Variant report

Variant	esv1805534
Chromosome Location	chr11:49112522-49120170
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFF	chr11:49115035-49115204	K562	blood:	n/a	n/a
2	MAFK	chr11:49114962-49115242	HepG2	liver:	n/a	chr11:49115099-49115110 chr11:49115099-49115110
3	MAFK	chr11:49114977-49115248	IMR90	lung:	n/a	chr11:49115099-49115110 chr11:49115099-49115110
4	RCOR1	chr11:49114017-49114169	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:49120127-49120177	SK-N-MC	brain:	n/a
2	chr11:49120127-49120177	MCF10A-Er-Src	breast:	n/a
3	chr11:49120127-49120177	MCF-7	breast:	n/a
4	chr11:49120127-49120177	Jurkat	blood:	n/a
5	chr11:49120127-49120177	HepG2	liver:	n/a
6	chr11:49120127-49120177	NHDF-neo	bronchial:	n/a
7	chr11:49120127-49120177	HCF	heart:	n/a
8	chr11:49120127-49120177	Hela-S3	cervix:	n/a
9	chr11:49120127-49120177	AG10803	skin:	n/a
10	chr11:49120127-49120177	SKMC	muscle:	n/a
11	chr11:49120127-49120177	K562	blood:	n/a
12	chr11:49120127-49120177	RPTEC	kidney:	n/a
13	chr11:49120127-49120177	GM12892	blood:	n/a
14	chr11:49120127-49120177	HPAEpiC	pulmonary alveolar:	n/a
15	chr11:49120127-49120177	HEEpiC	esophagus:	n/a
16	chr11:49120127-49120177	H1-hESC	embryonic stem cell:	embryo
17	chr11:49120127-49120177	GM06990	blood:	n/a
18	chr11:49120127-49120177	HAEpiC	amniotic membrane:	n/a
19	chr11:49120127-49120177	HRCEpiC	kidney:	n/a
20	chr11:49120127-49120177	NH-A	brain:	n/a
21	chr11:49120127-49120177	ovcar-3	ovarian:	n/a
22	chr11:49120127-49120177	AG09319	gingival:	n/a
23	chr11:49120127-49120177	GM19239	blood:	n/a
24	chr11:49120127-49120177	SK-N-SH	brain:	n/a
25	chr11:49120127-49120177	PANC-1	pancreas:	n/a
26	chr11:49120127-49120177	HNPCEpiC	eye:	n/a
27	chr11:49120127-49120177	HRE	kidney:	n/a
28	chr11:49120127-49120177	BJ	skin:	n/a
29	chr11:49120127-49120177	NHBE	bronchial:	n/a
30	chr11:49120127-49120177	A549	lung:	n/a
31	chr11:49120127-49120177	PrEC	prostate:	n/a
32	chr11:49120127-49120177	HCT-116	colon:	n/a
33	chr11:49120127-49120177	HMEC	breast:	n/a
34	chr11:49120127-49120177	HRPEpiC	eye:	n/a
35	chr11:49120127-49120177	AG09309	skin:	n/a
36	chr11:49120127-49120177	HEK293	kidney:	embryo
37	chr11:49120127-49120177	HL-60	blood:	n/a
38	chr11:49120127-49120177	AG04450	lung:	fetal
39	chr11:49120127-49120177	AoSMC	blood vessel:	n/a
40	chr11:49120127-49120177	GM12891	blood:	n/a
41	chr11:49120127-49120177	U87	brain:	n/a
42	chr11:49120127-49120177	IMR90	lung:	fetal
43	chr11:49120127-49120177	T-47D	breast:	n/a
44	chr11:49120127-49120177	AG04449	skin:	fetal
45	chr11:49120127-49120177	Caco-2	colon:	n/a
46	chr11:49120127-49120177	GM12878	blood:	n/a
47	chr11:49120127-49120177	BE2_C	brain:	n/a
48	chr11:49120127-49120177	HIPEpiC	eye:	n/a
49	chr11:49120127-49120177	HCPEpiC	choroid plexus:	n/a
50	chr11:49120127-49120177	HUVEC	blood vessel:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC084851.1-1	chr11:49113956-49114319	NONHSAT021308

No data

Variant related genes	Relation type
ENSG00000255452	TF binding region
ENSG00000255452	CpG island

Extended variants
information (count: 13 )
Associated
traits (count: 47 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562516725	chr11:49112585-49112586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs112966116	chr11:49112613-49112614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs112027816	chr11:49112684-49112685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2727018	chr11:49112795-49112796	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs531938301	chr11:49114043-49114044	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs144825451	chr11:49114063-49114064	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs531717423	chr11:49114152-49114153	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs187927968	chr11:49114191-49114192	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs568736475	chr11:49114243-49114244	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs139760893	chr11:49114269-49114270	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs375618666	chr11:49114297-49114298	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs191232248	chr11:49114299-49114300	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs528600352	chr11:49114314-49114315	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:47)

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
small cell lung cancer	17426248	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:49110400-49112800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links