Variant report

Variant	esv2758269
Chromosome Location	chr11:49212237-49468966
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:577)
CpG islands
(count:916)
Chromatin interactive
region (count:2)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:577 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr11:49276871-49276887	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr11:49387001-49387231	IMR90	lung:	n/a	chr11:49387090-49387107
3	CEBPB	chr11:49332880-49333223	IMR90	lung:	n/a	n/a
4	CEBPB	chr11:49410762-49410940	HepG2	liver:	n/a	n/a
5	CEBPB	chr11:49254642-49254944	HepG2	liver:	n/a	chr11:49254764-49254775
6	CEBPB	chr11:49254638-49254944	A549	lung:	n/a	chr11:49254764-49254775
7	CEBPB	chr11:49441094-49441294	HepG2	liver:	n/a	chr11:49441253-49441264
8	CEBPB	chr11:49254600-49254929	IMR90	lung:	n/a	chr11:49254764-49254775
9	CEBPB	chr11:49254574-49254946	Hela-S3	cervix:	n/a	chr11:49254764-49254775
10	CEBPB	chr11:49230935-49231032	HepG2	liver:	n/a	chr11:49230953-49230970
11	CEBPB	chr11:49377197-49377351	K562	blood:	n/a	chr11:49377237-49377248
12	CEBPB	chr11:49464233-49464511	Hela-S3	cervix:	n/a	chr11:49464339-49464350
13	CEBPB	chr11:49230862-49231062	A549	lung:	n/a	chr11:49230953-49230970
14	CEBPB	chr11:49464313-49464513	HepG2	liver:	n/a	chr11:49464339-49464350
15	CEBPB	chr11:49386995-49387262	Hela-S3	cervix:	n/a	chr11:49387090-49387107
16	CEBPB	chr11:49332869-49333147	HepG2	liver:	n/a	n/a
17	CEBPB	chr11:49386995-49387243	A549	lung:	n/a	chr11:49387090-49387107
18	CTCF	chr11:49253560-49253710	RPTEC	kidney:	n/a	n/a
19	CTCF	chr11:49250688-49250994	HUVEC	blood vessel:	n/a	chr11:49250843-49250861 chr11:49250845-49250866
20	CTCF	chr11:49252235-49252315	A549	lung:	n/a	n/a
21	CTCF	chr11:49242823-49242873	Pancreas_OC	pancreas:	n/a	n/a
22	CTCF	chr11:49456049-49456075	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr11:49318017-49318064	Kidney_OC	kidney:	n/a	n/a
24	CTCF	chr11:49393843-49393975	MCF-7	breast:	n/a	n/a
25	CTCF	chr11:49393822-49393962	HepG2	liver:	n/a	n/a
26	CTCF	chr11:49253399-49253506	Kidney_OC	kidney:	n/a	n/a
27	CTCF	chr11:49305012-49305129	MCF-7	breast:	n/a	chr11:49305064-49305085
28	CTCF	chr11:49393808-49393948	HepG2	liver:	n/a	n/a
29	CTCF	chr11:49249818-49249844	HepG2	liver:	n/a	n/a
30	CTCF	chr11:49277257-49277358	Kidney_OC	kidney:	n/a	n/a
31	CTCF	chr11:49242805-49242908	HepG2	liver:	n/a	n/a
32	CTCF	chr11:49250900-49251050	RPTEC	kidney:	n/a	n/a
33	CTCF	chr11:49250820-49250970	NHEK	skin:	n/a	chr11:49250843-49250861 chr11:49250845-49250866
34	CTCF	chr11:49242760-49242910	SK-N-SH_RA	brain:	n/a	n/a
35	CTCF	chr11:49455928-49456006	GM12892	blood:	n/a	n/a
36	CTCF	chr11:49252234-49252333	LNCaP	prostate:	n/a	n/a
37	CTCF	chr11:49254782-49254811	Kidney_OC	kidney:	n/a	n/a
38	CTCF	chr11:49393764-49393987	Kidney_OC	kidney:	n/a	n/a
39	CTCF	chr11:49455911-49456036	GM12891	blood:	n/a	n/a
40	CTCF	chr11:49393800-49393950	RPTEC	kidney:	n/a	n/a
41	CTCF	chr11:49456018-49456026	GM12892	blood:	n/a	n/a
42	CTCF	chr11:49417357-49417438	GM13976	blood:	n/a	n/a
43	CTCF	chr11:49455919-49456023	GM19240	blood:	n/a	n/a
44	CTCF	chr11:49250700-49250850	MCF-7	breast:	n/a	n/a
45	CTCF	chr11:49294731-49294782	ProgFib	skin:	n/a	n/a
46	CTCF	chr11:49324075-49324150	LNCaP	prostate:	n/a	n/a
47	CTCF	chr11:49393845-49393941	GM10266	blood:	n/a	n/a
48	CTCF	chr11:49443753-49443831	GM13976	blood:	n/a	n/a
49	CTCF	chr11:49383384-49383451	GM10248	blood:	n/a	n/a
50	CTCF	chr11:49396798-49396833	GM13977	blood:	n/a	n/a

