Variant report

Variant	nsv521662
Chromosome Location	chr11:18225742-18227151
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:18225776-18225941	GM12891	blood:	n/a	n/a
2	CTCF	chr11:18225820-18225970	GM12875	blood:	n/a	n/a
3	CTCF	chr11:18225777-18225906	GM19240	blood:	n/a	n/a
4	CTCF	chr11:18225116-18225819	SK-N-SH	brain:	n/a	n/a
5	CTCF	chr11:18225789-18225870	GM10248	blood:	n/a	n/a
6	CTCF	chr11:18226140-18226290	HFF	foreskin:	n/a	n/a
7	CTCF	chr11:18225720-18225870	HBMEC	blood vessel:	n/a	n/a
8	CTCF	chr11:18225760-18225910	HPAF	blood vessel:	n/a	n/a
9	CTCF	chr11:18225740-18225890	GM12870	blood:	n/a	n/a
10	CTCF	chr11:18226100-18226250	GM12872	blood:	n/a	n/a
11	CTCF	chr11:18225801-18225863	GM12878	blood:	n/a	n/a
12	CTCF	chr11:18225133-18226229	A549	lung:	n/a	n/a
13	CTCF	chr11:18225780-18225930	HEK293	kidney:	n/a	n/a
14	CTCF	chr11:18225840-18225990	GM12874	blood:	n/a	n/a
15	CTCF	chr11:18225241-18225770	HCT-116	colon:	n/a	n/a
16	CTCF	chr11:18225760-18225910	AG04449	skin:	n/a	n/a
17	CTCF	chr11:18225800-18225838	Fibrobl	skin:	n/a	n/a
18	CTCF	chr11:18225812-18225885	GM19238	blood:	n/a	n/a
19	CTCF	chr11:18225798-18225884	GM12892	blood:	n/a	n/a
20	RAD21	chr11:18225300-18225769	A549	lung:	n/a	n/a
21	RAD21	chr11:18225129-18225791	SK-N-SH	brain:	n/a	n/a
22	RAD21	chr11:18225244-18225829	HCT-116	colon:	n/a	n/a
23	RAD21	chr11:18225256-18225788	A549	lung:	n/a	n/a
24	RAD21	chr11:18225162-18225758	HCT-116	colon:	n/a	n/a
25	RAD21	chr11:18225224-18225754	HepG2	liver:	n/a	n/a
26	YY1	chr11:18225229-18225743	H1-hESC	embryonic stem cell:	n/a	n/a
27	YY1	chr11:18225229-18225745	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:18227070-18227120	BE2_C	brain:	n/a
2	chr11:18227070-18227120	GM06990	blood:	n/a
3	chr11:18227070-18227120	GM12892	blood:	n/a
4	chr11:18227070-18227120	HCT-116	colon:	n/a
5	chr11:18227070-18227120	T-47D	breast:	n/a
6	chr11:18227070-18227120	HNPCEpiC	eye:	n/a
7	chr11:18227070-18227120	LNCaP	prostate:	n/a
8	chr11:18227070-18227120	MCF-7	breast:	n/a
9	chr11:18227070-18227120	A549	lung:	n/a
10	chr11:18227070-18227120	HCF	heart:	n/a
11	chr11:18227070-18227120	HepG2	liver:	n/a
12	chr11:18227070-18227120	HUVEC	blood vessel:	n/a
13	chr11:18227070-18227120	HMEC	breast:	n/a
14	chr11:18227070-18227120	NHDF-neo	bronchial:	n/a
15	chr11:18227070-18227120	AG09319	gingival:	n/a
16	chr11:18227070-18227120	SK-N-SH_RA	brain:	n/a
17	chr11:18227070-18227120	HAEpiC	amniotic membrane:	n/a
18	chr11:18227070-18227120	NB4	blood:	n/a
19	chr11:18227070-18227120	H1-hESC	embryonic stem cell:	embryo
20	chr11:18227070-18227120	HCPEpiC	choroid plexus:	n/a
21	chr11:18227070-18227120	HL-60	blood:	n/a
22	chr11:18227070-18227120	HPAEpiC	pulmonary alveolar:	n/a
23	chr11:18227070-18227120	PANC-1	pancreas:	n/a
24	chr11:18227070-18227120	HRCEpiC	kidney:	n/a
25	chr11:18227070-18227120	AG04450	lung:	fetal
26	chr11:18227070-18227120	MCF10A-Er-Src	breast:	n/a
27	chr11:18227070-18227120	HEK293	kidney:	embryo
28	chr11:18227070-18227120	AG10803	skin:	n/a
29	chr11:18227070-18227120	GM12891	blood:	n/a
30	chr11:18227070-18227120	AG09309	skin:	n/a
31	chr11:18227070-18227120	NHBE	bronchial:	n/a
32	chr11:18227070-18227120	HCM	heart:	n/a
33	chr11:18227070-18227120	HEEpiC	esophagus:	n/a
34	chr11:18227070-18227120	IMR90	lung:	fetal
35	chr11:18227070-18227120	RPTEC	kidney:	n/a
36	chr11:18227070-18227120	HRE	kidney:	n/a
37	chr11:18227070-18227120	AG04449	skin:	fetal
38	chr11:18227070-18227120	NT2-D1	testis:	n/a
39	chr11:18227070-18227120	Caco-2	colon:	n/a
40	chr11:18227070-18227120	U87	brain:	n/a
41	chr11:18227070-18227120	Hela-S3	cervix:	n/a
42	chr11:18227070-18227120	K562	blood:	n/a
43	chr11:18227070-18227120	CMK	blood:	n/a
44	chr11:18227070-18227120	PrEC	prostate:	n/a
45	chr11:18227070-18227120	SAEC	small airway:	n/a
46	chr11:18227070-18227120	BJ	skin:	n/a
47	chr11:18227070-18227120	NH-A	brain:	n/a
48	chr11:18227070-18227120	ECC-1	luminal epithelium:	n/a
49	chr11:18227070-18227120	Hepatocyte	liver:	n/a
50	chr11:18227070-18227120	HIPEpiC	eye:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:18137122..18138032-chr11:18224986..18226232,4	MCF-7	breast:
2	chr11:18192633..18193561-chr11:18225013..18225969,5	MCF-7	breast:
3	chr11:18136749..18137777-chr11:18224999..18225996,5	K562	blood:
4	chr11:18224870..18226785-chr11:18415110..18417568,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000189332	TF binding region
ENSG00000189332	CpG island
ENSG00000166787	chromatin interactions
ENSG00000134333	chromatin interactions

