Variant report

Variant	nsv972028
Chromosome Location	chr11:55634700-55663452
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	chr11:55634940-55635308	GM12878	blood:	n/a	chr11:55635206-55635216
2	BATF	chr11:55634919-55635279	GM12878	blood:	n/a	chr11:55635206-55635216
3	BCL11A	chr11:55634987-55635226	GM12878	blood:	n/a	n/a
4	BHLHE40	chr11:55634894-55635260	GM12878	blood:	n/a	chr11:55635049-55635062 chr11:55634927-55634943
5	CTCF	chr11:55662800-55662950	GM12873	blood:	n/a	n/a
6	CTCF	chr11:55640781-55640979	LNCaP	prostate:	n/a	chr11:55640866-55640879 chr11:55640865-55640881 chr11:55640866-55640879 chr11:55640918-55640931 chr11:55640859-55640880 chr11:55640864-55640882
7	CTCF	chr11:55662840-55662990	WERI-Rb-1	eye:	n/a	n/a
8	CTCF	chr11:55662750-55663026	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr11:55655615-55655655	LNCaP	prostate:	n/a	n/a
10	CTCF	chr11:55653673-55653698	GM10248	blood:	n/a	n/a
11	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
12	CTCF	chr11:55640734-55640997	LNCaP	prostate:	n/a	chr11:55640866-55640879 chr11:55640865-55640881 chr11:55640866-55640879 chr11:55640918-55640931 chr11:55640859-55640880 chr11:55640864-55640882
13	CTCF	chr11:55662840-55662990	GM12866	blood:	n/a	n/a
14	CTCF	chr11:55662845-55663047	GM12878	blood:	n/a	n/a
15	CTCF	chr11:55640192-55640224	GM13976	blood:	n/a	n/a
16	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
17	CTCF	chr11:55636762-55636797	Kidney_OC	kidney:	n/a	n/a
18	CTCF	chr11:55638325-55638365	Kidney_OC	kidney:	n/a	n/a
19	CTCF	chr11:55662860-55663010	HepG2	liver:	n/a	n/a
20	CTCF	chr11:55662780-55662930	HEK293	kidney:	n/a	n/a
21	CTCF	chr11:55662800-55662950	NB4	blood:	n/a	n/a
22	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
23	CTCF	chr11:55662816-55663062	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr11:55662860-55663010	GM12874	blood:	n/a	n/a
25	CTCF	chr11:55640917-55640919	MCF-7	breast:	n/a	n/a
26	CTCF	chr11:55662760-55662910	GM06990	blood:	n/a	n/a
27	CTCF	chr11:55662860-55663010	GM12872	blood:	n/a	n/a
28	CTCF	chr11:55640892-55640918	Pancreas_OC	pancreas:	n/a	n/a
29	CTCF	chr11:55662787-55662980	SK-N-SH_RA	brain:	n/a	n/a
30	CTCF	chr11:55662740-55662890	GM06990	blood:	n/a	n/a
31	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
32	CTCF	chr11:55640921-55641002	MCF-7	breast:	n/a	n/a
33	CTCF	chr11:55662880-55663030	GM12872	blood:	n/a	n/a
34	CTCF	chr11:55640953-55640992	MCF-7	breast:	n/a	n/a
35	CTCF	chr11:55662740-55662890	A549	lung:	n/a	n/a
36	CTCF	chr11:55662860-55663010	WERI-Rb-1	eye:	n/a	n/a
37	CTCF	chr11:55662840-55662990	HepG2	liver:	n/a	n/a
38	CTCF	chr11:55662820-55662970	Hela-S3	cervix:	n/a	n/a
39	CTCF	chr11:55662760-55662910	GM12865	blood:	n/a	n/a
40	CTCF	chr11:55662762-55662979	SK-N-SH_RA	brain:	n/a	n/a
41	CTCF	chr11:55662860-55663010	GM12875	blood:	n/a	n/a
42	CTCF	chr11:55662859-55662963	HepG2	liver:	n/a	n/a
43	CTCF	chr11:55640788-55641058	K562	blood:	n/a	chr11:55640866-55640879 chr11:55640865-55640881 chr11:55640866-55640879 chr11:55640918-55640931 chr11:55640859-55640880 chr11:55640864-55640882
44	CTCF	chr11:55662820-55662970	BE2_C	brain:	n/a	n/a
45	CTCF	chr11:55658475-55658514	Kidney_OC	kidney:	n/a	n/a
46	CTCF	chr11:55640720-55640870	SK-N-SH_RA	brain:	n/a	n/a
47	CTCF	chr11:55640290-55640343	LNCaP	prostate:	n/a	chr11:55640325-55640338
48	CTCF	chr11:55637282-55637326	GM13976	blood:	n/a	n/a
49	CTCF	chr11:55663080-55663230	GM06990	blood:	n/a	n/a
50	CTCF	chr11:55640900-55640985	GM19238	blood:	n/a	chr11:55640918-55640931

