AoSMC	blood vessel:	n/a
2	chr11:55653268-55653318	AoSMC	blood vessel:	n/a
3	chr11:55594854-55594904	LNCaP	prostate:	n/a
4	chr11:55640721-55640771	SKMC	muscle:	n/a
5	chr11:55593465-55593515	SAEC	small airway:	n/a
6	chr11:55649706-55649756	GM12878	blood:	n/a
7	chr11:55586293-55586343	HCPEpiC	choroid plexus:	n/a
8	chr11:55640291-55640341	ovcar-3	ovarian:	n/a
9	chr11:55644825-55644875	HEEpiC	esophagus:	n/a
10	chr11:55606710-55606760	HCF	heart:	n/a
11	chr11:55605161-55605211	K562	blood:	n/a
12	chr11:55641084-55641134	HIPEpiC	eye:	n/a
13	chr11:55649706-55649756	Caco-2	colon:	n/a
14	chr11:55606216-55606266	HIPEpiC	eye:	n/a
15	chr11:55653080-55653130	SK-N-MC	brain:	n/a
16	chr11:55682099-55682149	HUVEC	blood vessel:	n/a
17	chr11:55586293-55586343	AG09309	skin:	n/a
18	chr11:55640721-55640771	Caco-2	colon:	n/a
19	chr11:55605161-55605211	NH-A	brain:	n/a
20	chr11:55653080-55653130	AG09319	gingival:	n/a
21	chr11:55586264-55586314	HIPEpiC	eye:	n/a
22	chr11:55638302-55638352	MCF-7	breast:	n/a
23	chr11:55594854-55594904	T-47D	breast:	n/a
24	chr11:55637839-55637889	PFSK-1	brain:	n/a
25	chr11:55682099-55682149	MCF10A-Er-Src	breast:	n/a
26	chr11:55593465-55593515	HMEC	breast:	n/a
27	chr11:55682457-55682507	Hela-S3	cervix:	n/a
28	chr11:55587104-55587154	RPTEC	kidney:	n/a
29	chr11:55561545-55561595	MCF10A-Er-Src	breast:	n/a
30	chr11:55586293-55586343	SKMC	muscle:	n/a
31	chr11:55563401-55563451	A549	lung:	n/a
32	chr11:55606710-55606760	ProgFib	skin:	n/a
33	chr11:55650046-55650096	NH-A	brain:	n/a
34	chr11:55561545-55561595	U87	brain:	n/a
35	chr11:55652114-55652164	SK-N-SH	brain:	n/a
36	chr11:55682099-55682149	HCF	heart:	n/a
37	chr11:55593465-55593515	MCF10A-Er-Src	breast:	n/a
38	chr11:55638302-55638352	AG09319	gingival:	n/a
39	chr11:55649706-55649756	CMK	blood:	n/a
40	chr11:55638302-55638352	HCT-116	colon:	n/a
41	chr11:55593465-55593515	HRCEpiC	kidney:	n/a
42	chr11:55638302-55638352	A549	lung:	n/a
43	chr11:55652114-55652164	LNCaP	prostate:	n/a
44	chr11:55587104-55587154	Jurkat	blood:	n/a
45	chr11:55642170-55642220	NHDF-neo	bronchial:	n/a
46	chr11:55681277-55681327	AG09309	skin:	n/a
47	chr11:55561545-55561595	HRCEpiC	kidney:	n/a
48	chr11:55593465-55593515	BE2_C	brain:	n/a
49	chr11:55650046-55650096	AG04449	skin:	fetal
50	chr11:55587104-55587154	HL-60	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:55698028..55700897-chr11:55714005..55716618,2	K562	blood:
2	chr11:55599784..55601500-chr11:55669222..55671222,2	K562	blood:
3	chr11:55569608..55571383-chr11:55587513..55589076,2	K562	blood:
4	chr11:55599784..55601500-chr11:55669222..55671222,2	K562	blood:
5	chr11:55575230..55577016-chr11:55600877..55602678,2	K562	blood:
6	chr11:55575230..55577016-chr11:55600877..55602678,2	K562	blood:
7	chr11:55569608..55571383-chr11:55587513..55589076,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPRYD5-1	chr11:55631408-55631812	NONHSAT021372
2	lnc-SPRYD5-1	chr11:55648224-55648719	NONHSAT021372

Variant related genes	Relation type
OR5D15P	TF binding region
ENSG00000255204	TF binding region
OR9M1P	TF binding region
ENSG00000255499	TF binding region
OR5D14	TF binding region
OR5W1P	TF binding region
OR5L1	TF binding region
OR5L2	TF binding region
OR5D18	TF binding region
ENSG00000254547	TF binding region
TRIM51	TF binding region
OR5D16	TF binding region
OR5W2	TF binding region
OR5D15P	CpG island
ENSG00000255204	CpG island
OR9M1P	CpG island
ENSG00000255499	CpG island
OR5D14	CpG island
OR5W1P	CpG island
OR5L1	CpG island
OR5L2	CpG island
OR5D18	CpG island
ENSG00000254547	CpG island
TRIM51	CpG island
OR5D16	CpG island
OR5W2	CpG island
ENSG00000255416	chromatin interactions

Extended variants
information (count: 665 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:665 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56272842	chr11:55551454-55551455	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs78912084	chr11:55551460-55551461	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs555783061	chr11:55551476-55551477	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs11820507	chr11:55551527-55551528	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs538316256	chr11:55551537-55551538	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs553845519	chr11:55551543-55551544	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs56390555	chr11:55551604-55551605	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs536876504	chr11:55551608-55551609	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs79048913	chr11:55551638-55551639	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs576713373	chr11:55551642-55551643	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs544137180	chr11:55551657-55551658	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs553438850	chr11:55551664-55551665	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs565231543	chr11:55551666-55551667	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs559273930	chr11:55553310-55553311	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs370261207	chr11:55553342-55553343	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs371251493	