Variant report

Variant	nsv525790
Chromosome Location	chr2:113479614-113481547
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:113480500-113480650	HCM	heart:	n/a	n/a
2	CTCF	chr2:113480400-113480550	HepG2	liver:	n/a	n/a
3	CTCF	chr2:113480391-113480593	K562	blood:	n/a	n/a
4	CTCF	chr2:113480500-113480650	GM12866	blood:	n/a	n/a
5	CTCF	chr2:113479880-113480030	GM12873	blood:	n/a	n/a
6	CTCF	chr2:113480420-113480570	GM12874	blood:	n/a	n/a
7	EGR1	chr2:113480775-113480982	K562	blood:	n/a	n/a
8	ELF1	chr2:113480331-113480583	K562	blood:	n/a	n/a
9	MAZ	chr2:113480522-113480621	K562	blood:	n/a	n/a
10	NR2F2	chr2:113480161-113480826	K562	blood:	n/a	n/a
11	ZNF263	chr2:113479758-113480168	HEK293-T-REx	kidney:	n/a	chr2:113479923-113479944
12	ZNF263	chr2:113479737-113480235	K562	blood:	n/a	chr2:113479923-113479944

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:113475474..113478098-chr2:113481097..113483249,3	MCF-7	breast:
2	chr2:113401788..113407326-chr2:113480776..113487899,15	MCF-7	breast:
3	chr2:113408007..113410255-chr2:113479531..113481072,2	K562	blood:
4	chr2:113478980..113481125-chr2:113482565..113484434,2	MCF-7	breast:
5	chr2:113380065..113382456-chr2:113480700..113483703,3	MCF-7	breast:
6	chr2:113298665..113301106-chr2:113481233..113484131,2	MCF-7	breast:
7	chr2:113340774..113345524-chr2:113480391..113485957,9	MCF-7	breast:
8	chr2:113480533..113482697-chr2:113482909..113484492,2	K562	blood:
9	chr2:113477140..113479132-chr2:113479406..113481880,2	K562	blood:
10	chr2:113401171..113414378-chr2:113468812..113486672,46	K562	blood:
11	chr2:113400575..113405879-chr2:113475243..113481233,15	K562	blood:
12	chr2:113399891..113407010-chr2:113481534..113486055,14	K562	blood:
13	chr2:113401688..113406035-chr2:113480430..113485744,11	MCF-7	breast:

No data

Variant related genes	Relation type
NT5DC4	TF binding region
ENSG00000125611	chromatin interactions
ENSG00000144136	chromatin interactions
ENSG00000237753	chromatin interactions
ENSG00000144130	chromatin interactions
ENSG00000125630	chromatin interactions

Extended variants
information (count: 108 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13386452	chr2:113479614-113479615	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs115950000	chr2:113479615-113479616	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs143072342	chr2:113479618-113479619	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs530304908	chr2:113479626-113479627	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs17042284	chr2:113479635-113479636	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs188470836	chr2:113479636-113479637	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs115389629	chr2:113479660-113479661	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs552265895	chr2:113479704-113479705	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs560140238	chr2:113479709-113479710	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs373627374	chr2:113479731-113479732	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs564023581	chr2:113479738-113479739	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs34781106	chr2:113479746-113479747	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs398080509	chr2:113479750-113479751	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs397985492	chr2:113479751-113479752	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs534734511	chr2:113479752-113479753	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs554021073	chr2:113479761-113479762	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs549791452	chr2:113479783-113479784	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs375712449	chr2:113479793-113479794	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs536449983	chr2:113479810-113479811	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs6739194	chr2:113479832-113479833	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs556349401	chr2:113479846-113479847	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs576313604	chr2:113479853-113479854	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs192284236	chr2:113479874-113479875	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs558391844	chr2:113479915-113479916	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs58104107	chr2:113479926-113479927	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs540710034	chr2:113479928-113479929	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs561621348	chr2:113479945-113479946	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs146139372	chr2:113479966-113479967	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs543714917	chr2:113479983-113479984	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs563502849	chr2:113480059-113480060	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs532587640	chr2:113480095-113480096	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs529013872	chr2:113480120-113480121	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs368575100	chr2:113480175-113480176	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs184863339	chr2:113480194-113480195	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs528478878	chr2:113480208-113480209	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs549140392	chr2:113480230-113480231	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs112525362	chr2:113480233-113480234	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs532996918	chr2:113480240-113480241	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs188055009	chr2:113480276-113480277	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs556514061	chr2:113480309-113480310	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs61743392	chr2:113480320-113480321	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs200622742	chr2:113480338-113480339	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs77260136	chr2:113480339-113480340	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs558609058	chr2:113480352-113480353	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs74876413	chr2:113480353-113480354	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs191415709	chr2:113480359-113480360	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs554226607	chr2:113480363-113480364	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs574108250	chr2:113480375-113480376	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs543677124	chr2:113480376-113480377	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs551470039	chr2:113480379-113480380	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Astrocytoma	22246337	CNVD
Myelofibrosis	22110671	CNVD
Ocular motor apraxia	21572526	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Idiopathic chronic pancreatitis	21549014	CNVD
Mental retardation	21549014	CNVD
Maculopathy	20981449	CNVD
Nephronophthisis	22470819	CNVD
Colorectal cancer	16912164	CNVD
Ischaemic stroke	16980335	CNVD
Acute myeloid leukemia	18000384	CNVD
Nephronophthisis	17901113	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113464200-113486400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr2:113469400-113484200	Weak transcription	Right Atrium	heart
3	chr2:113472400-113483000	Weak transcription	Spleen	Spleen
4	chr2:113475600-113481800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr2:113477600-113487000	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr2:113478200-113481800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr2:113478400-113481800	Weak transcription	Placenta	Placenta
8	chr2:113478400-113483800	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr2:113478600-113488200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:113478800-113481000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:113479000-113482200	Weak transcription	Primary B cells from peripheral blood	blood
12	chr2:113479200-113481200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr2:113479400-113480000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:113479400-113482200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:113479400-113485200	Enhancers	K562	blood
16	chr2:113479600-113480000	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr2:113480000-113481600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:113480000-113488200	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr2:113480200-113480600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:113480600-113481000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr2:113480600-113482000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:113481000-113481200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr2:113481000-113482000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:113481200-113481800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:113481200-113487600	Enhancers	Primary hematopoietic stem cells short term culture	blood

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