Variant report

Variant	nsv527708
Chromosome Location	chr11:76359722-76363817
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:62)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CUX1	chr11:76363696-76363699	K562	blood:	n/a	n/a
2	POLR2A	chr11:76362462-76362552	HUVEC	blood vessel:	n/a	n/a

(count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:76363709-76363759	NHBE	bronchial:	n/a
2	chr11:76363709-76363759	NHBE	bronchial:	n/a
3	chr11:76363709-76363759	RPTEC	kidney:	n/a
4	chr11:76363709-76363759	PrEC	prostate:	n/a
5	chr11:76363709-76363759	T-47D	breast:	n/a
6	chr11:76363709-76363759	HEK293	kidney:	embryo
7	chr11:76363709-76363759	NHDF-neo	bronchial:	n/a
8	chr11:76363709-76363759	ovcar-3	ovarian:	n/a
9	chr11:76363709-76363759	A549	lung:	n/a
10	chr11:76363709-76363759	BE2_C	brain:	n/a
11	chr11:76363709-76363759	HIPEpiC	eye:	n/a
12	chr11:76363709-76363759	K562	blood:	n/a
13	chr11:76363709-76363759	HL-60	blood:	n/a
14	chr11:76363709-76363759	GM12878	blood:	n/a
15	chr11:76363709-76363759	AG09319	gingival:	n/a
16	chr11:76363709-76363759	AG09309	skin:	n/a
17	chr11:76363709-76363759	MCF10A-Er-Src	breast:	n/a
18	chr11:76363709-76363759	HRE	kidney:	n/a
19	chr11:76363709-76363759	MCF-7	breast:	n/a
20	chr11:76363709-76363759	IMR90	lung:	fetal
21	chr11:76363709-76363759	NB4	blood:	n/a
22	chr11:76363709-76363759	GM19239	blood:	n/a
23	chr11:76363709-76363759	SK-N-SH	brain:	n/a
24	chr11:76363709-76363759	H1-hESC	embryonic stem cell:	embryo
25	chr11:76363709-76363759	Hepatocyte	liver:	n/a
26	chr11:76363709-76363759	LNCaP	prostate:	n/a
27	chr11:76363709-76363759	Jurkat	blood:	n/a
28	chr11:76363709-76363759	HCM	heart:	n/a
29	chr11:76363709-76363759	BJ	skin:	n/a
30	chr11:76363709-76363759	ProgFib	skin:	n/a
31	chr11:76363709-76363759	HNPCEpiC	eye:	n/a
32	chr11:76363709-76363759	Hela-S3	cervix:	n/a
33	chr11:76363709-76363759	AG10803	skin:	n/a
34	chr11:76363709-76363759	HRPEpiC	eye:	n/a
35	chr11:76363709-76363759	HAEpiC	amniotic membrane:	n/a
36	chr11:76363709-76363759	GM12892	blood:	n/a
37	chr11:76363709-76363759	HCT-116	colon:	n/a
38	chr11:76363709-76363759	HCPEpiC	choroid plexus:	n/a
39	chr11:76363709-76363759	Caco-2	colon:	n/a
40	chr11:76363709-76363759	SK-N-SH_RA	brain:	n/a
41	chr11:76363709-76363759	SAEC	small airway:	n/a
42	chr11:76363709-76363759	AG04449	skin:	fetal
43	chr11:76363709-76363759	HUVEC	blood vessel:	n/a
44	chr11:76363709-76363759	AoSMC	blood vessel:	n/a
45	chr11:76363709-76363759	CMK	blood:	n/a
46	chr11:76363709-76363759	SKMC	muscle:	n/a
47	chr11:76363709-76363759	NH-A	brain:	n/a
48	chr11:76363709-76363759	HEEpiC	esophagus:	n/a
49	chr11:76363709-76363759	HRCEpiC	kidney:	n/a
50	chr11:76363709-76363759	SK-N-MC	brain:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr11:76357796..76360555-chr11:76361660..76365376,3	MCF-7	breast:
2	chr11:76357796..76360555-chr11:76361660..76365376,3	MCF-7	breast:
3	chr11:76341027..76343056-chr11:76363674..76366341,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000236304	TF binding region
ENSG00000236304	CpG island
ENSG00000255363	chromatin interactions

