Variant report

Variant	nsv442230
Chromosome Location	chr11:49307804-49360691
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	chr11:49332880-49333223	IMR90	lung:	n/a	n/a
2	CEBPB	chr11:49332869-49333147	HepG2	liver:	n/a	n/a
3	CTCF	chr11:49324040-49324190	Caco-2	colon:	n/a	n/a
4	CTCF	chr11:49324010-49324181	HUVEC	blood vessel:	n/a	n/a
5	CTCF	chr11:49318017-49318064	Kidney_OC	kidney:	n/a	n/a
6	CTCF	chr11:49335020-49335089	ProgFib	skin:	n/a	n/a
7	CTCF	chr11:49324075-49324150	LNCaP	prostate:	n/a	n/a
8	CTCF	chr11:49340030-49340071	Pancreas_OC	pancreas:	n/a	n/a
9	CTCF	chr11:49311960-49311967	Kidney_OC	kidney:	n/a	n/a
10	CTCF	chr11:49339405-49339580	K562	blood:	n/a	n/a
11	E2F4	chr11:49360415-49360778	MCF10A-Er-Src	breast:	n/a	n/a
12	E2F4	chr11:49341977-49342137	MCF10A-Er-Src	breast:	n/a	n/a
13	FOXA1	chr11:49308448-49308734	T-47D	breast:	n/a	chr11:49308600-49308615
14	JUN	chr11:49348960-49349482	HUVEC	blood vessel:	n/a	chr11:49349211-49349219 chr11:49349183-49349192
15	MAFF	chr11:49358837-49359104	HepG2	liver:	n/a	chr11:49358976-49358994
16	MAFF	chr11:49358901-49359089	K562	blood:	n/a	chr11:49358976-49358994
17	MAFK	chr11:49358915-49359008	K562	blood:	n/a	chr11:49358981-49358992
18	MAFK	chr11:49358896-49359082	Hela-S3	cervix:	n/a	chr11:49358981-49358992
19	MAFK	chr11:49358878-49359087	HepG2	liver:	n/a	chr11:49358981-49358992
20	MAFK	chr11:49358808-49359111	HepG2	liver:	n/a	chr11:49358981-49358992
21	MAFK	chr11:49357196-49357396	HepG2	liver:	n/a	chr11:49357324-49357334 chr11:49357328-49357339 chr11:49357328-49357339
22	MAFK	chr11:49337767-49337955	HepG2	liver:	n/a	chr11:49337897-49337908 chr11:49337895-49337909 chr11:49337896-49337912 chr11:49337896-49337907 chr11:49337897-49337908
23	MAFK	chr11:49341949-49342039	HepG2	liver:	n/a	n/a
24	MYC	chr11:49320036-49320151	MCF-7	breast:	n/a	n/a
25	POLR2A	chr11:49339879-49339997	GM12878	blood:	n/a	n/a
26	POLR2A	chr11:49329809-49329887	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr11:49341687-49341822	GM12878	blood:	n/a	n/a
28	POLR2A	chr11:49320614-49320795	GM12878	blood:	n/a	n/a
29	POLR2A	chr11:49317762-49317923	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr11:49310275-49310475	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr11:49319998-49320126	A549	lung:	n/a	n/a
32	POLR2A	chr11:49354248-49354365	A549	lung:	n/a	n/a
33	POLR2A	chr11:49348698-49348754	HUVEC	blood vessel:	n/a	n/a
34	POLR2A	chr11:49336353-49336511	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr11:49340209-49340334	GM12878	blood:	n/a	n/a
36	POLR2A	chr11:49320248-49320278	A549	lung:	n/a	n/a
37	POLR2A	chr11:49315646-49315687	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr11:49313748-49313930	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr11:49353520-49353659	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr11:49314333-49314527	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr11:49320173-49320263	MCF-7	breast:	n/a	n/a
42	POLR2A	chr11:49320062-49320116	MCF-7	breast:	n/a	n/a
43	POLR2A	chr11:49348466-49348595	HUVEC	blood vessel:	n/a	n/a
44	POLR2A	chr11:49326609-49326749	ProgFib	skin:	n/a	n/a
45	POLR2A	chr11:49319079-49319102	K562	blood:	n/a	n/a
46	SMC3	chr11:49324117-49324128	Hela-S3	cervix:	n/a	n/a
47	ZKSCAN1	chr11:49335743-49335756	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
ENSG00000255532	TF binding region