(count:916 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:49453027-49453077	AG09319	gingival:	n/a
2	chr11:49453027-49453077	AG09319	gingival:	n/a
3	chr11:49230168-49230218	HRPEpiC	eye:	n/a
4	chr11:49455851-49455901	LNCaP	prostate:	n/a
5	chr11:49230548-49230598	SK-N-MC	brain:	n/a
6	chr11:49455851-49455901	SKMC	muscle:	n/a
7	chr11:49226370-49226420	HCT-116	colon:	n/a
8	chr11:49453027-49453077	PFSK-1	brain:	n/a
9	chr11:49229833-49229883	HRCEpiC	kidney:	n/a
10	chr11:49455166-49455216	ProgFib	skin:	n/a
11	chr11:49455164-49455214	Hela-S3	cervix:	n/a
12	chr11:49456067-49456117	U87	brain:	n/a
13	chr11:49455166-49455216	ECC-1	luminal epithelium:	n/a
14	chr11:49230036-49230086	SAEC	small airway:	n/a
15	chr11:49230168-49230218	NHBE	bronchial:	n/a
16	chr11:49455164-49455214	MCF-7	breast:	n/a
17	chr11:49458195-49458245	ProgFib	skin:	n/a
18	chr11:49455851-49455901	HRPEpiC	eye:	n/a
19	chr11:49455936-49455986	BJ	skin:	n/a
20	chr11:49453027-49453077	NT2-D1	testis:	n/a
21	chr11:49453027-49453077	HCPEpiC	choroid plexus:	n/a
22	chr11:49455936-49455986	LNCaP	prostate:	n/a
23	chr11:49229833-49229883	SK-N-SH	brain:	n/a
24	chr11:49226370-49226420	HCPEpiC	choroid plexus:	n/a
25	chr11:49455164-49455214	BJ	skin:	n/a
26	chr11:49455164-49455214	NHDF-neo	bronchial:	n/a
27	chr11:49456196-49456246	Hela-S3	cervix:	n/a
28	chr11:49229833-49229883	SKMC	muscle:	n/a
29	chr11:49455936-49455986	SK-N-SH_RA	brain:	n/a
30	chr11:49456196-49456246	MCF10A-Er-Src	breast:	n/a
31	chr11:49226370-49226420	HUVEC	blood vessel:	n/a
32	chr11:49456196-49456246	RPTEC	kidney:	n/a
33	chr11:49458195-49458245	LNCaP	prostate:	n/a
34	chr11:49455214-49455264	PrEC	prostate:	n/a
35	chr11:49229833-49229883	NH-A	brain:	n/a
36	chr11:49453027-49453077	IMR90	lung:	fetal
37	chr11:49458195-49458245	HCPEpiC	choroid plexus:	n/a
38	chr11:49215449-49215499	GM12878	blood:	n/a
39	chr11:49215449-49215499	HCPEpiC	choroid plexus:	n/a
40	chr11:49456067-49456117	AG09319	gingival:	n/a
41	chr11:49230168-49230218	NB4	blood:	n/a
42	chr11:49455936-49455986	HUVEC	blood vessel:	n/a
43	chr11:49455166-49455216	Caco-2	colon:	n/a
44	chr11:49455164-49455214	IMR90	lung:	fetal
45	chr11:49456196-49456246	Caco-2	colon:	n/a
46	chr11:49455166-49455216	PrEC	prostate:	n/a
47	chr11:49230548-49230598	AG04450	lung:	fetal
48	chr11:49456196-49456246	GM12892	blood:	n/a
49	chr11:49455936-49455986	HEK293	kidney:	embryo
50	chr11:49229833-49229883	HCM	heart:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:49251863..49252437-chr11:49547367..49548407,3	MCF-7	breast:
2	chr11:49250422..49251012-chr11:49547571..49548253,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC084851.1-9	chr11:49453962-49453989	NONHSAT021316
2	lnc-AC084851.1-8	chr11:49427742-49428266	NONHSAT021315
3	lnc-AC084851.1-9	chr11:49454982-49456076	NONHSAT021316

