Variant report

Variant	esv2757442
Chromosome Location	chr11:49281916-49398973
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:189)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:189 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:49332869-49333147	HepG2	liver:	n/a	n/a
2	CEBPB	chr11:49386995-49387243	A549	lung:	n/a	chr11:49387090-49387107
3	CEBPB	chr11:49332880-49333223	IMR90	lung:	n/a	n/a
4	CEBPB	chr11:49387001-49387231	IMR90	lung:	n/a	chr11:49387090-49387107
5	CEBPB	chr11:49386995-49387262	Hela-S3	cervix:	n/a	chr11:49387090-49387107
6	CEBPB	chr11:49377197-49377351	K562	blood:	n/a	chr11:49377237-49377248
7	CTCF	chr11:49393854-49393987	GM13977	blood:	n/a	n/a
8	CTCF	chr11:49340030-49340071	Pancreas_OC	pancreas:	n/a	n/a
9	CTCF	chr11:49393720-49393870	NHEK	skin:	n/a	n/a
10	CTCF	chr11:49294876-49294937	Fibrobl	skin:	n/a	n/a
11	CTCF	chr11:49393764-49393987	Kidney_OC	kidney:	n/a	n/a
12	CTCF	chr11:49324075-49324150	LNCaP	prostate:	n/a	n/a
13	CTCF	chr11:49393840-49393990	HUVEC	blood vessel:	n/a	n/a
14	CTCF	chr11:49393740-49393890	GM12872	blood:	n/a	n/a
15	CTCF	chr11:49393800-49393950	RPTEC	kidney:	n/a	n/a
16	CTCF	chr11:49393720-49393870	RPTEC	kidney:	n/a	n/a
17	CTCF	chr11:49324040-49324190	Caco-2	colon:	n/a	n/a
18	CTCF	chr11:49335020-49335089	ProgFib	skin:	n/a	n/a
19	CTCF	chr11:49393840-49393965	Pancreas_OC	pancreas:	n/a	n/a
20	CTCF	chr11:49393815-49393995	Spleen_OC	spleen:	n/a	n/a
21	CTCF	chr11:49283962-49283968	GM20000	blood:	n/a	n/a
22	CTCF	chr11:49294844-49294932	MCF-7	breast:	n/a	n/a
23	CTCF	chr11:49324010-49324181	HUVEC	blood vessel:	n/a	n/a
24	CTCF	chr11:49318017-49318064	Kidney_OC	kidney:	n/a	n/a
25	CTCF	chr11:49305012-49305129	MCF-7	breast:	n/a	chr11:49305064-49305085
26	CTCF	chr11:49393822-49393962	HepG2	liver:	n/a	n/a
27	CTCF	chr11:49283118-49283252	Medullo	brain:	n/a	n/a
28	CTCF	chr11:49393820-49393991	LNCaP	prostate:	n/a	n/a
29	CTCF	chr11:49366554-49366659	GM10248	blood:	n/a	n/a
30	CTCF	chr11:49393842-49393981	Medullo	brain:	n/a	n/a
31	CTCF	chr11:49393800-49393950	MCF-7	breast:	n/a	n/a
32	CTCF	chr11:49393804-49393971	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr11:49393882-49393921	GM10248	blood:	n/a	n/a
34	CTCF	chr11:49393580-49393870	MCF-7	breast:	n/a	n/a
35	CTCF	chr11:49393798-49393988	GM12878	blood:	n/a	n/a
36	CTCF	chr11:49393843-49393975	MCF-7	breast:	n/a	n/a
37	CTCF	chr11:49393799-49393995	LNCaP	prostate:	n/a	n/a
38	CTCF	chr11:49393780-49393930	Hela-S3	cervix:	n/a	n/a
39	CTCF	chr11:49393874-49393919	GM20000	blood:	n/a	n/a
40	CTCF	chr11:49294731-49294782	ProgFib	skin:	n/a	n/a
41	CTCF	chr11:49294871-49294920	MCF-7	breast:	n/a	n/a
42	CTCF	chr11:49393808-49393948	HepG2	liver:	n/a	n/a
43	CTCF	chr11:49393843-49393986	Lung_OC	lung:	n/a	n/a
44	CTCF	chr11:49393800-49393950	GM12872	blood:	n/a	n/a
45	CTCF	chr11:49396798-49396833	GM13977	blood:	n/a	n/a
46	CTCF	chr11:49393873-49393876	GM10248	blood:	n/a	n/a
47	CTCF	chr11:49397517-49397556	Fibrobl	skin:	n/a	n/a
48	CTCF	chr11:49396707-49396731	GM10248	blood:	n/a	n/a
49	CTCF	chr11:49393845-49393941	GM10266	blood:	n/a	n/a
50	CTCF	chr11:49294515-49294605	Lung_OC	lung:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000255532	TF binding region

Extended variants
information (count: 1957 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:1957 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3912503	chr11:49281916-49281917	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs528174762	chr11:49281962-49281963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112749628	chr11:49281989-49281990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545951053	chr11:49282003-49282004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2903253	chr11:49282051-49282052	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs189754099	chr11:49282063-49282064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371181726	chr11:49282122-49282123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs180991412	chr11:49282204-49282205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375162053	chr11:49282259-49282260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561670349	chr11:49282278-49282279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368489719	chr11:49282279-49282280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs527273758	chr11:49282300-49282301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7935256	chr11:49282301-49282302	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs4373925	chr11:49282345-49282346	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs2866328	chr11:49282421-49282422	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs549973738	chr11:49282483-49282484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185666160	chr11:49282500-49282501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374553996	chr11:49282518-49282519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190430882	chr11:49282537-49282538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550219984	chr11:49282569-49282570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555039408	chr11:49282617-49282618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568509781	chr11:49282621-49282622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557339454	chr11:49282692-49282693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs71454050	chr11:49282706-49282707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183277195	chr11:49282715-49282716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188202655	chr11:49282732-49282733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577091137	chr11:49282806-49282807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569141283	