Variant report

Variant	esv2756709
Chromosome Location	chr11:49304358-49398973
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:148)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:148 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:49386995-49387262	Hela-S3	cervix:	n/a	chr11:49387090-49387107
2	CEBPB	chr11:49386995-49387243	A549	lung:	n/a	chr11:49387090-49387107
3	CEBPB	chr11:49387001-49387231	IMR90	lung:	n/a	chr11:49387090-49387107
4	CEBPB	chr11:49332869-49333147	HepG2	liver:	n/a	n/a
5	CEBPB	chr11:49377197-49377351	K562	blood:	n/a	chr11:49377237-49377248
6	CEBPB	chr11:49332880-49333223	IMR90	lung:	n/a	n/a
7	CTCF	chr11:49339405-49339580	K562	blood:	n/a	n/a
8	CTCF	chr11:49393882-49393921	GM10248	blood:	n/a	n/a
9	CTCF	chr11:49324075-49324150	LNCaP	prostate:	n/a	n/a
10	CTCF	chr11:49393800-49393950	MCF-7	breast:	n/a	n/a
11	CTCF	chr11:49393808-49393948	HepG2	liver:	n/a	n/a
12	CTCF	chr11:49393843-49393986	Lung_OC	lung:	n/a	n/a
13	CTCF	chr11:49393800-49393950	RPTEC	kidney:	n/a	n/a
14	CTCF	chr11:49393822-49393962	HepG2	liver:	n/a	n/a
15	CTCF	chr11:49393580-49393870	MCF-7	breast:	n/a	n/a
16	CTCF	chr11:49393799-49393995	LNCaP	prostate:	n/a	n/a
17	CTCF	chr11:49393804-49393971	Hela-S3	cervix:	n/a	n/a
18	CTCF	chr11:49393840-49393990	HUVEC	blood vessel:	n/a	n/a
19	CTCF	chr11:49393780-49393930	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr11:49393800-49393950	GM12872	blood:	n/a	n/a
21	CTCF	chr11:49366554-49366659	GM10248	blood:	n/a	n/a
22	CTCF	chr11:49393720-49393870	NHEK	skin:	n/a	n/a
23	CTCF	chr11:49311960-49311967	Kidney_OC	kidney:	n/a	n/a
24	CTCF	chr11:49374420-49374570	GM12864	blood:	n/a	n/a
25	CTCF	chr11:49393840-49393965	Pancreas_OC	pancreas:	n/a	n/a
26	CTCF	chr11:49393749-49394019	HUVEC	blood vessel:	n/a	n/a
27	CTCF	chr11:49393874-49393919	GM20000	blood:	n/a	n/a
28	CTCF	chr11:49396798-49396833	GM13977	blood:	n/a	n/a
29	CTCF	chr11:49340030-49340071	Pancreas_OC	pancreas:	n/a	n/a
30	CTCF	chr11:49397517-49397556	Fibrobl	skin:	n/a	n/a
31	CTCF	chr11:49318017-49318064	Kidney_OC	kidney:	n/a	n/a
32	CTCF	chr11:49393798-49393988	GM12878	blood:	n/a	n/a
33	CTCF	chr11:49393740-49393890	GM12872	blood:	n/a	n/a
34	CTCF	chr11:49393820-49393991	LNCaP	prostate:	n/a	n/a
35	CTCF	chr11:49393842-49393981	Medullo	brain:	n/a	n/a
36	CTCF	chr11:49393815-49393995	Spleen_OC	spleen:	n/a	n/a
37	CTCF	chr11:49324040-49324190	Caco-2	colon:	n/a	n/a
38	CTCF	chr11:49393798-49394028	GM12878	blood:	n/a	n/a
39	CTCF	chr11:49393873-49393876	GM10248	blood:	n/a	n/a
40	CTCF	chr11:49383384-49383451	GM10248	blood:	n/a	n/a
41	CTCF	chr11:49393789-49393996	MCF-7	breast:	n/a	n/a
42	CTCF	chr11:49335020-49335089	ProgFib	skin:	n/a	n/a
43	CTCF	chr11:49393764-49393987	Kidney_OC	kidney:	n/a	n/a
44	CTCF	chr11:49393720-49393870	RPTEC	kidney:	n/a	n/a
45	CTCF	chr11:49396707-49396731	GM10248	blood:	n/a	n/a
46	CTCF	chr11:49393854-49393987	GM13977	blood:	n/a	n/a
47	CTCF	chr11:49393843-49393975	MCF-7	breast:	n/a	n/a
48	CTCF	chr11:49393845-49393941	GM10266	blood:	n/a	n/a
49	CTCF	chr11:49324010-49324181	HUVEC	blood vessel:	n/a	n/a
50	CTCF	chr11:49305012-49305129	MCF-7	breast:	n/a	chr11:49305064-49305085

