Variant report

Variant	nsv975157
Chromosome Location	chr11:18282114-18285015
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:57)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:57 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:18284352-18284561	HepG2	liver:	n/a	n/a
2	CEBPB	chr11:18284523-18284860	A549	lung:	n/a	chr11:18284695-18284706
3	CEBPB	chr11:18284533-18284888	H1-hESC	embryonic stem cell:	n/a	chr11:18284695-18284706
4	CEBPB	chr11:18284538-18284777	K562	blood:	n/a	chr11:18284695-18284706
5	CEBPB	chr11:18284611-18284733	HepG2	liver:	n/a	chr11:18284695-18284706
6	CEBPB	chr11:18284536-18284736	K562	blood:	n/a	chr11:18284695-18284706
7	CEBPB	chr11:18284529-18284888	IMR90	lung:	n/a	chr11:18284695-18284706
8	CEBPB	chr11:18284294-18284895	Hela-S3	cervix:	n/a	chr11:18284695-18284706
9	CEBPB	chr11:18284522-18284859	HepG2	liver:	n/a	chr11:18284695-18284706
10	CHD2	chr11:18284376-18284388	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr11:18284078-18284098	Pancreas_OC	pancreas:	n/a	n/a
12	CTCF	chr11:18283538-18283603	Kidney_OC	kidney:	n/a	n/a
13	EP300	chr11:18284294-18284500	H1-hESC	embryonic stem cell:	n/a	n/a
14	FOSL2	chr11:18284408-18284717	HepG2	liver:	n/a	n/a
15	FOSL2	chr11:18284265-18284663	HepG2	liver:	n/a	n/a
16	FOXA1	chr11:18285014-18285455	HepG2	liver:	n/a	n/a
17	HEY1	chr11:18283451-18283652	K562	blood:	n/a	n/a
18	HEY1	chr11:18283465-18283681	K562	blood:	n/a	n/a
19	HEY1	chr11:18283416-18283709	HepG2	liver:	n/a	n/a
20	HNF4G	chr11:18284288-18284539	HepG2	liver:	n/a	n/a
21	HNF4G	chr11:18284275-18284558	HepG2	liver:	n/a	n/a
22	JUND	chr11:18284356-18284599	HepG2	liver:	n/a	n/a
23	JUND	chr11:18284373-18284442	H1-hESC	embryonic stem cell:	n/a	n/a
24	JUND	chr11:18284986-18285222	HepG2	liver:	n/a	chr11:18285076-18285085 chr11:18285156-18285163
25	MAZ	chr11:18282220-18282252	HepG2	liver:	n/a	n/a
26	NANOG	chr11:18284281-18284502	H1-hESC	embryonic stem cell:	n/a	n/a
27	NFIC	chr11:18284265-18284485	HepG2	liver:	n/a	n/a
28	POLR2A	chr11:18283528-18283592	MCF-7	breast:	n/a	n/a
29	POLR2A	chr11:18283478-18283652	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr11:18284241-18284486	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr11:18283450-18283631	GM12878	blood:	n/a	n/a
32	POLR2A	chr11:18283404-18283735	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr11:18283490-18283604	HepG2	liver:	n/a	n/a
34	POLR2A	chr11:18283902-18284810	H1-hESC	embryonic stem cell:	n/a	n/a
35	RCOR1	chr11:18284371-18284497	HepG2	liver:	n/a	n/a
36	RCOR1	chr11:18284301-18284619	Hela-S3	cervix:	n/a	n/a
37	REST	chr11:18284243-18284653	H1-hESC	embryonic stem cell:	n/a	n/a
38	REST	chr11:18284177-18284556	H1-hESC	embryonic stem cell:	n/a	n/a
39	RXRA	chr11:18284375-18284741	HepG2	liver:	n/a	n/a
40	RXRA	chr11:18284178-18284703	HepG2	liver:	n/a	n/a
41	SMC3	chr11:18284301-18284500	Hela-S3	cervix:	n/a	n/a
42	SP1	chr11:18284160-18284868	HepG2	liver:	n/a	chr11:18284425-18284436
43	SP1	chr11:18284254-18284607	H1-hESC	embryonic stem cell:	n/a	chr11:18284425-18284436
44	SP1	chr11:18284225-18284524	H1-hESC	embryonic stem cell:	n/a	chr11:18284425-18284436
