Variant report

Variant	nsv975950
Chromosome Location	chr11:77023974-77027331
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:184)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:77025038-77025146	K562	blood:	n/a	n/a
2	POLR2A	chr11:77026470-77026670	K562	blood:	n/a	n/a
3	TCF12	chr11:77024744-77025237	SK-N-SH	brain:	n/a	n/a

(count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:77024568-77024618	Caco-2	colon:	n/a
2	chr11:77024568-77024618	Caco-2	colon:	n/a
3	chr11:77024606-77024656	AG04449	skin:	fetal
4	chr11:77024667-77024717	NHBE	bronchial:	n/a
5	chr11:77024568-77024618	GM12891	blood:	n/a
6	chr11:77024667-77024717	AG09319	gingival:	n/a
7	chr11:77024667-77024717	SK-N-SH_RA	brain:	n/a
8	chr11:77024606-77024656	BJ	skin:	n/a
9	chr11:77024606-77024656	SKMC	muscle:	n/a
10	chr11:77024667-77024717	HIPEpiC	eye:	n/a
11	chr11:77024568-77024618	GM12892	blood:	n/a
12	chr11:77024667-77024717	HUVEC	blood vessel:	n/a
13	chr11:77024667-77024717	HRE	kidney:	n/a
14	chr11:77024606-77024656	ProgFib	skin:	n/a
15	chr11:77024667-77024717	PrEC	prostate:	n/a
16	chr11:77024568-77024618	HCM	heart:	n/a
17	chr11:77024667-77024717	BJ	skin:	n/a
18	chr11:77024568-77024618	AG04449	skin:	fetal
19	chr11:77024606-77024656	AG09319	gingival:	n/a
20	chr11:77024568-77024618	AG09319	gingival:	n/a
21	chr11:77024606-77024656	Hela-S3	cervix:	n/a
22	chr11:77024606-77024656	HUVEC	blood vessel:	n/a
23	chr11:77024667-77024717	BE2_C	brain:	n/a
24	chr11:77024568-77024618	SK-N-MC	brain:	n/a
25	chr11:77024667-77024717	HCT-116	colon:	n/a
26	chr11:77024667-77024717	RPTEC	kidney:	n/a
27	chr11:77024606-77024656	HEEpiC	esophagus:	n/a
28	chr11:77024606-77024656	AG04450	lung:	fetal
29	chr11:77024667-77024717	GM06990	blood:	n/a
30	chr11:77024606-77024656	GM12891	blood:	n/a
31	chr11:77024606-77024656	SK-N-SH	brain:	n/a
32	chr11:77024568-77024618	HRCEpiC	kidney:	n/a
33	chr11:77024667-77024717	T-47D	breast:	n/a
34	chr11:77024606-77024656	SK-N-SH_RA	brain:	n/a
35	chr11:77024568-77024618	ECC-1	luminal epithelium:	n/a
36	chr11:77024568-77024618	AoSMC	blood vessel:	n/a
37	chr11:77024667-77024717	CMK	blood:	n/a
38	chr11:77024667-77024717	GM12878	blood:	n/a
39	chr11:77024568-77024618	HRPEpiC	eye:	n/a
40	chr11:77024568-77024618	HUVEC	blood vessel:	n/a
41	chr11:77024606-77024656	NH-A	brain:	n/a
42	chr11:77024568-77024618	SKMC	muscle:	n/a
43	chr11:77024568-77024618	H1-hESC	embryonic stem cell:	embryo
44	chr11:77024568-77024618	Hepatocyte	liver:	n/a
45	chr11:77024667-77024717	IMR90	lung:	fetal
46	chr11:77024667-77024717	Caco-2	colon:	n/a
47	chr11:77024667-77024717	NH-A	brain:	n/a
48	chr11:77024606-77024656	GM06990	blood:	n/a
49	chr11:77024606-77024656	RPTEC	kidney:	n/a
50	chr11:77024606-77024656	ovcar-3	ovarian:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MYO7A-2	chr11:77024651-77025077	NONHSAT023213

No data

Variant related genes	Relation type
ENSG00000224829	TF binding region
ENSG00000224829	CpG island