No data

Variant related genes	Relation type
ENSG00000255532	TF binding region

Extended variants
information (count: 1466 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:1466 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1164681	chr11:49304358-49304359	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs377471981	chr11:49304372-49304373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543859425	chr11:49304387-49304388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11823986	chr11:49304426-49304427	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs371361548	chr11:49304444-49304445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374391171	chr11:49304452-49304453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188245622	chr11:49304498-49304499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562768671	chr11:49304503-49304504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548595675	chr11:49304519-49304520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568773152	chr11:49304535-49304536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191021593	chr11:49304554-49304555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12805697	chr11:49304574-49304575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182734490	chr11:49304651-49304652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs554372413	chr11:49304676-49304677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571076793	chr11:49304785-49304786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs539504561	chr11:49304795-49304796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs187421498	chr11:49304828-49304829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576105332	chr11:49304849-49304850	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140359655	chr11:49304882-49304883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555357957	chr11:49304894-49304895	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531542360	chr11:49304989-49304990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192274625	chr11:49305002-49305003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs2866341	chr11:49305019-49305020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs3960831	chr11:49305048-49305049	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2866342	chr11:49305059-49305060	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2903257	chr11:49305078-49305079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2866343	chr11:49305133-49305134	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540991287	chr11:49305175-49305176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564275144	chr11:49305176-49305177	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2866344	chr11:49305217-49305218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2866345	chr11:49305225-49305226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs1814629	chr11:49305235-49305236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs3081109	chr11:49305239-49305240	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184863139	chr11:49305246-49305247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545844534	chr11:49305269-49305270	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550523105	chr11:49305319-49305320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562686300	chr11:49305333-49305334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541988365	chr11:49305362-49305363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2866346	chr11:49305387-49305388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201211305	chr11:49305396-49305397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188064863	chr11:49305419-49305420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548594831	chr11:49305422-49305423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs111679745	chr11:49305427-49305428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs527379319	chr11:49305450-49305451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527957540	chr11:49305455-49305456	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547790696	chr11:49305531-49305532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142606183	chr11:49305536-49305537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540086298	chr11:49305579-49305580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192711743	chr11:49305602-49305603	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573593398	chr11:49305722-49305723	Enhancers 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:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:49295800-49309000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:49302800-49304800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:49304600-49305000	Enhancers	Fetal Kidney	kidney
4	chr11:49304800-49306200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr11:49305000-49305600	Enhancers	Adipose Nuclei	Adipose
6	chr11:49305800-49306200	Enhancers	Fetal Brain Male	brain
7	chr11:49306200-49314400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:49307600-49309400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr11:49307800-49309200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr11:49307800-49309600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr11:49308000-49309200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr11:49308600-49309400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:49309000-49309600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr11:49309200-49313800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr11:49309600-49310000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr11:49310000-49310200	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr11:49310200-49313800	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr11:49313800-49314200	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr11:49313800-49314600	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr11:49313800-49314800	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr11:49314000-49314800	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr11:49314400-49314800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr11:49319400-49319600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr11:49319800-49320400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr11:49320000-49320800	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr11:49320000-49320800	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr11:49320200-49320400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr11:49320200-49320600	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr11:49320400-49320600	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr11:49320400-49320600	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr11:49320600-49322000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr11:49320600-49322200	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr11:49320600-49322400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr11:49320800-49321800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr11:49322000-49322200	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr11:49322000-49322800	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr11:49322200-49322800	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr11:49322400-49322800	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr11:49322400-49322800	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr11:49322800-49324600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr11:49324600-49325000	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr11:49340000-49340400	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr11:49341400-49342200	Enhancers	Liver	Liver
44	chr11:49347600-49348600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr11:49347600-49348600	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr11:49347800-49349400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr11:49347800-49350400	Enhancers	HUVEC	blood vessel
48	chr11:49348000-49348600	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr11:49348000-49349400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr11:49348200-49348600	Enhancers	HUES6 Cell Line	embryonic stem cell

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