Variant report

Variant	esv1798076
Chromosome Location	chr11:4960949-4977065
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:122)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CCNT2	chr11:4964325-4964404	K562	blood:	n/a	n/a
2	CTCF	chr11:4968105-4968165	GM13977	blood:	n/a	n/a
3	CTCF	chr11:4968209-4968232	GM13976	blood:	n/a	n/a
4	E2F4	chr11:4968807-4969062	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr11:4972687-4972856	HUVEC	blood vessel:	n/a	n/a
6	MAFK	chr11:4963732-4964011	HepG2	liver:	n/a	n/a
7	MXI1	chr11:4966553-4966586	GM12878	blood:	n/a	n/a
8	POLR2A	chr11:4972318-4972755	H1-neurons	neurons:	n/a	n/a
9	POLR2A	chr11:4963376-4963576	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr11:4971691-4971713	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr11:4970236-4970356	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr11:4976117-4976238	Gliobla	brain:	n/a	n/a
13	POLR2A	chr11:4961274-4961285	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr11:4968696-4968712	MCF10A-Er-Src	breast:	n/a	n/a
15	RFX5	chr11:4972790-4972792	K562	blood:	n/a	n/a
16	RFX5	chr11:4973587-4973657	K562	blood:	n/a	n/a
17	STAT3	chr11:4971311-4971511	MCF10A-Er-Src	breast:	n/a	n/a
18	ZNF384	chr11:4963238-4963526	K562	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:4976263-4976313	NHBE	bronchial:	n/a
2	chr11:4976263-4976313	HMEC	breast:	n/a
3	chr11:4976263-4976313	SK-N-SH_RA	brain:	n/a
4	chr11:4977001-4977051	SKMC	muscle:	n/a
5	chr11:4976263-4976313	Hela-S3	cervix:	n/a
6	chr11:4977001-4977051	ovcar-3	ovarian:	n/a
7	chr11:4977001-4977051	HCPEpiC	choroid plexus:	n/a
8	chr11:4977001-4977051	Jurkat	blood:	n/a
9	chr11:4976263-4976313	HCF	heart:	n/a
10	chr11:4977001-4977051	HNPCEpiC	eye:	n/a
11	chr11:4976263-4976313	AG04450	lung:	fetal
12	chr11:4976263-4976313	AG09309	skin:	n/a
13	chr11:4977001-4977051	LNCaP	prostate:	n/a
14	chr11:4976263-4976313	HepG2	liver:	n/a
15	chr11:4976263-4976313	H1-hESC	embryonic stem cell:	embryo
16	chr11:4977001-4977051	AG04449	skin:	fetal
17	chr11:4976263-4976313	ovcar-3	ovarian:	n/a
18	chr11:4977001-4977051	AG10803	skin:	n/a
19	chr11:4977001-4977051	HAEpiC	amniotic membrane:	n/a
20	chr11:4976263-4976313	SAEC	small airway:	n/a
21	chr11:4977001-4977051	T-47D	breast:	n/a
22	chr11:4976263-4976313	NT2-D1	testis:	n/a
23	chr11:4977001-4977051	HL-60	blood:	n/a
24	chr11:4976263-4976313	SKMC	muscle:	n/a
25	chr11:4977001-4977051	U87	brain:	n/a
26	chr11:4976263-4976313	RPTEC	kidney:	n/a
27	chr11:4976263-4976313	NB4	blood:	n/a
28	chr11:4977001-4977051	RPTEC	kidney:	n/a
29	chr11:4977001-4977051	A549	lung:	n/a
30	chr11:4977001-4977051	MCF-7	breast:	n/a
31	chr11:4977001-4977051	NHBE	bronchial:	n/a
32	chr11:4977001-4977051	Hepatocyte	liver:	n/a
33	chr11:4976263-4976313	HEK293	kidney:	embryo
34	chr11:4976263-4976313	HCT-116	colon:	n/a
35	chr11:4977001-4977051	NT2-D1	testis:	n/a
36	chr11:4976263-4976313	PrEC	prostate:	n/a
37	chr11:4976263-4976313	GM19239	blood:	n/a
38	chr11:4976263-4976313	SK-N-MC	brain:	n/a
39	chr11:4977001-4977051	HEEpiC	esophagus:	n/a
40	chr11:4977001-4977051	BE2_C	brain:	n/a
41	chr11:4976263-4976313	HIPEpiC	eye:	n/a
42	chr11:4976263-4976313	BE2_C	brain:	n/a
43	chr11:4976263-4976313	T-47D	breast:	n/a
44	chr11:4977001-4977051	K562	blood:	n/a
45	chr11:4977001-4977051	Hela-S3	cervix:	n/a
46	chr11:4976263-4976313	Hepatocyte	liver:	n/a
47	chr11:4977001-4977051	MCF10A-Er-Src	breast:	n/a
48	chr11:4976263-4976313	A549	lung:	n/a
49	chr11:4976263-4976313	GM06990	blood:	n/a
50	chr11:4977001-4977051	AG04450	lung:	fetal

