Variant report

Variant	nsv553366
Chromosome Location	chr11:6116776-6125660
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:33)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:33 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:6120920-6121070	GM12872	blood:	n/a	n/a
2	CTCF	chr11:6120940-6121090	HepG2	liver:	n/a	n/a
3	CTCF	chr11:6117420-6117570	GM12874	blood:	n/a	n/a
4	CTCF	chr11:6117640-6117790	HPAF	blood vessel:	n/a	n/a
5	CTCF	chr11:6120960-6121110	Hela-S3	cervix:	n/a	n/a
6	CTCF	chr11:6120865-6121144	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr11:6120980-6121130	GM12864	blood:	n/a	n/a
8	CTCF	chr11:6120940-6121090	HCT-116	colon:	n/a	n/a
9	CTCF	chr11:6120958-6121093	K562	blood:	n/a	n/a
10	CTCF	chr11:6124809-6124848	Fibrobl	skin:	n/a	n/a
11	CTCF	chr11:6121000-6121150	HCT-116	colon:	n/a	n/a
12	CTCF	chr11:6121000-6121150	HEK293	kidney:	n/a	n/a
13	CTCF	chr11:6120940-6121090	GM06990	blood:	n/a	n/a
14	CTCF	chr11:6117620-6117770	GM12872	blood:	n/a	n/a
15	CTCF	chr11:6121001-6121083	HepG2	liver:	n/a	n/a
16	CTCF	chr11:6120980-6121114	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr11:6120920-6121070	A549	lung:	n/a	n/a
18	CTCF	chr11:6120862-6121158	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr11:6117732-6117813	Gliobla	brain:	n/a	n/a
20	CTCF	chr11:6120969-6121065	K562	blood:	n/a	n/a
21	JUN	chr11:6120953-6121098	H1-hESC	embryonic stem cell:	n/a	n/a
22	JUND	chr11:6120975-6121175	H1-hESC	embryonic stem cell:	n/a	n/a
23	MAFK	chr11:6125159-6125305	IMR90	lung:	n/a	n/a
24	MAFK	chr11:6125141-6125305	HepG2	liver:	n/a	n/a
25	POLR2A	chr11:6124793-6124822	A549	lung:	n/a	n/a
26	POLR2A	chr11:6124828-6124857	A549	lung:	n/a	n/a
27	RAD21	chr11:6120819-6121302	H1-hESC	embryonic stem cell:	n/a	n/a
28	RAD21	chr11:6120886-6121198	H1-hESC	embryonic stem cell:	n/a	n/a
29	RAD21	chr11:6120878-6121206	H1-hESC	embryonic stem cell:	n/a	n/a
30	RAD21	chr11:6120959-6121153	HepG2	liver:	n/a	n/a
31	SIN3A	chr11:6120860-6121136	H1-hESC	embryonic stem cell:	n/a	n/a
32	SMC3	chr11:6118812-6118972	HepG2	liver:	n/a	n/a
33	ZNF143	chr11:6120902-6121128	H1-hESC	embryonic stem cell:	n/a	n/a

No data

Variant related genes	Relation type
OR56B4	TF binding region

Extended variants
information (count: 294 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:294 , 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	rs7952121	chr11:6116776-6116777	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs142497920	chr11:6116792-6116793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs7952132	chr11:6116804-6116805	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs74055120	chr11:6116829-6116830	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs11040713	chr11:6116843-6116844	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs116566280	chr11:6116844-6116845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185451686	chr11:6116847-6116848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs115981964	chr11:6116859-6116860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs11040714	chr11:6116898-6116899	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs11040715	chr11:6116920-6116921	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs544835074	chr11:6116938-6116939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs553437911	chr11:6116957-6116958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs11040717	chr11:6116974-6116975	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs533385326	chr11:6116989-6116990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs542316039	chr11:6117018-6117019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189012638	chr11:6117024-6117025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531220394	chr11:6117056-6117057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs181371166	chr11:6117064-6117065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563066903	chr11:6117077-6117078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs549987027	chr11:6117078-6117079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs374015240	chr11:6117080-6117081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs185601291	chr11:6117095-6117096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs150507969	chr11:6117119-6117120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs552043829	chr11:6117128-6117129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs35020990	chr11:6117132-6117133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs371334736	chr11:6117136-6117137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs397848102	chr11:6117137-6117138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs202082554	chr11:6117138-6117139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs11606174	chr11:6117174-6117175	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs549220471	chr11:6117273-6117274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs569046663	chr11:6117294-6117295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs11040718	chr11:6117325-6117326	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs7123409	chr11:6117380-6117381	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs371592280	chr11:6117383-6117384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs7104448	chr11:6117422-6117423	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs571487241	chr11:6117424-6117425	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs141169884	chr11:6117443-6117444	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs140578271	chr11:6117447-6117448	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs398115010	chr11:6117448-6117449	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs372683462	chr11:6117449-6117450	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs4758384	chr11:6117479-6117480	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs4758385	chr11:6117526-6117527	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs571916838	chr11:6117557-6117558	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs535907633	chr11:6117656-6117657	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs113764173	chr11:6117658-6117659	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs149632270	chr11:6117659-6117660	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs369731046	chr11:6117672-6117673	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs113836384	chr11:6117690-6117691	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs148805285	chr11:6117697-6117698	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs578261356	chr11:6117705-6117706	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
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
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:6112800-6117200	Weak transcription	Fetal Heart	heart
2	chr11:6115200-6116800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr11:6116600-6118800	Enhancers	Placenta	Placenta
4	chr11:6117200-6118400	Enhancers	Fetal Heart	heart
5	chr11:6117400-6117600	Enhancers	Fetal Muscle Leg	muscle
6	chr11:6117400-6117800	Bivalent Enhancer	HUVEC	blood vessel
7	chr11:6117400-6118800	Enhancers	Left Ventricle	heart
8	chr11:6117600-6117800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr11:6117600-6118000	Enhancers	Right Ventricle	heart
10	chr11:6117600-6118600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:6118000-6118600	Enhancers	Psoas Muscle	Psoas
12	chr11:6118200-6118400	Enhancers	Fetal Muscle Leg	muscle
13	chr11:6120400-6122000	Enhancers	Primary T cells from cord blood	blood
14	chr11:6121000-6122000	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr11:6121200-6122000	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr11:6122000-6122200	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr11:6123800-6129800	Weak transcription	Pancreas	Pancrea

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