Variant report

Variant	nsv972016
Chromosome Location	chr11:49246163-49330536
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	BRCA1	chr11:49276871-49276887	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr11:49254642-49254944	HepG2	liver:	n/a	chr11:49254764-49254775
3	CEBPB	chr11:49254600-49254929	IMR90	lung:	n/a	chr11:49254764-49254775
4	CEBPB	chr11:49254638-49254944	A549	lung:	n/a	chr11:49254764-49254775
5	CEBPB	chr11:49254574-49254946	Hela-S3	cervix:	n/a	chr11:49254764-49254775
6	CTCF	chr11:49253560-49253710	RPTEC	kidney:	n/a	n/a
7	CTCF	chr11:49276517-49276590	Kidney_OC	kidney:	n/a	n/a
8	CTCF	chr11:49252220-49252370	AG04450	lung:	n/a	n/a
9	CTCF	chr11:49250789-49250894	K562	blood:	n/a	chr11:49250843-49250861 chr11:49250845-49250866
10	CTCF	chr11:49250763-49250951	MCF-7	breast:	n/a	chr11:49250843-49250861 chr11:49250845-49250866
11	CTCF	chr11:49250745-49250903	A549	lung:	n/a	chr11:49250843-49250861 chr11:49250845-49250866
12	CTCF	chr11:49252198-49252377	MCF-7	breast:	n/a	n/a
13	CTCF	chr11:49250748-49250941	HepG2	liver:	n/a	chr11:49250843-49250861 chr11:49250845-49250866
14	CTCF	chr11:49253345-49253533	MCF-7	breast:	n/a	n/a
15	CTCF	chr11:49252240-49252390	MCF-7	breast:	n/a	n/a
16	CTCF	chr11:49250808-49250914	MCF-7	breast:	n/a	chr11:49250843-49250861 chr11:49250845-49250866
17	CTCF	chr11:49250800-49250950	Caco-2	colon:	n/a	chr11:49250843-49250861 chr11:49250845-49250866
18	CTCF	chr11:49252064-49252082	Kidney_OC	kidney:	n/a	n/a
19	CTCF	chr11:49294731-49294782	ProgFib	skin:	n/a	n/a
20	CTCF	chr11:49294844-49294932	MCF-7	breast:	n/a	n/a
21	CTCF	chr11:49249027-49249086	Kidney_OC	kidney:	n/a	n/a
22	CTCF	chr11:49273654-49273664	GM20000	blood:	n/a	n/a
23	CTCF	chr11:49253444-49253484	Spleen_OC	spleen:	n/a	n/a
24	CTCF	chr11:49252214-49252323	NHEK	skin:	n/a	n/a
25	CTCF	chr11:49250775-49250890	GM10248	blood:	n/a	chr11:49250843-49250861 chr11:49250845-49250866
26	CTCF	chr11:49253399-49253506	Kidney_OC	kidney:	n/a	n/a
27	CTCF	chr11:49253440-49253590	RPTEC	kidney:	n/a	n/a
28	CTCF	chr11:49294892-49294928	MCF-7	breast:	n/a	n/a
29	CTCF	chr11:49250752-49250913	Hela-S3	cervix:	n/a	chr11:49250843-49250861 chr11:49250845-49250866
30	CTCF	chr11:49252234-49252333	LNCaP	prostate:	n/a	n/a
31	CTCF	chr11:49259165-49259169	GM10266	blood:	n/a	n/a
32	CTCF	chr11:49252220-49252363	LNCaP	prostate:	n/a	n/a
33	CTCF	chr11:49294876-49294937	Fibrobl	skin:	n/a	n/a
34	CTCF	chr11:49250737-49250951	Pancreas_OC	pancreas:	n/a	chr11:49250843-49250861 chr11:49250845-49250866
35	CTCF	chr11:49324075-49324150	LNCaP	prostate:	n/a	n/a
36	CTCF	chr11:49277257-49277358	Kidney_OC	kidney:	n/a	n/a
37	CTCF	chr11:49252200-49252350	RPTEC	kidney:	n/a	n/a
38	CTCF	chr11:49250671-49250940	A549	lung:	n/a	chr11:49250843-49250861 chr11:49250845-49250866
39	CTCF	chr11:49294885-49294890	MCF-7	breast:	n/a	n/a
40	CTCF	chr11:49281411-49281513	GM13976	blood:	n/a	n/a
41	CTCF	chr11:49252160-49252310	HBMEC	blood vessel:	n/a	n/a
42	CTCF	chr11:49305012-49305129	MCF-7	breast:	n/a	chr11:49305064-49305085
43	CTCF	chr11:49250744-49250932	IMR90	lung:	n/a	chr11:49250843-49250861 chr11:49250845-49250866
44	CTCF	chr11:49283962-49283968	GM20000	blood:	n/a	n/a
45	CTCF	chr11:49260642-49260719	Kidney_OC	kidney:	n/a	n/a
46	CTCF	chr11:49250900-49251050	RPTEC	kidney:	n/a	n/a
47	CTCF	chr11:49250761-49250918	GM12878	blood:	n/a	chr11:49250843-49250861 chr11:49250845-49250866
48	CTCF	chr11:49252220-49252370	HBMEC	blood vessel:	n/a	n/a
49	CTCF	chr11:49273666-49273687	GM20000	blood:	n/a	n/a
50	CTCF	chr11:49250715-49250997	HepG2	liver:	n/a	chr11:49250843-49250861 chr11:49250845-49250866

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:

Variant related genes	Relation type
ENSG00000255532	TF binding region

Extended variants
information (count: 1675 )
Associated
traits (count: 46 )

Variant overlapped rSNPs/rCNVs (count:1675 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17743650	chr11:49246176-49246177	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs534381439	chr11:49246222-49246223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545386434	chr11:49246247-49246248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs79031298	chr11:49246264-49246265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs611414	chr11:49246281-49246282	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs2931187	chr11:49246292-49246293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543384194	chr11:49246307-49246308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557030337	chr11:49246355-49246356	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189738450	chr11:49246424-49246425	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2931186	chr11:49246427-49246428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542990755	chr11:49246472-49246473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374494229	chr11:49246475-49246476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12275994	chr11:49246509-49246510	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs115259004	chr11:49246539-49246540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559316004	chr11:49246541-49246542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564625805	chr11:49246573-49246574	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs180970114	chr11:49246579-49246580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186289290	chr11:49246591-49246592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs117334335	chr11:49246669-49246670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368783922	chr11:49246672-49246673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529538878	chr11:49246677-49246678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569739189	chr11:49246692-49246693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs57165791	chr11:49246693-49246694	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs368999848	chr11:49246722-49246723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548772427	chr11:49246759-49246760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565903144	chr11:49246784-49246785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535246309	chr11:49246847-49246848	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375158034	chr11:49246850-49246851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571305197	chr11:49246857-49246858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536786289	chr11:49246860-49246861	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191579515	chr11:49246862-49246863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146871620	chr11:49246873-49246874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542902540	chr11:49246887-49246888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553318367	chr11:49246904-49246905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572922976	chr11:49246941-49246942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183418417	chr11:49246960-49246961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs598101	chr11:49246979-49246980	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs533453892	chr11:49247017-49247018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543554765	chr11:49247045-49247046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs597683	chr11:49247052-49247053	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs529265903	chr11:49247092-49247093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188467044	chr11:49247157-49247158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566014671	chr11:49247229-49247230	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528817201	chr11:49247231-49247232	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551942756	chr11:49247244-49247245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs596754	chr11:49247256-49247257	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs147914963	chr11:49247264-49247265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs596740	chr11:49247266-49247267	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190526484	chr11:49247267-49247268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557676753	chr11:49247286-49247287	Enhancers 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:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:49245200-49254600	Weak transcription	Fetal Intestine Small	intestine
2	chr11:49245400-49251000	Weak transcription	Brain Substantia Nigra	brain
3	chr11:49245600-49246600	Weak transcription	Brain Hippocampus Middle	brain
4	chr11:49245600-49246800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr11:49245600-49247600	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr11:49246000-49246800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr11:49246400-49247400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:49246600-49247200	Enhancers	Brain Hippocampus Middle	brain
9	chr11:49246800-49247000	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr11:49247200-49251000	Weak transcription	Brain Hippocampus Middle	brain
11	chr11:49251000-49251200	Enhancers	Liver	Liver
12	chr11:49251000-49251200	Enhancers	Brain Hippocampus Middle	brain
13	chr11:49251000-49251400	Enhancers	Brain Angular Gyrus	brain
14	chr11:49251000-49252400	Enhancers	Brain Substantia Nigra	brain
15	chr11:49251200-49251800	Weak transcription	Brain Hippocampus Middle	brain
16	chr11:49251400-49251800	Weak transcription	Brain Angular Gyrus	brain
17	chr11:49251800-49252400	Enhancers	Brain Angular Gyrus	brain
18	chr11:49251800-49252600	Enhancers	Brain Hippocampus Middle	brain
19	chr11:49252000-49252200	Enhancers	Fetal Brain Male	brain
20	chr11:49252400-49253200	Weak transcription	Brain Substantia Nigra	brain
21	chr11:49252600-49253200	Weak transcription	Brain Hippocampus Middle	brain
22	chr11:49253200-49253400	Enhancers	Brain Hippocampus Middle	brain
23	chr11:49253200-49253400	Enhancers	Brain Substantia Nigra	brain
24	chr11:49254000-49256000	Enhancers	HUVEC	blood vessel
25	chr11:49254600-49255200	Enhancers	Fetal Intestine Large	intestine
26	chr11:49254600-49255400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr11:49254600-49255800	Enhancers	Fetal Intestine Small	intestine
28	chr11:49254800-49255200	Enhancers	Duodenum Mucosa	Duodenum
29	chr11:49255000-49255600	Enhancers	HepG2	liver
30	chr11:49255200-49255600	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr11:49272200-49272600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr11:49272200-49272600	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr11:49277400-49277600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr11:49278600-49278800	Enhancers	Fetal Intestine Large	intestine
35	chr11:49278800-49279600	Weak transcription	Fetal Intestine Large	intestine
36	chr11:49279600-49280400	Enhancers	Fetal Intestine Large	intestine
37	chr11:49280400-49285800	Weak transcription	Fetal Intestine Large	intestine
38	chr11:49285800-49286000	Enhancers	Fetal Intestine Large	intestine
39	chr11:49295400-49295800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr11:49295800-49309000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr11:49302600-49302800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr11:49302800-49304800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr11:49304600-49305000	Enhancers	Fetal Kidney	kidney
44	chr11:49304800-49306200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr11:49305000-49305600	Enhancers	Adipose Nuclei	Adipose
46	chr11:49305800-49306200	Enhancers	Fetal Brain Male	brain
47	chr11:49306200-49314400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr11:49307600-49309400	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr11:49307800-49309200	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr11:49307800-49309600	Enhancers	HUES48 Cell Line	embryonic stem cell

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