Extended variants
information (count: 751 )
Associated
traits (count: 46 )

Variant overlapped rSNPs/rCNVs (count:751 , 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	rs61885292	chr11:49307810-49307811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs193015820	chr11:49307827-49307828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535082490	chr11:49307891-49307892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558289059	chr11:49307928-49307929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs549744686	chr11:49307996-49307997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185742011	chr11:49308039-49308040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10839255	chr11:49308081-49308082	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs557615521	chr11:49308096-49308097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574277086	chr11:49308143-49308144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12224733	chr11:49308211-49308212	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187500646	chr11:49308262-49308263	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528891018	chr11:49308264-49308265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78700532	chr11:49308318-49308319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573110822	chr11:49308392-49308393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs397842037	chr11:49308400-49308401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544655692	chr11:49308413-49308414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564684490	chr11:49308436-49308437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191383027	chr11:49308438-49308439	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs71479305	chr11:49308441-49308442	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs529913052	chr11:49308454-49308455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183920158	chr11:49308503-49308504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2866348	chr11:49308504-49308505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs79911015	chr11:49308515-49308516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566626781	chr11:49308537-49308538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2903258	chr11:49308572-49308573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532886780	chr11:49308617-49308618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534690889	chr11:49308618-49308619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369886452	chr11:49308679-49308680	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538885488	chr11:49308725-49308726	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs1164684	chr11:49308843-49308844	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs117934017	chr11:49308898-49308899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571802196	chr11:49308908-49308909	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs79624357	chr11:49308912-49308913	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs2010104	chr11:49308950-49308951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374509777	chr11:49308952-49308953	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs148668066	chr11:49309008-49309009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181545292	chr11:49309018-49309019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184175314	chr11:49309055-49309056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142105158	chr11:49309065-49309066	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs4088771	chr11:49309068-49309069	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs377423956	chr11:49309131-49309132	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139446073	chr11:49309204-49309205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs190305369	chr11:49309219-49309220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs181990939	chr11:49309234-49309235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs199727328	chr11:49309245-49309246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs544310713	chr11:49309304-49309305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs560681138	chr11:49309310-49309311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs529698548	chr11:49309347-49309348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs558424801	chr11:49309377-49309378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs546577478	chr11:49309378-49309379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:46)

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

Chromatin state (count:55 , 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	chr11:49306200-49314400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:49307600-49309400	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr11:49307800-49309200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr11:49307800-49309600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr11:49308000-49309200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr11:49308600-49309400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:49309000-49309600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:49309200-49313800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr11:49309600-49310000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr11:49310000-49310200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr11:49310200-49313800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr11:49313800-49314200	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr11:49313800-49314600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr11:49313800-49314800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr11:49314000-49314800	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr11:49314400-49314800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr11:49319400-49319600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr11:49319800-49320400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr11:49320000-49320800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr11:49320000-49320800	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr11:49320200-49320400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr11:49320200-49320600	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr11:49320400-49320600	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr11:49320400-49320600	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr11:49320600-49322000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr11:49320600-49322200	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr11:49320600-49322400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr11:49320800-49321800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr11:49322000-49322200	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr11:49322000-49322800	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr11:49322200-49322800	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr11:49322400-49322800	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr11:49322400-49322800	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr11:49322800-49324600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr11:49324600-49325000	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr11:49340000-49340400	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr11:49341400-49342200	Enhancers	Liver	Liver
39	chr11:49347600-49348600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr11:49347600-49348600	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr11:49347800-49349400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr11:49347800-49350400	Enhancers	HUVEC	blood vessel
43	chr11:49348000-49348600	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr11:49348000-49349400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr11:49348200-49348600	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr11:49348200-49350200	Enhancers	Ovary	ovary
47	chr11:49348400-49348800	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr11:49348400-49348800	Enhancers	Fetal Heart	heart
49	chr11:49348800-49349000	Flanking Active TSS	Fetal Heart	heart
50	chr11:49349000-49349200	Enhancers	Fetal Heart	heart

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