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	11:4957178-4961904..11:5721056-5732713	H1-hESC	embryonic stem cell:	embryo

No data

Variant related genes	Relation type
OR51A4	TF binding region
OR51A2	TF binding region
OR51A3P	TF binding region
OR51A4	CpG island
OR51A2	CpG island
OR51A3P	CpG island
ENSG00000132274	chromatin interactions

Extended variants
information (count: 124 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528425111	chr11:4960953-4960954	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs367713848	chr11:4960968-4960969	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs561581021	chr11:4960974-4960975	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs180941440	chr11:4960989-4960990	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs36013257	chr11:4961003-4961004	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs77791950	chr11:4961020-4961021	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs557180226	chr11:4961052-4961053	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs143627952	chr11:4961057-4961058	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs113484530	chr11:4961065-4961066	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs570815846	chr11:4961083-4961084	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs535041117	chr11:4961090-4961091	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs183692563	chr11:4961119-4961120	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs76745386	chr11:4961126-4961127	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs568739786	chr11:4961133-4961134	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs111953961	chr11:4961162-4961163	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs557546673	chr11:4961192-4961193	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs575250435	chr11:4961205-4961206	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs79239189	chr11:4961261-4961262	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs553519102	chr11:4961300-4961301	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs536759245	chr11:4961357-4961358	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs144607180	chr11:4961363-4961364	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs540164404	chr11:4961396-4961397	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs116757953	chr11:4961408-4961409	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs573565350	chr11:4961428-4961429	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs527462547	chr11:4961452-4961453	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs189189853	chr11:4961454-4961455	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs138515033	chr11:4961488-4961489	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs141657567	chr11:4961521-4961522	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs17339295	chr11:4961547-4961548	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs564351432	chr11:4961556-4961557	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs146205551	chr11:4961581-4961582	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs182420952	chr11:4961589-4961590	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs568776859	chr11:4961609-4961610	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs536107026	chr11:4961625-4961626	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs550942534	chr11:4961635-4961636	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs569426806	chr11:4961636-4961637	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs561158198	chr11:4961646-4961647	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs2596003	chr11:4961692-4961693	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs139928298	chr11:4961736-4961737	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs572823415	chr11:4961756-4961757	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs186537467	chr11:4961757-4961758	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs554903153	chr11:4961802-4961803	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs573644769	chr11:4961819-4961820	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs192066351	chr11:4961845-4961846	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs368117532	chr11:4961867-4961868	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs562575645	chr11:4961877-4961878	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs112326220	chr11:4961887-4961888	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs2595997	chr11:4963240-4963241	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs554052499	chr11:4963270-4963271	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs111566078	chr11:4963314-4963315	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Esophageal adenocarcinoma	18519675	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
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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