Variant report

Variant	nsv396
Chromosome Location	chr11:76670116-76702745
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:125)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:125 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:76673985-76674672	HepG2	liver:	n/a	n/a
2	ATF1	chr11:76698288-76698423	K562	blood:	n/a	n/a
3	BHLHE40	chr11:76674211-76674319	GM12878	blood:	n/a	n/a
4	CBX3	chr11:76689231-76689598	K562	blood:	n/a	n/a
5	CBX3	chr11:76683051-76683513	HCT-116	colon:	n/a	n/a
6	CEBPB	chr11:76684751-76684965	K562	blood:	n/a	n/a
7	CEBPD	chr11:76673965-76674262	HepG2	liver:	n/a	n/a
8	CHD1	chr11:76681188-76681323	GM12878	blood:	n/a	n/a
9	CTCF	chr11:76671860-76672010	Caco-2	colon:	n/a	n/a
10	CTCF	chr11:76685289-76685392	MCF-7	breast:	n/a	n/a
11	CTCF	chr11:76685322-76685471	Pancreas_OC	pancreas:	n/a	n/a
12	CTCF	chr11:76684499-76684553	Fibrobl	skin:	n/a	n/a
13	CTCF	chr11:76685351-76685417	Hela-S3	cervix:	n/a	n/a
14	CTCF	chr11:76685460-76685610	HMEC	breast:	n/a	n/a
15	CTCF	chr11:76683700-76683850	HepG2	liver:	n/a	chr11:76683828-76683838
16	E2F4	chr11:76682707-76682759	MCF10A-Er-Src	breast:	n/a	n/a
17	E2F4	chr11:76685046-76685172	MCF10A-Er-Src	breast:	n/a	n/a
18	ELF1	chr11:76673960-76674413	HepG2	liver:	n/a	n/a
19	ELF1	chr11:76695803-76696213	MCF-7	breast:	n/a	n/a
20	ELF1	chr11:76674055-76674370	HepG2	liver:	n/a	n/a
21	EP300	chr11:76674113-76674347	GM12878	blood:	n/a	n/a
22	EP300	chr11:76673899-76674555	HepG2	liver:	n/a	n/a
23	EP300	chr11:76674084-76674415	HepG2	liver:	n/a	n/a
24	EP300	chr11:76698234-76698549	K562	blood:	n/a	n/a
25	EP300	chr11:76673850-76674482	HepG2	liver:	n/a	n/a
26	FOS	chr11:76686596-76686864	MCF10A-Er-Src	breast:	n/a	chr11:76686756-76686764
27	FOSL2	chr11:76673961-76674364	HepG2	liver:	n/a	n/a
28	FOSL2	chr11:76673991-76674386	HepG2	liver:	n/a	n/a
29	FOXA1	chr11:76698729-76699082	HepG2	liver:	n/a	n/a
30	FOXA1	chr11:76673966-76674734	HepG2	liver:	n/a	n/a
31	FOXA1	chr11:76673920-76674714	HepG2	liver:	n/a	n/a
32	FOXA1	chr11:76698704-76699067	HepG2	liver:	n/a	n/a
33	FOXA1	chr11:76698825-76699151	HepG2	liver:	n/a	n/a
34	FOXA1	chr11:76673906-76674689	HepG2	liver:	n/a	n/a
35	FOXA1	chr11:76698795-76699180	HepG2	liver:	n/a	n/a
36	FOXA1	chr11:76673864-76674565	HepG2	liver:	n/a	n/a
37	FOXA2	chr11:76673955-76674693	HepG2	liver:	n/a	n/a
38	FOXA2	chr11:76673840-76674809	HepG2	liver:	n/a	n/a
39	FOXA2	chr11:76675184-76675558	A549	lung:	n/a	n/a
40	FOXA2	chr11:76698803-76699046	HepG2	liver:	n/a	n/a
41	GATA2	chr11:76698228-76698621	K562	blood:	n/a	n/a
42	GATA3	chr11:76673855-76674344	MCF-7	breast:	n/a	chr11:76674112-76674120
43	GATA3	chr11:76673936-76674299	T-47D	breast:	n/a	chr11:76674112-76674120
44	GATA3	chr11:76673753-76674450	MCF-7	breast:	n/a	chr11:76674112-76674120
45	HDAC2	chr11:76673881-76674484	HepG2	liver:	n/a	n/a
46	HDAC2	chr11:76673825-76674453	HepG2	liver:	n/a	n/a
47	HNF4A	chr11:76673973-76674381	HepG2	liver:	n/a	n/a
48	HNF4A	chr11:76673971-76674364	HepG2	liver:	n/a	n/a
49	HNF4G	chr11:76673956-76674387	HepG2	liver:	n/a	n/a
50	HNF4G	chr11:76673946-76674420	HepG2	liver:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:76686294..76687888-chr11:76690773..76692768,2	K562	blood:
2	chr11:76691341..76694336-chr11:76696975..76699945,2	K562	blood:
3	chr11:76684953..76685685-chr11:76756997..76757683,2	MCF-7	breast:
4	chr11:76666896..76668570-chr11:76671083..76673989,2	K562	blood:
5	chr11:76686294..76687888-chr11:76690773..76692768,2	K562	blood:
6	chr11:76693879..76696563-chr11:76699673..76701721,2	MCF-7	breast:
7	chr11:76693879..76696563-chr11:76699673..76701721,2	MCF-7	breast:
8	chr11:76691341..76694336-chr11:76696975..76699945,2	K562	blood:
9	chr11:76691402..76695270-chr11:76696975..76699875,3	K562	blood:
10	chr11:76699145..76701750-chr11:76703493..76705984,2	K562	blood:
11	chr11:76691402..76695270-chr11:76696975..76699875,3	K562	blood:
12	chr11:76684575..76686730-chr11:76722373..76724667,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GDPD4-2	chr11:76689445-76689663	ENSG00000254988.1

