Variant report

Variant	nsv508622
Chromosome Location	chr11:34350559-34363184
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:211)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:211 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:34360799-34361380	HepG2	liver:	n/a	n/a
2	ARID3A	chr11:34354251-34354423	HepG2	liver:	n/a	n/a
3	BATF	chr11:34356950-34357188	GM12878	blood:	n/a	n/a
4	BCL11A	chr11:34360766-34361087	GM12878	blood:	n/a	n/a
5	BCL3	chr11:34360702-34361332	A549	lung:	n/a	n/a
6	BCL3	chr11:34360618-34361152	A549	lung:	n/a	n/a
7	BHLHE40	chr11:34360785-34361082	GM12878	blood:	n/a	n/a
8	BHLHE40	chr11:34357063-34357077	GM12878	blood:	n/a	n/a
9	CEBPB	chr11:34354170-34354480	HepG2	liver:	n/a	n/a
10	CEBPB	chr11:34354060-34354538	MCF-7	breast:	n/a	chr11:34354062-34354070
11	CEBPB	chr11:34360798-34361445	HepG2	liver:	n/a	chr11:34361370-34361383
12	CEBPB	chr11:34360816-34361282	HepG2	liver:	n/a	n/a
13	CEBPB	chr11:34360755-34361214	A549	lung:	n/a	n/a
14	CEBPB	chr11:34360863-34361379	A549	lung:	n/a	n/a
15	CEBPB	chr11:34360778-34361291	HepG2	liver:	n/a	n/a
16	CEBPB	chr11:34352805-34353030	A549	lung:	n/a	n/a
17	CEBPB	chr11:34360879-34361234	HepG2	liver:	n/a	n/a
18	CEBPB	chr11:34360601-34361582	A549	lung:	n/a	chr11:34361370-34361383
19	CEBPB	chr11:34354196-34354412	HepG2	liver:	n/a	n/a
20	CEBPD	chr11:34360862-34361160	HepG2	liver:	n/a	n/a
21	CEBPD	chr11:34360773-34361106	HepG2	liver:	n/a	n/a
22	CHD2	chr11:34360952-34360995	GM12878	blood:	n/a	n/a
23	CTCF	chr11:34353841-34353862	MCF-7	breast:	n/a	n/a
24	CTCF	chr11:34353760-34353910	GM12867	blood:	n/a	n/a
25	EBF1	chr11:34360839-34361077	GM12878	blood:	n/a	n/a
26	ELF1	chr11:34360887-34361346	HepG2	liver:	n/a	n/a
27	ELF1	chr11:34360927-34361262	HepG2	liver:	n/a	n/a
28	EP300	chr11:34352958-34353292	SK-N-SH_RA	brain:	n/a	n/a
29	EP300	chr11:34360785-34361168	GM12878	blood:	n/a	n/a
30	EP300	chr11:34360800-34361319	HepG2	liver:	n/a	n/a
31	EP300	chr11:34360754-34361107	GM12878	blood:	n/a	n/a
32	EP300	chr11:34360538-34361637	A549	lung:	n/a	n/a
33	EP300	chr11:34352953-34353326	SK-N-SH_RA	brain:	n/a	n/a
34	EP300	chr11:34360662-34361348	HepG2	liver:	n/a	n/a
35	EP300	chr11:34360619-34361380	A549	lung:	n/a	n/a
36	ESR1	chr11:34353915-34354238	T-47D	breast:	n/a	n/a
37	ESR1	chr11:34353957-34354318	T-47D	breast:	n/a	n/a
38	FOS	chr11:34352945-34353203	MCF10A-Er-Src	breast:	n/a	n/a
39	FOS	chr11:34352970-34353250	MCF10A-Er-Src	breast:	n/a	n/a
40	FOS	chr11:34361231-34361337	MCF10A-Er-Src	breast:	n/a	n/a
41	FOS	chr11:34353474-34353522	MCF10A-Er-Src	breast:	n/a	chr11:34353491-34353500 chr11:34353490-34353501
42	FOSL2	chr11:34360681-34361494	A549	lung:	n/a	n/a
43	FOSL2	chr11:34352846-34353849	A549	lung:	n/a	chr11:34353491-34353500 chr11:34353490-34353501
44	FOSL2	chr11:34353326-34353683	A549	lung:	n/a	chr11:34353491-34353500 chr11:34353490-34353501
45	FOXA1	chr11:34353979-34354521	HepG2	liver:	n/a	n/a
46	FOXA1	chr11:34353946-34354511	HepG2	liver:	n/a	n/a
47	FOXA1	chr11:34353954-34354583	HepG2	liver:	n/a	n/a
48	FOXA1	chr11:34360714-34361397	HepG2	liver:	n/a	chr11:34360969-34360981
49	FOXA1	chr11:34360777-34361310	HepG2	liver:	n/a	chr11:34360969-34360981
50	FOXA1	chr11:34360696-34361227	HepG2	liver:	n/a	chr11:34360969-34360981

