Variant report

Variant	esv3514993
Chromosome Location	chr11:49305276-49332374
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	CTCF	chr11:49311960-49311967	Kidney_OC	kidney:	n/a	n/a
2	CTCF	chr11:49324010-49324181	HUVEC	blood vessel:	n/a	n/a
3	CTCF	chr11:49324040-49324190	Caco-2	colon:	n/a	n/a
4	CTCF	chr11:49318017-49318064	Kidney_OC	kidney:	n/a	n/a
5	CTCF	chr11:49324075-49324150	LNCaP	prostate:	n/a	n/a
6	FOXA1	chr11:49308448-49308734	T-47D	breast:	n/a	chr11:49308600-49308615
7	FOXA1	chr11:49306434-49306745	T-47D	breast:	n/a	chr11:49306617-49306629
8	FOXA1	chr11:49306436-49306788	T-47D	breast:	n/a	chr11:49306617-49306629
9	MYC	chr11:49320036-49320151	MCF-7	breast:	n/a	n/a
10	POLR2A	chr11:49326609-49326749	ProgFib	skin:	n/a	n/a
11	POLR2A	chr11:49314333-49314527	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr11:49329809-49329887	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr11:49310275-49310475	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr11:49319079-49319102	K562	blood:	n/a	n/a
15	POLR2A	chr11:49307325-49307607	SK-N-MC	brain:	n/a	n/a
16	POLR2A	chr11:49320173-49320263	MCF-7	breast:	n/a	n/a
17	POLR2A	chr11:49320614-49320795	GM12878	blood:	n/a	n/a
18	POLR2A	chr11:49306433-49306596	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr11:49320062-49320116	MCF-7	breast:	n/a	n/a
20	POLR2A	chr11:49313748-49313930	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr11:49320248-49320278	A549	lung:	n/a	n/a
22	POLR2A	chr11:49317762-49317923	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr11:49319998-49320126	A549	lung:	n/a	n/a
24	POLR2A	chr11:49315646-49315687	MCF10A-Er-Src	breast:	n/a	n/a
25	SMC3	chr11:49324117-49324128	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
ENSG00000255532	TF binding region

Extended variants
information (count: 543 )
Associated
traits (count: 46 )

Variant overlapped rSNPs/rCNVs (count:543 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550523105	chr11:49305319-49305320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562686300	chr11:49305333-49305334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541988365	chr11:49305362-49305363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2866346	chr11:49305387-49305388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201211305	chr11:49305396-49305397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188064863	chr11:49305419-49305420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548594831	chr11:49305422-49305423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111679745	chr11:49305427-49305428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527379319	chr11:49305450-49305451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527957540	chr11:49305455-49305456	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547790696	chr11:49305531-49305532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142606183	chr11:49305536-49305537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540086298	chr11:49305579-49305580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192711743	chr11:49305602-49305603	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573593398	chr11:49305722-49305723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139223942	chr11:49305733-49305734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374551384	chr11:49305796-49305797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184128768	chr11:49305805-49305806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532730608	chr11:49305812-49305813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549543349	chr11:49305843-49305844	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571964586	chr11:49305869-49305870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534878675	chr11:49305902-49305903	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs150849139	chr11:49305905-49305906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577411313	chr11:49305930-49305931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543250814	chr11:49305939-49305940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189485165	chr11:49305966-49305967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576509446	chr11:49305986-49305987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12789191	chr11:49306033-49306034	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs555917527	chr11:49306036-49306037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs56360955	chr11:49306043-49306044	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs181138581	chr11:49306051-49306052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376420930	chr11:49306052-49306053	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12806285	chr11:49306063-49306064	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs184059977	chr11:49306084-49306085	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188850547	chr11:49306085-49306086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140033455	chr11:49306086-49306087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143468054	chr11:49306093-49306094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535502779	chr11:49306141-49306142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548816395	chr11:49306188-49306189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565626283	chr11:49306211-49306212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs367624820	chr11:49306246-49306247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181649098	chr11:49306251-49306252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557620282	chr11:49306252-49306253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112702234	chr11:49306307-49306308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs1164682	chr11:49306361-49306362	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs556708978	chr11:49306386-49306387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573768845	chr11:49306396-49306397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373788916	chr11:49306434-49306435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186215253	chr11:49306441-49306442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541111856	chr11:49306442-49306443	Weak transcription	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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:49295800-49309000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:49304800-49306200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:49305000-49305600	Enhancers	Adipose Nuclei	Adipose
4	chr11:49305800-49306200	Enhancers	Fetal Brain Male	brain
5	chr11:49306200-49314400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr11:49307600-49309400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr11:49307800-49309200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr11:49307800-49309600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr11:49308000-49309200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr11:49308600-49309400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:49309000-49309600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:49309200-49313800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr11:49309600-49310000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr11:49310000-49310200	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr11:49310200-49313800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr11:49313800-49314200	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr11:49313800-49314600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr11:49313800-49314800	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr11:49314000-49314800	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr11:49314400-49314800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr11:49319400-49319600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr11:49319800-49320400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr11:49320000-49320800	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr11:49320000-49320800	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr11:49320200-49320400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr11:49320200-49320600	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr11:49320400-49320600	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr11:49320400-49320600	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr11:49320600-49322000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr11:49320600-49322200	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr11:49320600-49322400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr11:49320800-49321800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr11:49322000-49322200	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr11:49322000-49322800	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr11:49322200-49322800	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr11:49322400-49322800	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr11:49322400-49322800	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr11:49322800-49324600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr11:49324600-49325000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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