Variant report

Variant	nsv972038
Chromosome Location	chr11:64911552-64913423
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:64913265-64913465	K562	blood:	n/a	n/a
2	CTCF	chr11:64913316-64913394	K562	blood:	n/a	n/a
3	RAD21	chr11:64913244-64913549	HepG2	liver:	n/a	n/a
4	STAT3	chr11:64912605-64912805	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64912189..64921319-chr11:64935429..64940801,16	K562	blood:
2	chr11:64901191..64904408-chr11:64910543..64914377,7	MCF-7	breast:
3	chr11:64902231..64906341-chr11:64907764..64913217,6	K562	blood:
4	chr11:64912371..64919818-chr11:64945990..64951836,8	MCF-7	breast:
5	chr11:64912434..64914841-chr11:64936262..64938354,2	K562	blood:
6	chr11:64892136..64894424-chr11:64912450..64914597,2	MCF-7	breast:
7	chr11:64899081..64900910-chr11:64909477..64911964,2	K562	blood:
8	chr11:64889640..64891142-chr11:64910547..64912692,2	K562	blood:
9	chr11:64901686..64904380-chr11:64908615..64913217,6	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SYVN1-2	chr11:64913162-64913443	NONHSAT022092

No data

Variant related genes	Relation type
RNU2-23P	TF binding region
ENSG00000204710	chromatin interactions
ENSG00000014216	chromatin interactions
ENSG00000162298	chromatin interactions
ENSG00000149806	chromatin interactions
ENSG00000149792	chromatin interactions
ENSG00000254614	chromatin interactions

Extended variants
information (count: 56 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531991812	chr11:64911554-64911555	Weak transcription Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs551662436	chr11:64911602-64911603	Weak transcription Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs72932859	chr11:64911621-64911622	Weak transcription Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs533669313	chr11:64911631-64911632	Weak transcription Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs183897402	chr11:64911731-64911732	Weak transcription Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs543258077	chr11:64911740-64911741	Weak transcription Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs566929579	chr11:64911746-64911747	Weak transcription Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs535833052	chr11:64911820-64911821	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs376030728	chr11:64911834-64911835	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs369166156	chr11:64911860-64911861	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs575908606	chr11:64911861-64911862	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs397962067	chr11:64911878-64911879	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs75813020	chr11:64911879-64911880	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs145146457	chr11:64911908-64911909	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs115162511	chr11:64911990-64911991	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs558487753	chr11:64912068-64912069	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs1196049	chr11:64912123-64912124	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs538724891	chr11:64912149-64912150	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs535838580	chr11:64912152-64912153	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs139504620	chr11:64912153-64912154	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs573558533	chr11:64912159-64912160	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs114320546	chr11:64912194-64912195	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs560594059	chr11:64912197-64912198	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs529348397	chr11:64912247-64912248	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs543041877	chr11:64912249-64912250	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs187833896	chr11:64912289-64912290	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs532029714	chr11:64912334-64912335	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs552020340	chr11:64912382-64912383	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs565337373	chr11:64912392-64912393	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs192661537	chr11:64912400-64912401	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs542925009	chr11:64912401-64912402	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs149705304	chr11:64912406-64912407	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs117186055	chr11:64912449-64912450	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs56166241	chr11:64912476-64912477	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs115382721	chr11:64912610-64912611	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs55953837	chr11:64912806-64912807	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs77779771	chr11:64912880-64912881	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs569274511	chr11:64912986-64912987	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs530635102	chr11:64912989-64912990	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs538579006	chr11:64913016-64913017	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs372176848	chr11:64913050-64913051	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs558769816	chr11:64913074-64913075	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs572156574	chr11:64913129-64913130	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs1149569	chr11:64913165-64913166	Weak transcription Enhancers	Chromatin interactive region lncRNA	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs554021607	chr11:64913180-64913181	Weak transcription Enhancers	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
46	rs574162410	chr11:64913215-64913216	Enhancers Weak transcription	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
47	rs55879350	chr11:64913216-64913217	Enhancers Weak transcription	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
48	rs543080554	chr11:64913253-64913254	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
49	rs562888495	chr11:64913254-64913255	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
50	rs564834221	chr11:64913262-64913263	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	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
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	16417655	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	17217626	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	21045282	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Prostate cancer	18779856	CNVD
Cancer	17160897	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64903600-64911800	Weak transcription	Spleen	Spleen
2	chr11:64903600-64917400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr11:64904200-64913400	Weak transcription	Primary B cells from cord blood	blood
4	chr11:64910200-64912200	Weak transcription	Liver	Liver
5	chr11:64910200-64913000	Weak transcription	Primary B cells from peripheral blood	blood
6	chr11:64910200-64913800	Weak transcription	HepG2	liver
7	chr11:64911200-64911800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr11:64912200-64915000	Enhancers	Liver	Liver
9	chr11:64913000-64914600	Enhancers	Primary B cells from peripheral blood	blood
10	chr11:64913200-64914600	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr11:64913200-64914600	Enhancers	Pancreas	Pancrea
12	chr11:64913400-64914400	Enhancers	Primary B cells from cord blood	blood

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