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:34351980..34355833-chr11:34364485..34369065,5	MCF-7	breast:
2	chr11:34355811..34357452-chr2:150425166..150428140,2	MCF-7	breast:
3	chr11:34342106..34344369-chr11:34352747..34354682,2	MCF-7	breast:
4	chr11:34352862..34355628-chr11:34375081..34377214,3	MCF-7	breast:
5	chr11:34359062..34360575-chr11:34363505..34365400,2	K562	blood:
6	chr11:34360672..34363341-chr11:34364599..34366363,2	MCF-7	breast:
7	chr11:34351992..34353875-chr11:34377639..34379181,2	K562	blood:
8	chr11:34355881..34357405-chr11:34377227..34379033,2	MCF-7	breast:
9	chr11:34346331..34348538-chr11:34354788..34356481,2	MCF-7	breast:
10	chr11:34295678..34297424-chr11:34350802..34352838,2	MCF-7	breast:
11	chr11:34353541..34355614-chr11:34357152..34360138,2	MCF-7	breast:
12	chr11:34348938..34354072-chr11:34377839..34381430,6	MCF-7	breast:
13	chr11:34283475..34285529-chr11:34358260..34360841,2	MCF-7	breast:
14	chr11:34065587..34067431-chr11:34358883..34361873,2	K562	blood:
15	chr11:34295048..34297358-chr11:34352691..34354542,2	MCF-7	breast:
16	chr11:34345030..34348316-chr11:34348388..34351447,3	K562	blood:
17	chr11:34340006..34344767-chr11:34350658..34354959,5	MCF-7	breast:
18	chr11:34357216..34358836-chr11:34360327..34362099,2	K562	blood:
19	chr11:34355071..34356591-chr2:150426484..150429218,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ELF5-4	chr11:34356665-34357550	NONHSAT018749

No data

Variant related genes	Relation type
ENSG00000254708	TF binding region
ENSG00000254708	chromatin interactions
ENSG00000166016	chromatin interactions

Extended variants
information (count: 496 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:496 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139883438	chr11:34350585-34350586	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs572150246	chr11:34350601-34350602	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs182875696	chr11:34350691-34350692	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs554457910	chr11:34350710-34350711	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs554592937	chr11:34350711-34350712	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs145402103	chr11:34350719-34350720	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs574073756	chr11:34350835-34350836	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs151069732	chr11:34350882-34350883	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs543820812	chr11:34350885-34350886	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs141026906	chr11:34350891-34350892	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs150253432	chr11:34350916-34350917	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs545586013	chr11:34350927-34350928	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs559871645	chr11:34350946-34350947	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs528714154	chr11:34351064-34351065	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs577969160	chr11:34351094-34351095	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs145853172	chr11:34351122-34351123	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs188772948	chr11:34351123-34351124	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs548886868	chr11:34351136-34351137	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs568796874	chr11:34351140-34351141	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs193295289	chr11:34351173-34351174	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs373600930	chr11:34351268-34351269	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs140744192	chr11:34351278-34351279	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs202178744	chr11:34351368-34351369	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs368625688	chr11:34351444-34351445	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs114273925	chr11:34351470-34351471	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs553213521	chr11:34351494-34351495	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs565502444	chr11:34351514-34351515	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs534537515	chr11:34351565-34351566	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs183373474	chr11:34351608-34351609	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs574432888	chr11:34351630-34351631	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs188775872	chr11:34351636-34351637	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs192252915	chr11:34351645-34351646	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs184031651	chr11:34351674-34351675	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs116393020	chr11:34351682-34351683	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs559219885	chr11:34351721-34351722	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs563404009	chr11:34351781-34351782	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs542487233	chr11:34351917-34351918	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs142354103	chr11:34351930-34351931	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs531186991	chr11:34351982-34351983	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs550993923	chr11:34352004-34352005	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs116934547	chr11:34352026-34352027	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs533503886	chr11:34352044-34352045	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs143063969	chr11:34352052-34352053	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs148224353	chr11:34352067-34352068	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs534502278	chr11:34352074-34352075	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs188715149	chr11:34352144-34352145	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs12796736	chr11:34352147-34352148	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs537326721	chr11:34352180-34352181	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs549134517	chr11:34352182-34352183	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs563524395	chr11:34352227-34352228	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
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
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	21364760	CNVD
Aniridia syndrome	21572526	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Retinoblastoma	22278416	CNVD
Denys-drash syndrome	21085971	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
WAGR syndrome	16773131	CNVD
Disorders of sex development	22290220	CNVD
Aniridia syndrome	17204608	CNVD
Mental retardation	17204608	CNVD
WAGR syndrome	19617690	CNVD
genitourinary abnormalities	17204608	CNVD
Breast cancer	16397240	CNVD
Mental retardation	16773131	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Cancer	21183584	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
WAGR syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Denys-drash syndrome	19566914	CNVD
Familial wilms tumor	19566914	CNVD
Frasier syndrome	19566914	CNVD
Non-small cell lung cancer	21829676	CNVD
WAGR syndrome	20603712	CNVD
Autism	17322880	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Breast cancer	16620391	CNVD