No data

Variant related genes	Relation type
ACER3	TF binding region
ENSG00000254988	TF binding region
ENSG00000078124	chromatin interactions

Extended variants
information (count: 1142 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:1142 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142135871	chr11:76670116-76670117	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548977140	chr11:76670129-76670130	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537309536	chr11:76670268-76670269	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560082981	chr11:76670269-76670270	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528601406	chr11:76670271-76670272	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551928333	chr11:76670275-76670276	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11237033	chr11:76670281-76670282	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs567579035	chr11:76670302-76670303	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537737531	chr11:76670303-76670304	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551339057	chr11:76670317-76670318	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567963089	chr11:76670370-76670371	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs527691104	chr11:76670419-76670420	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536213550	chr11:76670457-76670458	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553019749	chr11:76670481-76670482	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs117713275	chr11:76670500-76670501	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11237034	chr11:76670501-76670502	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs151171918	chr11:76670512-76670513	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11237035	chr11:76670533-76670534	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs544399376	chr11:76670571-76670572	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529072683	chr11:76670618-76670619	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10899333	chr11:76670619-76670620	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs200700771	chr11:76670684-76670685	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542586273	chr11:76670731-76670732	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559352103	chr11:76670786-76670787	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182187827	chr11:76670840-76670841	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376195253	chr11:76670853-76670854	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187913512	chr11:76670888-76670889	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530961056	chr11:76670893-76670894	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs193069057	chr11:76670905-76670906	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35485893	chr11:76670911-76670912	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111455031	chr11:76670927-76670928	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536966764	chr11:76670966-76670967	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201853090	chr11:76671027-76671028	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546605275	chr11:76671140-76671141	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566386674	chr11:76671171-76671172	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538724668	chr11:76671181-76671182	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558322473	chr11:76671207-76671208	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575310640	chr11:76671208-76671209	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539510648	chr11:76671226-76671227	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537617609	chr11:76671242-76671243	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12272376	chr11:76671259-76671260	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554367830	chr11:76671274-76671275	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185395104	chr11:76671287-76671288	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112196960	chr11:76671291-76671292	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540168030	chr11:76671336-76671337	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188263868	chr11:76671410-76671411	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566434196	chr11:76671515-76671516	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs6592686	chr11:76671517-76671518	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs6592687	chr11:76671519-76671520	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs531049961	chr11:76671552-76671553	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
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
Ovarian cancer	22355333	CNVD
Breast cancer	20932292	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20164920	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Acute lymphoblastic leukemia	17690704	CNVD

Chromatin state (count:578 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76631400-76688400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:76631600-76670200	Weak transcription	Left Ventricle	heart
3	chr11:76631600-76671600	Weak transcription	Ovary	ovary
4	chr11:76645800-76683800	Weak transcription	Esophagus	oesophagus
5	chr11:76646200-76670600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr11:76646600-76688000	Weak transcription	HMEC	breast
7	chr11:76647000-76670200	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr11:76647200-76671600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr11:76647200-76673800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr11:76647200-76674800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr11:76648400-76671600	Weak transcription	Spleen	Spleen
12	chr11:76649600-76672000	Weak transcription	Aorta	Aorta
13	chr11:76650600-76681200	Weak transcription	Brain Substantia Nigra	brain
14	chr11:76655800-76671600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr11:76655800-76674200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr11:76655800-76681800	Weak transcription	Primary B cells from cord blood	blood
17	chr11:76656200-76677000	Weak transcription	Brain Anterior Caudate	brain
18	chr11:76656400-76671200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr11:76657000-76670200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr11:76657000-76674600	Weak transcription	Fetal Stomach	stomach
21	chr11:76657000-76676600	Weak transcription	Primary B cells from peripheral blood	blood
22	chr11:76657200-76688400	Weak transcription	Gastric	stomach
23	chr11:76657400-76670200	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr11:76657600-76671600	Weak transcription	Lung	lung
25	chr11:76657600-76672600	Weak transcription	Brain Germinal Matrix	brain
26	chr11:76659600-76673600	Weak transcription	Small Intestine	intestine
27	chr11:76659800-76673400	Weak transcription	Duodenum Mucosa	Duodenum
28	chr11:76659800-76673600	Weak transcription	Primary T cells from cord blood	blood
29	chr11:76660000-76710800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr11:76660200-76672800	Weak transcription	Fetal Intestine Small	intestine
31	chr11:76661200-76673800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr11:76661200-76674600	Weak transcription	Brain Cingulate Gyrus	brain
33	chr11:76661800-76673400	Weak transcription	Pancreas	Pancrea
34	chr11:76662000-76671400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr11:76662800-76673600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr11:76663000-76671600	Weak transcription	Brain Hippocampus Middle	brain
37	chr11:76663000-76674600	Weak transcription	Liver	Liver
38	chr11:76664200-76673200	Weak transcription	Fetal Intestine Large	intestine
39	chr11:76665200-76673400	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr11:76665800-76688400	Weak transcription	Right Ventricle	heart
41	chr11:76666800-76671600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr11:76666800-76671600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr11:76666800-76673600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr11:76666800-76677600	Weak transcription	Hela-S3	cervix
45	chr11:76666800-76695400	Weak transcription	NHEK	skin
46	chr11:76667400-76673800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr11:76667600-76673400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr11:76667800-76673800	Weak transcription	Brain Angular Gyrus	brain
49	chr11:76667800-76674400	Weak transcription	Fetal Muscle Leg	muscle
50	chr11:76668400-76673400	Weak transcription	Dnd41	blood

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