Extended variants
information (count: 70 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2468802	chr11:18225742-18225743	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs543873793	chr11:18225757-18225758	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs2516309	chr11:18225774-18225775	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs569757578	chr11:18225792-18225793	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs183198833	chr11:18225798-18225799	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs72879963	chr11:18225799-18225800	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs11824673	chr11:18225827-18225828	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs187491349	chr11:18225837-18225838	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs190484182	chr11:18225857-18225858	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs183018592	chr11:18225891-18225892	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs2460821	chr11:18225910-18225911	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs2468801	chr11:18225926-18225927	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs188123677	chr11:18225936-18225937	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs192451974	chr11:18225952-18225953	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs562752310	chr11:18226012-18226013	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs529304366	chr11:18226042-18226043	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs114860026	chr11:18226046-18226047	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs2468800	chr11:18226068-18226069	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs536199925	chr11:18226075-18226076	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs184375065	chr11:18226091-18226092	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs187939824	chr11:18226098-18226099	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs141565557	chr11:18226116-18226117	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs551873839	chr11:18226186-18226187	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs569717555	chr11:18226203-18226204	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs78079887	chr11:18226219-18226220	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs555239360	chr11:18226299-18226300	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs549787768	chr11:18226312-18226313	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs116141753	chr11:18226328-18226329	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs35959311	chr11:18226407-18226408	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs397848301	chr11:18226408-18226409	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs529968560	chr11:18226417-18226418	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs534613017	chr11:18226428-18226429	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs114414762	chr11:18226435-18226436	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs577586410	chr11:18226442-18226443	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs544741641	chr11:18226464-18226465	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs373500010	chr11:18226473-18226474	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs2460822	chr11:18226502-18226503	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs35183581	chr11:18226514-18226515	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs576690667	chr11:18226537-18226538	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs76763918	chr11:18226557-18226558	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs562361872	chr11:18226562-18226563	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs138530567	chr11:18226592-18226593	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs548113072	chr11:18226603-18226604	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs557074907	chr11:18226609-18226610	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs559461951	chr11:18226632-18226633	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs376054412	chr11:18226669-18226670	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs117497015	chr11:18226707-18226708	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs144336763	chr11:18226727-18226728	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs570178704	chr11:18226741-18226742	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs2460823	chr11:18226742-18226743	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:52)

Disease	PMID	Source
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
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
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Lung adenocarcinoma	17086460	CNVD
Urothelial cell carcinoma	18451213	CNVD
Lung cancer	17086460	CNVD
Uterine serous papillary cancer	19536090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18211200-18225800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:18223400-18226000	Weak transcription	Spleen	Spleen
3	chr11:18225800-18226000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:18226000-18226200	Enhancers	Spleen	Spleen
5	chr11:18226000-18230800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:18226800-18227000	Bivalent Enhancer	Fetal Muscle Trunk	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links