No data

Variant related genes	Relation type
ENSG00000255532	TF binding region
CBX3P8	TF binding region
TYRL	TF binding region
FOLH1	TF binding region
ENSG00000226268	TF binding region
ENSG00000255532	CpG island
CBX3P8	CpG island
TYRL	CpG island
FOLH1	CpG island
ENSG00000226268	CpG island

Extended variants
information (count: 4886 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:4886 , 50 per page) page: 1 2 3 4 5 6 7 ... 98

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146776202	chr11:49212256-49212257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs575776496	chr11:49212263-49212264	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544290254	chr11:49212343-49212344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs111636038	chr11:49212346-49212347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560858435	chr11:49212405-49212406	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529670554	chr11:49212427-49212428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546619558	chr11:49212469-49212470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113521966	chr11:49212526-49212527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560458064	chr11:49212534-49212535	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs367557924	chr11:49212538-49212539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532465774	chr11:49212598-49212599	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552226332	chr11:49212607-49212608	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569013359	chr11:49212632-49212633	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11040282	chr11:49212652-49212653	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs551046260	chr11:49212656-49212657	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs184501297	chr11:49212671-49212672	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs188218685	chr11:49212676-49212677	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs112022857	chr11:49212677-49212678	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs138602111	chr11:49212687-49212688	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
20	rs552972033	chr11:49212692-49212693	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185452851	chr11:49212699-49212700	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372896673	chr11:49212710-49212711	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538924969	chr11:49212731-49212732	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190708437	chr11:49212756-49212757	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575783674	chr11:49212764-49212765	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12805967	chr11:49212864-49212865	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12804560	chr11:49212871-49212872	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs114039508	chr11:49212927-49212928	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375761552	chr11:49212962-49212963	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144123719	chr11:49212963-49212964	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs78735544	chr11:49212968-49212969	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555723028	chr11:49212970-49212971	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs79863245	chr11:49212979-49212980	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560177255	chr11:49213008-49213009	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532175885	chr11:49213015-49213016	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12806209	chr11:49213045-49213046	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546077498	chr11:49213051-49213052	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12787145	chr11:49213086-49213087	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369361170	chr11:49213098-49213099	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562683056	chr11:49213112-49213113	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191231085	chr11:49213202-49213203	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183772814	chr11:49213246-49213247	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567394388	chr11:49213261-49213262	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577136849	chr11:49213281-49213282	