Variant report

Variant	esv2762911
Chromosome Location	chr11:49313235-49388513
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	chr11:49377197-49377351	K562	blood:	n/a	chr11:49377237-49377248
3	CEBPB	chr11:49332880-49333223	IMR90	lung:	n/a	n/a
4	CEBPB	chr11:49332869-49333147	HepG2	liver:	n/a	n/a
5	CEBPB	chr11:49387001-49387231	IMR90	lung:	n/a	chr11:49387090-49387107
6	CEBPB	chr11:49386995-49387243	A549	lung:	n/a	chr11:49387090-49387107
7	CTCF	chr11:49324010-49324181	HUVEC	blood vessel:	n/a	n/a
8	CTCF	chr11:49340030-49340071	Pancreas_OC	pancreas:	n/a	n/a
9	CTCF	chr11:49318017-49318064	Kidney_OC	kidney:	n/a	n/a
10	CTCF	chr11:49339405-49339580	K562	blood:	n/a	n/a
11	CTCF	chr11:49324040-49324190	Caco-2	colon:	n/a	n/a
12	CTCF	chr11:49383384-49383451	GM10248	blood:	n/a	n/a
13	CTCF	chr11:49324075-49324150	LNCaP	prostate:	n/a	n/a
14	CTCF	chr11:49374420-49374570	GM12864	blood:	n/a	n/a
15	CTCF	chr11:49335020-49335089	ProgFib	skin:	n/a	n/a
16	CTCF	chr11:49366554-49366659	GM10248	blood:	n/a	n/a
17	E2F4	chr11:49341977-49342137	MCF10A-Er-Src	breast:	n/a	n/a
18	E2F4	chr11:49360415-49360778	MCF10A-Er-Src	breast:	n/a	n/a
19	E2F4	chr11:49381100-49381219	MCF10A-Er-Src	breast:	n/a	n/a
20	E2F4	chr11:49380393-49380480	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr11:49387092-49387112	MCF10A-Er-Src	breast:	n/a	n/a
22	JUN	chr11:49348960-49349482	HUVEC	blood vessel:	n/a	chr11:49349211-49349219 chr11:49349183-49349192
23	MAFF	chr11:49374548-49374748	K562	blood:	n/a	chr11:49374606-49374624
24	MAFF	chr11:49358837-49359104	HepG2	liver:	n/a	chr11:49358976-49358994
25	MAFF	chr11:49358901-49359089	K562	blood:	n/a	chr11:49358976-49358994
26	MAFF	chr11:49374474-49374772	HepG2	liver:	n/a	chr11:49374606-49374624
27	MAFK	chr11:49374518-49374772	IMR90	lung:	n/a	n/a
28	MAFK	chr11:49374565-49374741	K562	blood:	n/a	n/a
29	MAFK	chr11:49341949-49342039	HepG2	liver:	n/a	n/a
30	MAFK	chr11:49387008-49387031	Hela-S3	cervix:	n/a	n/a
31	MAFK	chr11:49382459-49382783	HepG2	liver:	n/a	n/a
32	MAFK	chr11:49358915-49359008	K562	blood:	n/a	chr11:49358981-49358992
33	MAFK	chr11:49337767-49337955	HepG2	liver:	n/a	chr11:49337897-49337908 chr11:49337895-49337909 chr11:49337896-49337912 chr11:49337896-49337907 chr11:49337897-49337908
34	MAFK	chr11:49358878-49359087	HepG2	liver:	n/a	chr11:49358981-49358992
35	MAFK	chr11:49358896-49359082	Hela-S3	cervix:	n/a	chr11:49358981-49358992
36	MAFK	chr11:49357196-49357396	HepG2	liver:	n/a	chr11:49357324-49357334 chr11:49357328-49357339 chr11:49357328-49357339
37	MAFK	chr11:49374550-49374761	Hela-S3	cervix:	n/a	n/a
38	MAFK	chr11:49374468-49374768	HepG2	liver:	n/a	n/a
39	MAFK	chr11:49366874-49367086	HepG2	liver:	n/a	n/a
40	MAFK	chr11:49374482-49374764	HepG2	liver:	n/a	n/a
41	MAFK	chr11:49358808-49359111	HepG2	liver:	n/a	chr11:49358981-49358992
42	MAZ	chr11:49365671-49365796	HepG2	liver:	n/a	n/a
43	MYC	chr11:49362411-49362611	MCF10A-Er-Src	breast:	n/a	n/a
44	MYC	chr11:49379091-49379130	MCF-7	breast:	n/a	n/a
45	MYC	chr11:49367105-49367223	K562	blood:	n/a	n/a
46	MYC	chr11:49379167-49379201	MCF-7	breast:	n/a	n/a
47	MYC	chr11:49379203-49379258	MCF-7	breast:	n/a	n/a
48	MYC	chr11:49320036-49320151	MCF-7	breast:	n/a	n/a
49	PBX3	chr11:49381265-49381357	GM12878	blood:	n/a	n/a
50	POLR2A	chr11:49379153-49379281	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000255532	TF binding region