Extended variants
information (count: 158 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:158 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577998749	chr11:77024013-77024014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538714981	chr11:77024018-77024019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370136552	chr11:77024029-77024030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189453434	chr11:77024062-77024063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375442367	chr11:77024110-77024111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536081606	chr11:77024136-77024137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552757057	chr11:77024158-77024159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143676042	chr11:77024235-77024236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544918773	chr11:77024251-77024252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558558311	chr11:77024293-77024294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577992566	chr11:77024306-77024307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543450008	chr11:77024319-77024320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182311293	chr11:77024320-77024321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186105167	chr11:77024413-77024414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs2100393	chr11:77024433-77024434	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs59482411	chr11:77024436-77024437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs56657411	chr11:77024437-77024438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528660457	chr11:77024472-77024473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552084324	chr11:77024483-77024484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs565414793	chr11:77024496-77024497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs530575101	chr11:77024499-77024500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs181443287	chr11:77024502-77024503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs113891570	chr11:77024527-77024528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185534200	chr11:77024537-77024538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs535944926	chr11:77024546-77024547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs546255538	chr11:77024580-77024581	Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
27	rs566365727	chr11:77024583-77024584	Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
28	rs538434001	chr11:77024619-77024620	Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
29	rs542657697	chr11:77024626-77024627	Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
30	rs373423207	chr11:77024632-77024633	Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
31	rs2084964	chr11:77024637-77024638	Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
32	rs561822143	chr11:77024638-77024639	Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
33	rs575442209	chr11:77024659-77024660	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs538106042	chr11:77024674-77024675	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs191321397	chr11:77024700-77024701	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs112029545	chr11:77024701-77024702	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs147195236	chr11:77024734-77024735	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs183182691	chr11:77024772-77024773	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs376795566	chr11:77024775-77024776	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs573835683	chr11:77024794-77024795	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs573502817	chr11:77024813-77024814	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs545266206	chr11:77024836-77024837	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs565612319	chr11:77024841-77024842	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs531120029	chr11:77024842-77024843	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs116254232	chr11:77024879-77024880	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs560572002	chr11:77024901-77024902	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs117908110	chr11:77024907-77024908	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs546318692	chr11:77024935-77024936	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs566226800	chr11:77024951-77024952	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs140574377	chr11:77025000-77025001	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Usher syndrome	18421352	CNVD
Ovarian cancer	21240255	CNVD
Ovarian cancer	22355333	CNVD
Breast cancer	20932292	CNVD
Cancer	20164920	CNVD
Ovarian cancer	20844748	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Breast cancer	17142309	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77015200-77027600	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr11:77020600-77024400	Weak transcription	HSMM	muscle
3	chr11:77020800-77032000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr11:77020800-77033200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr11:77021000-77024600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr11:77021000-77032600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr11:77022400-77032000	Weak transcription	Fetal Intestine Large	intestine
8	chr11:77023200-77024400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr11:77023400-77024400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:77023400-77024400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr11:77023400-77024600	Weak transcription	NHDF-Ad	bronchial
12	chr11:77024400-77024800	Enhancers	HSMM	muscle
13	chr11:77024400-77025000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr11:77024400-77025000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr11:77024400-77025000	Enhancers	NHLF	lung
16	chr11:77024400-77025400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr11:77024400-77025400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr11:77024600-77024800	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr11:77024600-77025000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr11:77024600-77025000	Enhancers	NH-A	brain
21	chr11:77024600-77025000	Enhancers	NHDF-Ad	bronchial
22	chr11:77024600-77025400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr11:77024800-77032000	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr11:77025000-77033000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr11:77025000-77033000	Weak transcription	HSMMtube	muscle
26	chr11:77025000-77033000	Weak transcription	NHLF	lung
27	chr11:77025000-77033200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr11:77025000-77033200	Weak transcription	NHDF-Ad	bronchial
29	chr11:77025000-77033400	Weak transcription	NH-A	brain
30	chr11:77025000-77034200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr11:77025400-77027600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr11:77025400-77033400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr11:77025400-77037600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr11:77026200-77027200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr11:77027000-77027600	Enhancers	Fetal Stomach	stomach
36	chr11:77027000-77028400	Enhancers	Fetal Lung	lung
37	chr11:77027200-77027400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr11:77027200-77029200	Enhancers	Ovary	ovary

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