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:55641711-55641761	HCPEpiC	choroid plexus:	n/a
2	chr11:55640721-55640771	BE2_C	brain:	n/a
3	chr11:55641711-55641761	NHBE	bronchial:	n/a
4	chr11:55653268-55653318	SK-N-SH_RA	brain:	n/a
5	chr11:55640721-55640771	HL-60	blood:	n/a
6	chr11:55653310-55653360	HCM	heart:	n/a
7	chr11:55642170-55642220	NHBE	bronchial:	n/a
8	chr11:55653080-55653130	HRCEpiC	kidney:	n/a
9	chr11:55640721-55640771	HRCEpiC	kidney:	n/a
10	chr11:55653268-55653318	HCM	heart:	n/a
11	chr11:55653080-55653130	NB4	blood:	n/a
12	chr11:55641711-55641761	MCF10A-Er-Src	breast:	n/a
13	chr11:55641084-55641134	AG04449	skin:	fetal
14	chr11:55640721-55640771	HMEC	breast:	n/a
15	chr11:55637839-55637889	HEK293	kidney:	embryo
16	chr11:55659176-55659226	AG09319	gingival:	n/a
17	chr11:55659176-55659226	HCM	heart:	n/a
18	chr11:55653080-55653130	HMEC	breast:	n/a
19	chr11:55644825-55644875	Jurkat	blood:	n/a
20	chr11:55641711-55641761	ProgFib	skin:	n/a
21	chr11:55653268-55653318	PFSK-1	brain:	n/a
22	chr11:55652114-55652164	GM12891	blood:	n/a
23	chr11:55653268-55653318	HCT-116	colon:	n/a
24	chr11:55641711-55641761	NT2-D1	testis:	n/a
25	chr11:55659176-55659226	HNPCEpiC	eye:	n/a
26	chr11:55640291-55640341	HCM	heart:	n/a
27	chr11:55659176-55659226	AG04449	skin:	fetal
28	chr11:55649706-55649756	NH-A	brain:	n/a
29	chr11:55638302-55638352	SK-N-SH	brain:	n/a
30	chr11:55637839-55637889	HL-60	blood:	n/a
31	chr11:55653268-55653318	SK-N-MC	brain:	n/a
32	chr11:55650046-55650096	GM19239	blood:	n/a
33	chr11:55653268-55653318	LNCaP	prostate:	n/a
34	chr11:55644825-55644875	K562	blood:	n/a
35	chr11:55638302-55638352	NT2-D1	testis:	n/a
36	chr11:55641711-55641761	RPTEC	kidney:	n/a
37	chr11:55653080-55653130	HRE	kidney:	n/a
38	chr11:55653080-55653130	HCF	heart:	n/a
39	chr11:55652114-55652164	GM12892	blood:	n/a
40	chr11:55640721-55640771	SAEC	small airway:	n/a
41	chr11:55653310-55653360	LNCaP	prostate:	n/a
42	chr11:55641084-55641134	HCT-116	colon:	n/a
43	chr11:55642170-55642220	Jurkat	blood:	n/a
44	chr11:55653080-55653130	NH-A	brain:	n/a
45	chr11:55650046-55650096	SAEC	small airway:	n/a
46	chr11:55644825-55644875	HPAEpiC	pulmonary alveolar:	n/a
47	chr11:55640721-55640771	Caco-2	colon:	n/a
48	chr11:55653268-55653318	GM12878	blood:	n/a
49	chr11:55652114-55652164	HCF	heart:	n/a
50	chr11:55653080-55653130	Jurkat	blood:	n/a

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

Variant related genes	Relation type
ENSG00000254547	TF binding region
TRIM51	TF binding region
ENSG00000254547	CpG island
TRIM51	CpG island

Extended variants
information (count: 237 )
Associated
traits (count: 47 )

Variant overlapped rSNPs/rCNVs (count:237 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527454655	chr11:55638013-55638014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs7123941	chr11:55638017-55638018	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs560986587	chr11:55638041-55638042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145114291	chr11:55638042-55638043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7114268	chr11:55638062-55638063	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs193080147	chr11:55638081-55638082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185531402	chr11:55638082-55638083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547058694	chr11:55638104-55638105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10897379	chr11:55638112-55638113	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs58857012	chr11:55638209-55638210	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs555246368	chr11:55638273-55638274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111890451	chr11:55638303-55638304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537741606	chr11:55638325-55638326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4469905	chr11:55638352-55638353	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs12797117	chr11:55638399-55638400	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs112675846	chr11:55638407-55638408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369256145	chr11:55638409-55638410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541561080	chr11:55638413-55638414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143061256	chr11:55638445-55638446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111240915	chr11:55638498-55638499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572217362	chr11:55638511-55638512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542413242	chr11:55638517-55638518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113215095	chr11:55638540-55638541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561135667	chr11:55638593-55638594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372996360	chr11:55638596-55638597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531540193	chr11:55638624-55638625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376375843	chr11:55638633-55638634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189482603	chr11:55638634-55638635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370192540	chr11:55638636-55638637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564557586	chr11:55638651-55638652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531944659	chr11:55638653-55638654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373576619	chr11:55638665-55638666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs61897479	chr11:55638666-55638667	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs565388936	chr11:55638686-55638687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529792431	chr11:55638688-55638689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549837693	chr11:55638701-55638702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548539340	chr11:55638702-55638703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10400385	chr11:55638716-55638717	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs149455779	chr11:55638725-55638726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373385145	chr11:55638732-55638733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559266121	chr11:55638807-55638808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570875181	chr11:55638850-55638851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534978998	chr11:55638917-55638918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181514185	chr11:55638935-55638936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574884320	chr11:55638955-55638956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377547408	chr11:55638974-55638975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370127094	chr11:55638976-55638977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs145952498	chr11:55639100-55639101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576155599	chr11:55639110-55639111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543325701	chr11:55639139-55639140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:47)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:18 , 50 per page) page: 1

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

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