Variant report

Variant	esv2829943
Chromosome Location	chr11:4246620-4335548
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:79)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:79 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:4257958-4258231	HepG2	liver:	n/a	chr11:4258101-4258112 chr11:4258101-4258110 chr11:4258099-4258110
2	CEBPB	chr11:4257961-4258189	K562	blood:	n/a	chr11:4258101-4258112 chr11:4258101-4258110 chr11:4258099-4258110
3	CEBPB	chr11:4257965-4258134	K562	blood:	n/a	chr11:4258101-4258112 chr11:4258101-4258110 chr11:4258099-4258110
4	CTCF	chr11:4291803-4291916	GM10248	blood:	n/a	n/a
5	CTCF	chr11:4309598-4309655	GM13977	blood:	n/a	n/a
6	CTCF	chr11:4293578-4293634	GM13976	blood:	n/a	n/a
7	CTCF	chr11:4332714-4332777	Lung_OC	lung:	n/a	n/a
8	CTCF	chr11:4335182-4335271	Lung_OC	lung:	n/a	n/a
9	CTCF	chr11:4332694-4332709	Lung_OC	lung:	n/a	n/a
10	CTCF	chr11:4261692-4261754	GM13976	blood:	n/a	n/a
11	CTCF	chr11:4311719-4311737	GM10248	blood:	n/a	n/a
12	CTCF	chr11:4272587-4272637	GM13976	blood:	n/a	n/a
13	CTCF	chr11:4276549-4276625	Lung_OC	lung:	n/a	n/a
14	CTCF	chr11:4292918-4293065	Spleen_OC	spleen:	n/a	n/a
15	CTCF	chr11:4329960-4330057	Kidney_OC	kidney:	n/a	n/a
16	CTCF	chr11:4302920-4302937	Spleen_OC	spleen:	n/a	n/a
17	CTCF	chr11:4269487-4269513	GM20000	blood:	n/a	n/a
18	CTCF	chr11:4295579-4295659	Lung_OC	lung:	n/a	n/a
19	CTCF	chr11:4332638-4332835	Spleen_OC	spleen:	n/a	n/a
20	CTCF	chr11:4293510-4293575	Lung_OC	lung:	n/a	n/a
21	CTCF	chr11:4291768-4291808	Lung_OC	lung:	n/a	n/a
22	CTCF	chr11:4328336-4328423	GM10266	blood:	n/a	n/a
23	CTCF	chr11:4302910-4302919	Spleen_OC	spleen:	n/a	n/a
24	CTCF	chr11:4268893-4268950	GM13976	blood:	n/a	n/a
25	CTCF	chr11:4330397-4330432	Kidney_OC	kidney:	n/a	n/a
26	CTCF	chr11:4295064-4295113	Lung_OC	lung:	n/a	n/a
27	CTCF	chr11:4330300-4330363	Medullo	brain:	n/a	n/a
28	CTCF	chr11:4291734-4291840	GM13976	blood:	n/a	n/a
29	CTCF	chr11:4306221-4306288	GM20000	blood:	n/a	n/a
30	CTCF	chr11:4298087-4298100	GM13976	blood:	n/a	n/a
31	CTCF	chr11:4275441-4275513	Lung_OC	lung:	n/a	n/a
32	CTCF	chr11:4267178-4267273	GM13976	blood:	n/a	n/a
33	CTCF	chr11:4301845-4301884	Lung_OC	lung:	n/a	n/a
34	CTCF	chr11:4313687-4313723	LNCaP	prostate:	n/a	n/a
35	CTCF	chr11:4273824-4273859	Lung_OC	lung:	n/a	n/a
36	CTCF	chr11:4270757-4270783	Spleen_OC	spleen:	n/a	n/a
37	FOSL2	chr11:4299802-4300072	HepG2	liver:	n/a	n/a
38	GABPA	chr11:4255030-4255184	Hela-S3	cervix:	n/a	n/a
39	GABPA	chr11:4254817-4254988	Hela-S3	cervix:	n/a	n/a
40	GABPA	chr11:4308725-4309037	Hela-S3	cervix:	n/a	n/a
41	GABPA	chr11:4254759-4255071	Hela-S3	cervix:	n/a	n/a
42	GABPA	chr11:4263346-4263541	Hela-S3	cervix:	n/a	n/a
43	GABPA	chr11:4309192-4309363	HepG2	liver:	n/a	n/a
44	GABPA	chr11:4308612-4308779	Hela-S3	cervix:	n/a	n/a
45	GABPA	chr11:4263282-4263594	Hela-S3	cervix:	n/a	n/a
46	GABPA	chr11:4300217-4300379	Hela-S3	cervix:	n/a	n/a
47	GABPA	chr11:4300178-4300491	Hela-S3	cervix:	n/a	n/a
48	GABPA	chr11:4308808-4308998	Hela-S3	cervix:	n/a	n/a
49	GABPA	chr11:4300437-4300604	Hela-S3	cervix:	n/a	n/a
50	GABPA	chr11:4299852-4300023	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:4259129-4259179	PFSK-1	brain:	n/a
2	chr11:4258933-4258983	H1-hESC	embryonic stem cell:	embryo
3	chr11:4259129-4259179	SKMC	muscle:	n/a
4	chr11:4259129-4259179	BJ	skin:	n/a
5	chr11:4258933-4258983	HCF	heart:	n/a
6	chr11:4258933-4258983	AG04450	lung:	fetal
7	chr11:4258933-4258983	A549	lung:	n/a
8	chr11:4259129-4259179	HCPEpiC	choroid plexus:	n/a
9	chr11:4259129-4259179	HPAEpiC	pulmonary alveolar:	n/a
10	chr11:4259129-4259179	SAEC	small airway:	n/a
11	chr11:4259129-4259179	Caco-2	colon:	n/a
12	chr11:4258933-4258983	ProgFib	skin:	n/a
13	chr11:4258933-4258983	MCF10A-Er-Src	breast:	n/a
14	chr11:4259129-4259179	T-47D	breast:	n/a
15	chr11:4258933-4258983	GM19239	blood:	n/a
16	chr11:4259129-4259179	Hepatocyte	liver:	n/a
17	chr11:4259129-4259179	HL-60	blood:	n/a
18	chr11:4259129-4259179	ovcar-3	ovarian:	n/a
19	chr11:4259129-4259179	HMEC	breast:	n/a
20	chr11:4258933-4258983	SK-N-MC	brain:	n/a
21	chr11:4259129-4259179	NT2-D1	testis:	n/a
22	chr11:4258933-4258983	HNPCEpiC	eye:	n/a
23	chr11:4258933-4258983	HMEC	breast:	n/a
24	chr11:4258933-4258983	U87	brain:	n/a
25	chr11:4259129-4259179	U87	brain:	n/a
26	chr11:4259129-4259179	GM12891	blood:	n/a
27	chr11:4259129-4259179	Hela-S3	cervix:	n/a
28	chr11:4259129-4259179	GM06990	blood:	n/a
29	chr11:4258933-4258983	PANC-1	pancreas:	n/a
30	chr11:4258933-4258983	HCT-116	colon:	n/a
31	chr11:4259129-4259179	AG09309	skin:	n/a
32	chr11:4259129-4259179	ECC-1	luminal epithelium:	n/a
33	chr11:4259129-4259179	HCT-116	colon:	n/a
34	chr11:4258933-4258983	IMR90	lung:	fetal
35	chr11:4259129-4259179	MCF-7	breast:	n/a
36	chr11:4259129-4259179	ProgFib	skin:	n/a
37	chr11:4259129-4259179	AG04450	lung:	fetal
38	chr11:4258933-4258983	NHBE	bronchial:	n/a
39	chr11:4259129-4259179	HRCEpiC	kidney:	n/a
40	chr11:4259129-4259179	AoSMC	blood vessel:	n/a
41	chr11:4258933-4258983	PrEC	prostate:	n/a
42	chr11:4259129-4259179	NH-A	brain:	n/a
43	chr11:4259129-4259179	SK-N-SH	brain:	n/a
44	chr11:4259129-4259179	AG10803	skin:	n/a
45	chr11:4259129-4259179	Jurkat	blood:	n/a
46	chr11:4259129-4259179	RPTEC	kidney:	n/a
47	chr11:4258933-4258983	AG04449	skin:	fetal
48	chr11:4259129-4259179	K562	blood:	n/a
49	chr11:4258933-4258983	SAEC	small airway:	n/a
50	chr11:4258933-4258983	HCPEpiC	choroid plexus:	n/a