Extended variants
information (count: 793 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:793 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10769572	chr11:49313235-49313236	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs372813545	chr11:49313264-49313265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527871500	chr11:49313278-49313279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528787681	chr11:49313316-49313317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577846864	chr11:49313318-49313319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs10839257	chr11:49313338-49313339	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs185527927	chr11:49313346-49313347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533019409	chr11:49313393-49313394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189649194	chr11:49313418-49313419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181936744	chr11:49313480-49313481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569631279	chr11:49313595-49313596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375707626	chr11:49313648-49313649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4085612	chr11:49313649-49313650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369175172	chr11:49313670-49313671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555622116	chr11:49313690-49313691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs1917314	chr11:49313691-49313692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557183718	chr11:49313715-49313716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185159410	chr11:49313733-49313734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs4118029	chr11:49313747-49313748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530988017	chr11:49313773-49313774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7951180	chr11:49313800-49313801	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs542747577	chr11:49313848-49313849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534628362	chr11:49313866-49313867	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144875262	chr11:49313873-49313874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1917315	chr11:49313895-49313896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553919096	chr11:49313911-49313912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188339185	chr11:49314004-49314005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546230091	chr11:49314017-49314018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556427639	chr11:49314019-49314020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs141038303	chr11:49314196-49314197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567629971	chr11:49314213-49314214	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560938613	chr11:49314237-49314238	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562345949	chr11:49314273-49314274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145086430	chr11:49314287-49314288	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181157202	chr11:49314300-49314301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564624351	chr11:49314301-49314302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200513883	chr11:49314331-49314332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2866349	chr11:49314336-49314337	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs540210992	chr11:49314429-49314430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549840445	chr11:49314448-49314449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs186661951	chr11:49314462-49314463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs528861122	chr11:49314464-49314465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs10839258	chr11:49314465-49314466	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs565355871	chr11:49314493-49314494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs114765665	chr11:49314582-49314583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs140585019	chr11:49314607-49314608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs115256556	chr11:49314621-49314622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs557602217	chr11:49314662-49314663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs191507882	chr11:49314674-49314675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs536838552	chr11:49314755-49314756	Enhancers	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:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:49306200-49314400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:49309200-49313800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr11:49310200-49313800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr11:49313800-49314200	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr11:49313800-49314600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr11:49313800-49314800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr11:49314000-49314800	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr11:49314400-49314800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr11:49319400-49319600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr11:49319800-49320400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr11:49320000-49320800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr11:49320000-49320800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr11:49320200-49320400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr11:49320200-49320600	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr11:49320400-49320600	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr11:49320400-49320600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr11:49320600-49322000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr11:49320600-49322200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr11:49320600-49322400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr11:49320800-49321800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr11:49322000-49322200	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr11:49322000-49322800	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr11:49322200-49322800	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr11:49322400-49322800	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr11:49322400-49322800	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr11:49322800-49324600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr11:49324600-49325000	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr11:49340000-49340400	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr11:49341400-49342200	Enhancers	Liver	Liver
30	chr11:49347600-49348600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr11:49347600-49348600	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr11:49347800-49349400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr11:49347800-49350400	Enhancers	HUVEC	blood vessel
34	chr11:49348000-49348600	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr11:49348000-49349400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr11:49348200-49348600	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr11:49348200-49350200	Enhancers	Ovary	ovary
38	chr11:49348400-49348800	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr11:49348400-49348800	Enhancers	Fetal Heart	heart
40	chr11:49348800-49349000	Flanking Active TSS	Fetal Heart	heart
41	chr11:49349000-49349200	Enhancers	Fetal Heart	heart
42	chr11:49349200-49349400	Flanking Active TSS	Fetal Heart	heart
43	chr11:49349200-49349800	Enhancers	Aorta	Aorta
44	chr11:49349400-49351600	Enhancers	Fetal Heart	heart
45	chr11:49351600-49353600	Weak transcription	Fetal Heart	heart
46	chr11:49353600-49354200	Enhancers	Fetal Heart	heart
47	chr11:49363000-49363400	Enhancers	Ovary	ovary
48	chr11:49384400-49384800	Enhancers	Ovary	ovary
49	chr11:49384800-49386200	Weak transcription	Ovary	ovary
50	chr11:49386200-49386600	Enhancers	Ovary	ovary

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