chr11:55559156-55559157	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs377010002	chr11:55559160-55559161	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs190835451	chr11:55559281-55559282	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs183390128	chr11:55559282-55559283	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs187361863	chr11:55559284-55559285	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs532201788	chr11:55559393-55559394	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs147740485	chr11:55559965-55559966	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs297114	chr11:55559978-55559979	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs576736456	chr11:55560031-55560032	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs543331770	chr11:55560070-55560071	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs142663002	chr11:55560081-55560082	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs184298175	chr11:55560094-55560095	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs528737243	chr11:55561560-55561561	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
29	rs558422770	chr11:55561568-55561569	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
30	rs568093954	chr11:55561591-55561592	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
31	rs371995108	chr11:55561595-55561596	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
32	rs55638992	chr11:55562165-55562166	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs542559439	chr11:55562172-55562173	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs529198072	chr11:55574358-55574359	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs149681105	chr11:55574365-55574366	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs562168233	chr11:55574380-55574381	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs530244683	chr11:55574387-55574388	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs371740732	chr11:55574399-55574400	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs536997456	chr11:55577775-55577776	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
40	rs192559606	chr11:55577793-55577794	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
41	rs570491128	chr11:55577812-55577813	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
42	rs182767654	chr11:55583844-55583845	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs565941472	chr11:55583853-55583854	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs186792691	chr11:55583889-55583890	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs548185402	chr11:55583904-55583905	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs73481815	chr11:55583950-55583951	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs563181737	chr11:55583970-55583971	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs537140099	chr11:55583983-55583984	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs369052636	chr11:55584002-55584003	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs147842322	chr11:55584032-55584033	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
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
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21990379	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	17142309	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Multiple myeloma	16616336	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20967226	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:55589400-55590400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chr11:55633200-55633600	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr11:55638000-55640200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr11:55639800-55640000	Enhancers	Pancreas	Pancrea
5	chr11:55640000-55640400	Flanking Active TSS	Pancreas	Pancrea
6	chr11:55640000-55640800	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr11:55640000-55641000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr11:55640000-55641000	ZNF genes & repeats	Fetal Brain Female	brain
9	chr11:55640200-55640800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr11:55640200-55640800	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr11:55640200-55640800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr11:55640200-55641200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
13	chr11:55640400-55640800	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
14	chr11:55640400-55640800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr11:55640400-55640800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:55640400-55641000	Active TSS	Pancreas	Pancrea
17	chr11:55640600-55641200	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr11:55641000-55641400	Weak transcription	Pancreas	Pancrea
19	chr11:55641400-55642000	ZNF genes & repeats	Pancreas	Pancrea
20	chr11:55663000-55663400	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr11:55698800-55699000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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