No data

Variant related genes	Relation type
SSU72P5	TF binding region
SSU72P4	TF binding region
SSU72P2	TF binding region
SSU72P6	TF binding region
SSU72P5	CpG island
SSU72P4	CpG island
SSU72P2	CpG island
SSU72P6	CpG island

Extended variants
information (count: 301 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:301 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550678214	chr11:4267187-4267188	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs2034120	chr11:4269009-4269010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536856933	chr11:4269014-4269015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558676397	chr11:4269016-4269017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs139818719	chr11:4269020-4269021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs71478750	chr11:4269030-4269031	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs190547193	chr11:4269036-4269037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559672042	chr11:4269049-4269050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs572514394	chr11:4269057-4269058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs11600711	chr11:4269058-4269059	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs561230962	chr11:4269063-4269064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs117714087	chr11:4269068-4269069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs439144	chr11:4269070-4269071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs137983176	chr11:4269083-4269084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs565111666	chr11:4269085-4269086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs372501835	chr11:4269089-4269090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532543449	chr11:4269095-4269096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs112819762	chr11:4269103-4269104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs11031408	chr11:4269105-4269106	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs394405	chr11:4269119-4269120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs548121390	chr11:4269125-4269126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs567542572	chr11:4269132-4269133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs536116705	chr11:4269133-4269134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs569659141	chr11:4269146-4269147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12293144	chr11:4269152-4269153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs199872864	chr11:4269155-4269156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs11031409	chr11:4269156-4269157	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs193133772	chr11:4269158-4269159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs1960100	chr11:4269170-4269171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185140163	chr11:4269201-4269202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534803187	chr11:4269206-4269207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553351309	chr11:4269213-4269214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574740256	chr11:4269225-4269226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs199914672	chr11:4269231-4269232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542667131	chr11:4269238-4269239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538363613	chr11:4269249-4269250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558217657	chr11:4269251-4269252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113377201	chr11:4269256-4269257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571739503	chr11:4269261-4269262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532606300	chr11:4269262-4269263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547579851	chr11:4269263-4269264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189087183	chr11:4269266-4269267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181122359	chr11:4269293-4269294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541009029	chr11:4269294-4269295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371388578	chr11:4269304-4269305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138728292	chr11:4269318-4269319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114200102	chr11:4269321-4269322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs116421757	chr11:4269326-4269327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544705	chr11:4269336-4269337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544681	chr11:4269345-4269346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Autism	22495311	CNVD
Lung cancer	18438408	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	20967226	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4269000-4269200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:4269200-4272000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:4271800-4272400	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr11:4272000-4272400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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