45	SPI1	chr11:18283460-18283700	GM12878	blood:	n/a	n/a
46	STAT3	chr11:18284427-18284452	MCF10A-Er-Src	breast:	n/a	n/a
47	STAT3	chr11:18284294-18284466	MCF10A-Er-Src	breast:	n/a	n/a
48	STAT3	chr11:18284264-18284684	MCF10A-Er-Src	breast:	n/a	n/a
49	TAF1	chr11:18283423-18283749	H1-hESC	embryonic stem cell:	n/a	n/a
50	TBP	chr11:18284426-18284448	Hela-S3	cervix:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:18283327-18283377	HRPEpiC	eye:	n/a
2	chr11:18283327-18283377	SAEC	small airway:	n/a
3	chr11:18283327-18283377	HNPCEpiC	eye:	n/a
4	chr11:18283327-18283377	SK-N-SH	brain:	n/a
5	chr11:18283327-18283377	GM19239	blood:	n/a
6	chr11:18283327-18283377	CMK	blood:	n/a
7	chr11:18283327-18283377	HRCEpiC	kidney:	n/a
8	chr11:18283327-18283377	Hela-S3	cervix:	n/a
9	chr11:18283327-18283377	MCF10A-Er-Src	breast:	n/a
10	chr11:18283327-18283377	GM12892	blood:	n/a
11	chr11:18283327-18283377	HCPEpiC	choroid plexus:	n/a
12	chr11:18283327-18283377	ovcar-3	ovarian:	n/a
13	chr11:18283327-18283377	SK-N-MC	brain:	n/a
14	chr11:18283327-18283377	GM12878	blood:	n/a
15	chr11:18283327-18283377	AG09319	gingival:	n/a
16	chr11:18283327-18283377	HCT-116	colon:	n/a
17	chr11:18283327-18283377	ECC-1	luminal epithelium:	n/a
18	chr11:18283327-18283377	GM12891	blood:	n/a
19	chr11:18283327-18283377	NB4	blood:	n/a
20	chr11:18283327-18283377	NT2-D1	testis:	n/a
21	chr11:18283327-18283377	LNCaP	prostate:	n/a
22	chr11:18283327-18283377	NH-A	brain:	n/a
23	chr11:18283327-18283377	GM06990	blood:	n/a
24	chr11:18283327-18283377	PANC-1	pancreas:	n/a
25	chr11:18283327-18283377	HUVEC	blood vessel:	n/a
26	chr11:18283327-18283377	SK-N-SH_RA	brain:	n/a
27	chr11:18283327-18283377	H1-hESC	embryonic stem cell:	embryo
28	chr11:18283327-18283377	HMEC	breast:	n/a
29	chr11:18283327-18283377	HPAEpiC	pulmonary alveolar:	n/a
30	chr11:18283327-18283377	HRE	kidney:	n/a
31	chr11:18283327-18283377	BE2_C	brain:	n/a
32	chr11:18283327-18283377	HEEpiC	esophagus:	n/a
33	chr11:18283327-18283377	Jurkat	blood:	n/a
34	chr11:18283327-18283377	HEK293	kidney:	embryo
35	chr11:18283327-18283377	HCM	heart:	n/a
36	chr11:18283327-18283377	T-47D	breast:	n/a
37	chr11:18283327-18283377	RPTEC	kidney:	n/a
38	chr11:18283327-18283377	K562	blood:	n/a
39	chr11:18283327-18283377	HL-60	blood:	n/a
40	chr11:18283327-18283377	AoSMC	blood vessel:	n/a
41	chr11:18283327-18283377	HIPEpiC	eye:	n/a
42	chr11:18283327-18283377	HAEpiC	amniotic membrane:	n/a
43	chr11:18283327-18283377	AG10803	skin:	n/a
44	chr11:18283327-18283377	AG09309	skin:	n/a
45	chr11:18283327-18283377	BJ	skin:	n/a
46	chr11:18283327-18283377	ProgFib	skin:	n/a
47	chr11:18283327-18283377	Hepatocyte	liver:	n/a
48	chr11:18283327-18283377	HCF	heart:	n/a
49	chr11:18283327-18283377	AG04449	skin:	fetal
50	chr11:18283327-18283377	A549	lung:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:18284620..18287566-chr11:18415998..18418094,2	K562	blood:
2	chr11:18280479..18282742-chr11:18290533..18293287,2	K562	blood:
3	chr11:18283937..18286938-chr13:37573373..37575594,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SAA2-2	chr11:18283800-18284110	XLOC_009387
2	lnc-SAA2-2	chr11:18284205-18284297	XLOC_009387