Chromatin state (count:346 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34336200-34358200	Weak transcription	Thymus	Thymus
2	chr11:34339000-34357400	Weak transcription	Fetal Thymus	thymus
3	chr11:34340000-34353200	Weak transcription	Small Intestine	intestine
4	chr11:34340800-34352200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:34341000-34352400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:34341200-34352200	Weak transcription	HSMM	muscle
7	chr11:34343600-34350800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr11:34346600-34351000	Weak transcription	Aorta	Aorta
9	chr11:34346600-34353800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:34347000-34350800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr11:34347000-34355600	Weak transcription	GM12878-XiMat	blood
12	chr11:34347800-34354400	Enhancers	Fetal Stomach	stomach
13	chr11:34348000-34353200	Enhancers	Fetal Muscle Leg	muscle
14	chr11:34348400-34351200	Enhancers	Fetal Lung	lung
15	chr11:34348400-34351600	Enhancers	Right Ventricle	heart
16	chr11:34348400-34354400	Enhancers	Psoas Muscle	Psoas
17	chr11:34348600-34352800	Enhancers	Fetal Heart	heart
18	chr11:34348600-34353600	Enhancers	Colon Smooth Muscle	Colon
19	chr11:34348600-34353800	Enhancers	Rectal Smooth Muscle	rectum
20	chr11:34348800-34350600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr11:34348800-34351200	Enhancers	Brain Germinal Matrix	brain
22	chr11:34348800-34351800	Enhancers	HepG2	liver
23	chr11:34348800-34352000	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr11:34349000-34350800	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr11:34349000-34350800	Enhancers	Fetal Brain Male	brain
26	chr11:34349000-34351000	Enhancers	Brain Anterior Caudate	brain
27	chr11:34349000-34351600	Enhancers	Adipose Nuclei	Adipose
28	chr11:34349000-34352000	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr11:34349200-34351000	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr11:34349600-34352400	Weak transcription	Pancreas	Pancrea
31	chr11:34349600-34352600	Enhancers	A549	lung
32	chr11:34349800-34350800	Weak transcription	Right Atrium	heart
33	chr11:34349800-34351200	Enhancers	Brain Cingulate Gyrus	brain
34	chr11:34349800-34351600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr11:34349800-34352200	Weak transcription	HSMMtube	muscle
36	chr11:34349800-34353200	Enhancers	Stomach Smooth Muscle	stomach
37	chr11:34349800-34353600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr11:34350000-34350800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr11:34350000-34350800	Enhancers	Brain Hippocampus Middle	brain
40	chr11:34350000-34351000	Weak transcription	Lung	lung
41	chr11:34350200-34350600	Weak transcription	Placenta	Placenta
42	chr11:34350200-34350600	Weak transcription	Left Ventricle	heart
43	chr11:34350200-34351200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr11:34350200-34352400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr11:34350200-34352600	Weak transcription	Brain Substantia Nigra	brain
46	chr11:34350400-34350800	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr11:34350400-34351400	Weak transcription	Liver	Liver
48	chr11:34350600-34351000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr11:34350600-34351200	Enhancers	Placenta	Placenta
50	chr11:34350600-34351800	Enhancers	Left Ventricle	heart

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