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs72425967	chr11:49213288-49213289	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs60864934	chr11:49213289-49213290	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546717250	chr11:49213336-49213337	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562613787	chr11:49213343-49213344	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113161131	chr11:49213345-49213346	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs61886512	chr11:49213487-49213488	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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:390 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:49202600-49229400	Weak transcription	Fetal Lung	lung
2	chr11:49204600-49226200	Weak transcription	Duodenum Mucosa	Duodenum
3	chr11:49206600-49212600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr11:49206600-49212800	Weak transcription	Brain Angular Gyrus	brain
5	chr11:49207000-49229400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr11:49208400-49212600	Weak transcription	Fetal Intestine Small	intestine
7	chr11:49208600-49212600	Weak transcription	Fetal Intestine Large	intestine
8	chr11:49208800-49221200	Weak transcription	Liver	Liver
9	chr11:49211200-49212800	Weak transcription	Brain Hippocampus Middle	brain
10	chr11:49211200-49223200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr11:49211200-49223200	Weak transcription	Brain Substantia Nigra	brain
12	chr11:49211400-49212600	Weak transcription	Brain Anterior Caudate	brain
13	chr11:49211800-49213000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr11:49212000-49212400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr11:49212600-49212800	Enhancers	Brain Anterior Caudate	brain
16	chr11:49212600-49212800	Enhancers	Brain Cingulate Gyrus	brain
17	chr11:49212600-49213600	Strong transcription	Fetal Intestine Small	intestine
18	chr11:49212600-49213800	Strong transcription	Fetal Intestine Large	intestine
19	chr11:49212800-49213000	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr11:49212800-49213000	Enhancers	Brain Angular Gyrus	brain
21	chr11:49212800-49213400	Enhancers	Brain Hippocampus Middle	brain
22	chr11:49213600-49215400	Weak transcription	Fetal Intestine Small	intestine
23	chr11:49213800-49217200	Weak transcription	Fetal Intestine Large	intestine
24	chr11:49215400-49216000	Genic enhancers	Fetal Intestine Small	intestine
25	chr11:49216000-49217600	Weak transcription	Fetal Intestine Small	intestine
26	chr11:49217200-49217600	Enhancers	Fetal Intestine Large	intestine
27	chr11:49217600-49219600	Enhancers	Fetal Intestine Small	intestine
28	chr11:49217600-49220800	Weak transcription	Fetal Intestine Large	intestine
29	chr11:49219600-49220000	Genic enhancers	Fetal Intestine Small	intestine
30	chr11:49220000-49224000	Weak transcription	Fetal Intestine Small	intestine
31	chr11:49220800-49221200	Enhancers	Fetal Intestine Large	intestine
32	chr11:49221200-49221400	Enhancers	Liver	Liver
33	chr11:49221200-49224000	Weak transcription	Fetal Intestine Large	intestine
34	chr11:49221400-49221800	Weak transcription	Liver	Liver
35	chr11:49221800-49222400	Enhancers	Liver	Liver
36	chr11:49222200-49229400	Weak transcription	Fetal Stomach	stomach
37	chr11:49222400-49223200	Weak transcription	Liver	Liver
38	chr11:49223200-49223400	Enhancers	Brain Substantia Nigra	brain
39	chr11:49223200-49224200	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr11:49223200-49224400	Enhancers	Liver	Liver
41	chr11:49223400-49223800	Weak transcription	Brain Substantia Nigra	brain
42	chr11:49223800-49224400	Enhancers	Brain Substantia Nigra	brain
43	chr11:49224000-49224200	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr11:49224000-49224400	Enhancers	Brain Anterior Caudate	brain
45	chr11:49224000-49224400	Enhancers	Brain Cingulate Gyrus	brain
46	chr11:49224000-49224600	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
47	chr11:49224000-49226200	Enhancers	Brain Hippocampus Middle	brain
48	chr11:49224000-49226200	Strong transcription	Fetal Intestine Large	intestine
49	chr11:49224200-49228200	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr11:49224200-49228200	Weak transcription	Brain Inferior Temporal Lobe	brain

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