No data

Variant related genes	Relation type
RNA5SP334	TF binding region
ST13P5	TF binding region
SAA1	TF binding region
RNA5SP334	CpG island
ST13P5	CpG island
SAA1	CpG island
ENSG00000120697	chromatin interactions
ENSG00000134333	chromatin interactions
ENSG00000120699	chromatin interactions
GYS1	miRNA target sites
GXYLT1	miRNA target sites

Extended variants
information (count: 130 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114539524	chr11:18282146-18282147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183337049	chr11:18282169-18282170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543986061	chr11:18282170-18282171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs117601552	chr11:18282176-18282177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562390184	chr11:18282184-18282185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574379307	chr11:18282219-18282220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562151293	chr11:18282231-18282232	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs117084277	chr11:18282261-18282262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560210036	chr11:18282271-18282272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs113401479	chr11:18282391-18282392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs200964041	chr11:18282392-18282393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs78899263	chr11:18282393-18282394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs78914159	chr11:18282407-18282408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs368774320	chr11:18282414-18282415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528669294	chr11:18282421-18282422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs547246677	chr11:18282422-18282423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs12803622	chr11:18282441-18282442	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs559724244	chr11:18282453-18282454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs114923680	chr11:18282463-18282464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs550952273	chr11:18282469-18282470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs61882740	chr11:18282518-18282519	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs536663224	chr11:18282560-18282561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548361465	chr11:18282597-18282598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566652303	chr11:18282598-18282599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs560153634	chr11:18282629-18282630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs370723613	chr11:18282635-18282636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs144096846	chr11:18282641-18282642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570409398	chr11:18282642-18282643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537701789	chr11:18282690-18282691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs556431421	chr11:18282789-18282790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs77170895	chr11:18282793-18282794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531403203	chr11:18282825-18282826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs541831291	chr11:18282836-18282837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs370000394	chr11:18282863-18282864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs553567713	chr11:18282874-18282875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs572208460	chr11:18282886-18282887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs79603499	chr11:18282887-18282888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568214728	chr11:18282991-18282992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs565528082	chr11:18283055-18283056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs187707705	chr11:18283107-18283108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs544541649	chr11:18283126-18283127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs146472902	chr11:18283163-18283164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs530017938	chr11:18283172-18283173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs548598604	chr11:18283199-18283200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs149904193	chr11:18283200-18283201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs566616371	chr11:18283213-18283214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs527826220	chr11:18283238-18283239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs527260467	chr11:18283245-18283246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs563890774	chr11:18283288-18283289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs570273732	chr11:18283334-18283335	Weak transcription Enhancers	CpG island	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18273800-18283400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr11:18276800-18283200	Weak transcription	Adipose Nuclei	Adipose
3	chr11:18278400-18293200	Weak transcription	Aorta	Aorta
4	chr11:18280400-18286200	Enhancers	HepG2	liver
5	chr11:18281400-18289400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr11:18282000-18282800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:18282000-18284200	Weak transcription	Liver	Liver
8	chr11:18282000-18285000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr11:18282000-18286600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr11:18282600-18283200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr11:18282800-18283000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:18283000-18283200	Enhancers	HSMMtube	muscle
13	chr11:18283000-18283400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr11:18283200-18283400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:18283200-18283400	Enhancers	Adipose Nuclei	Adipose
16	chr11:18283200-18283600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr11:18283200-18284200	Weak transcription	HSMMtube	muscle
18	chr11:18283400-18283600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:18283400-18283600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr11:18283400-18284400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr11:18283400-18284600	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr11:18283600-18285200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr11:18283600-18291000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr11:18283600-18301600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr11:18283800-18286800	Weak transcription	Adipose Nuclei	Adipose
26	chr11:18284000-18284600	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr11:18284200-18284400	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr11:18284200-18284400	Enhancers	H9 Cell Line	embryonic stem cell
29	chr11:18284200-18284400	Enhancers	Liver	Liver
30	chr11:18284200-18284400	Enhancers	Hela-S3	cervix
31	chr11:18284200-18285800	Enhancers	HSMMtube	muscle
32	chr11:18284400-18284600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr11:18284400-18284800	Weak transcription	Liver	Liver
34	chr11:18284400-18285000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr11:18284400-18285000	Weak transcription	Hela-S3	cervix
36	chr11:18284600-18285200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr11:18284600-18286200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr11:18284800-18285600	Enhancers	Liver	Liver
39	chr11:18285000-18285200	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr11:18285000-18285200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
41	chr11:18285000-18285200	Enhancers	GM12878-XiMat	blood
42	chr11:18285000-18285200	Enhancers	Hela-S3	cervix

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