Variant report

Variant	nsv554354
Chromosome Location	chr11:49310952-49438332
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:169)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:169 , 50 per page) page: 1 2 3 4

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	chr11:49387001-49387231	IMR90	lung:	n/a	chr11:49387090-49387107
3	CEBPB	chr11:49377197-49377351	K562	blood:	n/a	chr11:49377237-49377248
4	CEBPB	chr11:49386995-49387243	A549	lung:	n/a	chr11:49387090-49387107
5	CEBPB	chr11:49332869-49333147	HepG2	liver:	n/a	n/a
6	CEBPB	chr11:49410762-49410940	HepG2	liver:	n/a	n/a
7	CEBPB	chr11:49386995-49387262	Hela-S3	cervix:	n/a	chr11:49387090-49387107
8	CTCF	chr11:49393720-49393870	RPTEC	kidney:	n/a	n/a
9	CTCF	chr11:49393840-49393990	HUVEC	blood vessel:	n/a	n/a
10	CTCF	chr11:49393882-49393921	GM10248	blood:	n/a	n/a
11	CTCF	chr11:49383384-49383451	GM10248	blood:	n/a	n/a
12	CTCF	chr11:49393800-49393950	MCF-7	breast:	n/a	n/a
13	CTCF	chr11:49393854-49393987	GM13977	blood:	n/a	n/a
14	CTCF	chr11:49414325-49414401	LNCaP	prostate:	n/a	n/a
15	CTCF	chr11:49404186-49404276	MCF-7	breast:	n/a	n/a
16	CTCF	chr11:49339405-49339580	K562	blood:	n/a	n/a
17	CTCF	chr11:49393789-49393996	MCF-7	breast:	n/a	n/a
18	CTCF	chr11:49393740-49393890	GM12872	blood:	n/a	n/a
19	CTCF	chr11:49324075-49324150	LNCaP	prostate:	n/a	n/a
20	CTCF	chr11:49393804-49393971	Hela-S3	cervix:	n/a	n/a
21	CTCF	chr11:49397517-49397556	Fibrobl	skin:	n/a	n/a
22	CTCF	chr11:49340030-49340071	Pancreas_OC	pancreas:	n/a	n/a
23	CTCF	chr11:49393808-49393948	HepG2	liver:	n/a	n/a
24	CTCF	chr11:49393720-49393870	NHEK	skin:	n/a	n/a
25	CTCF	chr11:49396798-49396833	GM13977	blood:	n/a	n/a
26	CTCF	chr11:49437125-49437149	GM20000	blood:	n/a	n/a
27	CTCF	chr11:49366554-49366659	GM10248	blood:	n/a	n/a
28	CTCF	chr11:49393580-49393870	MCF-7	breast:	n/a	n/a
29	CTCF	chr11:49393840-49393965	Pancreas_OC	pancreas:	n/a	n/a
30	CTCF	chr11:49417357-49417438	GM13976	blood:	n/a	n/a
31	CTCF	chr11:49393800-49393950	RPTEC	kidney:	n/a	n/a
32	CTCF	chr11:49393780-49393930	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr11:49393798-49394028	GM12878	blood:	n/a	n/a
34	CTCF	chr11:49393764-49393987	Kidney_OC	kidney:	n/a	n/a
35	CTCF	chr11:49335020-49335089	ProgFib	skin:	n/a	n/a
36	CTCF	chr11:49324010-49324181	HUVEC	blood vessel:	n/a	n/a
37	CTCF	chr11:49393799-49393995	LNCaP	prostate:	n/a	n/a
38	CTCF	chr11:49393820-49393991	LNCaP	prostate:	n/a	n/a
39	CTCF	chr11:49324040-49324190	Caco-2	colon:	n/a	n/a
40	CTCF	chr11:49393800-49393950	GM12872	blood:	n/a	n/a
41	CTCF	chr11:49393874-49393919	GM20000	blood:	n/a	n/a
42	CTCF	chr11:49393798-49393988	GM12878	blood:	n/a	n/a
43	CTCF	chr11:49396707-49396731	GM10248	blood:	n/a	n/a
44	CTCF	chr11:49393845-49393941	GM10266	blood:	n/a	n/a
45	CTCF	chr11:49393843-49393986	Lung_OC	lung:	n/a	n/a
46	CTCF	chr11:49393815-49393995	Spleen_OC	spleen:	n/a	n/a
47	CTCF	chr11:49393843-49393975	MCF-7	breast:	n/a	n/a
48	CTCF	chr11:49393873-49393876	GM10248	blood:	n/a	n/a
49	CTCF	chr11:49374420-49374570	GM12864	blood:	n/a	n/a
50	CTCF	chr11:49393842-49393981	Medullo	brain:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC084851.1-8	chr11:49427742-49428266	NONHSAT021315

No data

Variant related genes	Relation type
TYRL	TF binding region
ENSG00000255532	TF binding region
CBX3P8	TF binding region

Extended variants
information (count: 1922 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:1922 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7925896	chr11:49310952-49310953	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs554355303	chr11:49310981-49310982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574505954	chr11:49310995-49310996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186594151	chr11:49311038-49311039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553766640	chr11:49311056-49311057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7939300	chr11:49311134-49311135	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs7939316	chr11:49311208-49311209	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs560072542	chr11:49311285-49311286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201242254	chr11:49311305-49311306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562817228	chr11:49311410-49311411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs16914263	chr11:49311418-49311419	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs145052597	chr11:49311499-49311500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561756487	chr11:49311551-49311552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191961143	chr11:49311568-49311569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546700758	chr11:49311577-49311578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535321931	chr11:49311584-49311585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532419623	chr11:49311694-49311695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552444672	chr11:49311711-49311712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569572116	chr11:49311729-49311730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538036366	chr11:49311755-49311756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183777080	chr11:49311768-49311769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568572933	chr11:49311779-49311780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs34561568	chr11:49311784-49311785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533829453	chr11:49311954-49311955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189190857	chr11:49312010-49312011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576903627	chr11:49312013-49312014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10769571	chr11:49312058-49312059	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs76374512	chr11:49312092-49312093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571912085	chr11:49312108-49312109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191243418	chr11:49312109-49312110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs34637014	chr11:49312147-49312148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182349793	chr11:49312161-49312162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544323102	chr11:49312199-49312200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138902299	chr11:49312203-49312204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186662187	chr11:49312214-49312215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs77341716	chr11:49312218-49312219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368001767	chr11:49312244-49312245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7121968	chr11:49312255-49312256	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs10839256	chr11:49312259-49312260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11459270	chr11:49312276-49312277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7122073	chr11:49312370-49312371	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs562766675	chr11:49312402-49312403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531995454	chr11:49312441-49312442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368808278	chr11:49312496-49312497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548608141	chr11:49312520-49312521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568590852	chr11:49312521-49312522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1164680	chr11:49312532-49312533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547504361	chr11:49312641-49312642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113219172	chr11:49312647-49312648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570595354	chr11:49312670-49312671	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:83 , 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

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links