Extended variants
information (count: 181 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:181 , 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	rs1941603	chr11:76359722-76359723	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs576427136	chr11:76359747-76359748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556540503	chr11:76359784-76359785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs146905843	chr11:76359801-76359802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544630373	chr11:76359813-76359814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs11236827	chr11:76359837-76359838	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs6592654	chr11:76359922-76359923	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs10899248	chr11:76359949-76359950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376223987	chr11:76359956-76359957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs11600609	chr11:76359963-76359964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs75281974	chr11:76359997-76359998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562839998	chr11:76360021-76360022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528966244	chr11:76360025-76360026	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549100898	chr11:76360029-76360030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565824074	chr11:76360031-76360032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34060499	chr11:76360035-76360036	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs138614365	chr11:76360059-76360060	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551582666	chr11:76360060-76360061	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368319884	chr11:76360093-76360094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189725740	chr11:76360115-76360116	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142721827	chr11:76360167-76360168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182670840	chr11:76360211-76360212	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs569718035	chr11:76360217-76360218	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs6592655	chr11:76360222-76360223	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs79165895	chr11:76360230-76360231	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs572253290	chr11:76360235-76360236	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs35581503	chr11:76360306-76360307	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs147378459	chr11:76360338-76360339	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs575307210	chr11:76360339-76360340	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs558364390	chr11:76360346-76360347	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs188981878	chr11:76360374-76360375	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs11236828	chr11:76360404-76360405	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs148435956	chr11:76360419-76360420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs141725863	chr11:76360438-76360439	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542694291	chr11:76360500-76360501	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559470848	chr11:76360549-76360550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528232724	chr11:76360550-76360551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150552827	chr11:76360564-76360565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571443354	chr11:76360570-76360571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530669619	chr11:76360598-76360599	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11236829	chr11:76360603-76360604	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs139580107	chr11:76360670-76360671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535453902	chr11:76360685-76360686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530019694	chr11:76360713-76360714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143433203	chr11:76360759-76360760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs146758907	chr11:76360786-76360787	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535132881	chr11:76360794-76360795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558038688	chr11:76360803-76360804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs578124135	chr11:76360807-76360808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs193139399	chr11:76360827-76360828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Acute lymphoblastic leukemia	20067559	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
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Melanoma	18172304	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	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
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21482786	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	16608533	CNVD
Usher syndrome	18421352	CNVD
Ovarian cancer	21240255	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Ovarian cancer	22355333	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76350800-76365000	Weak transcription	Lung	lung
2	chr11:76359200-76364800	Weak transcription	Right Atrium	heart
3	chr11:76359400-76361600	Enhancers	Fetal Muscle Leg	muscle
4	chr11:76359600-76360800	Weak transcription	Aorta	Aorta
5	chr11:76359600-76360800	Weak transcription	Fetal Muscle Trunk	muscle
6	chr11:76359600-76360800	Weak transcription	Left Ventricle	heart
7	chr11:76359800-76360600	Enhancers	Fetal Stomach	stomach
8	chr11:76360000-76362400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr11:76360200-76360400	Bivalent Enhancer	HSMMtube	muscle
10	chr11:76360200-76361400	Enhancers	Fetal Lung	lung
11	chr11:76360200-76361800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr11:76360200-76361800	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr11:76360400-76361600	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr11:76360400-76362400	Enhancers	Adipose Nuclei	Adipose
15	chr11:76360600-76361200	Weak transcription	Fetal Stomach	stomach
16	chr11:76360800-76361000	Enhancers	Colonic Mucosa	Colon
17	chr11:76360800-76361400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr11:76360800-76361400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr11:76360800-76361400	Enhancers	Aorta	Aorta
20	chr11:76360800-76361400	Enhancers	Fetal Kidney	kidney
21	chr11:76360800-76361400	Enhancers	Fetal Muscle Trunk	muscle
22	chr11:76360800-76361400	Enhancers	Left Ventricle	heart
23	chr11:76360800-76361400	Enhancers	Right Ventricle	heart
24	chr11:76360800-76361400	Enhancers	Stomach Smooth Muscle	stomach
25	chr11:76360800-76361600	Enhancers	Ovary	ovary
26	chr11:76361000-76361200	Bivalent Enhancer	Fetal Intestine Small	intestine
27	chr11:76361000-76361400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr11:76361000-76361400	Bivalent Enhancer	NHLF	lung
29	chr11:76361200-76361400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr11:76361200-76361400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr11:76361200-76361400	Enhancers	Fetal Intestine Small	intestine
32	chr11:76361200-76361400	Enhancers	Fetal Stomach	stomach
33	chr11:76361200-76361400	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr11:76361200-76361400	Bivalent Enhancer	HSMMtube	muscle
35	chr11:76361200-76364200	Weak transcription	Colonic Mucosa	Colon
36	chr11:76361400-76361600	Enhancers	NHLF	lung
37	chr11:76361400-76363800	Weak transcription	Fetal Kidney	kidney
38	chr11:76361400-76363800	Weak transcription	Fetal Lung	lung
39	chr11:76361400-76363800	Weak transcription	Fetal Stomach	stomach
40	chr11:76361400-76364000	Weak transcription	Fetal Muscle Trunk	muscle
41	chr11:76361400-76364200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr11:76361400-76364200	Weak transcription	Fetal Intestine Small	intestine
43	chr11:76361400-76364400	Weak transcription	Aorta	Aorta
44	chr11:76361400-76364400	Weak transcription	Stomach Smooth Muscle	stomach
45	chr11:76361400-76364800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr11:76361400-76364800	Weak transcription	Left Ventricle	heart
47	chr11:76361400-76365200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr11:76361400-76365200	Weak transcription	Fetal Heart	heart
49	chr11:76361400-76365200	Weak transcription	Right Ventricle	heart
50	chr11:76361600-76364000	Weak transcription	NHLF	lung

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