chr11:49282904-49282905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12801054	chr11:49282916-49282917	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs534782473	chr11:49282929-49282930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553010716	chr11:49283027-49283028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs139537742	chr11:49283117-49283118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372211329	chr11:49283131-49283132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375024417	chr11:49283161-49283162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576566888	chr11:49283211-49283212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146040061	chr11:49283234-49283235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548059810	chr11:49283241-49283242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568293134	chr11:49283326-49283327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7117394	chr11:49283352-49283353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs117405239	chr11:49283353-49283354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142189920	chr11:49283444-49283445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539021420	chr11:49283454-49283455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564092700	chr11:49283518-49283519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555772807	chr11:49283529-49283530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556990504	chr11:49283561-49283562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7120783	chr11:49283580-49283581	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs372767900	chr11:49283606-49283607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550083957	chr11:49283659-49283660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs140150117	chr11:49283687-49283688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529082858	chr11:49283696-49283697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22581003	CNVD
Breast cancer	21990379	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:49280400-49285800	Weak transcription	Fetal Intestine Large	intestine
2	chr11:49285800-49286000	Enhancers	Fetal Intestine Large	intestine
3	chr11:49295400-49295800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:49295800-49309000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:49302600-49302800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr11:49302800-49304800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr11:49304600-49305000	Enhancers	Fetal Kidney	kidney
8	chr11:49304800-49306200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr11:49305000-49305600	Enhancers	Adipose Nuclei	Adipose
10	chr11:49305800-49306200	Enhancers	Fetal Brain Male	brain
11	chr11:49306200-49314400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr11:49307600-49309400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr11:49307800-49309200	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr11:49307800-49309600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr11:49308000-49309200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr11:49308600-49309400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:49309000-49309600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr11:49309200-49313800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr11:49309600-49310000	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr11:49310000-49310200	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr11:49310200-49313800	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr11:49313800-49314200	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr11:49313800-49314600	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr11:49313800-49314800	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr11:49314000-49314800	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr11:49314400-49314800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr11:49319400-49319600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr11:49319800-49320400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr11:49320000-49320800	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr11:49320000-49320800	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr11:49320200-49320400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr11:49320200-49320600	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr11:49320400-49320600	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr11:49320400-49320600	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr11:49320600-49322000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr11:49320600-49322200	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr11:49320600-49322400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr11:49320800-49321800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr11:49322000-49322200	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr11:49322000-49322800	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr11:49322200-49322800	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr11:49322400-49322800	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr11:49322400-49322800	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr11:49322800-49324600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr11:49324600-49325000	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr11:49340000-49340400	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr11:49341400-49342200	Enhancers	Liver	Liver
48	chr11:49347600-49348600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr11:49347600-49348600	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr11:49347800-49349400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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