Variant report

Variant	nsv979293
Chromosome Location	chr2:111904685-111907418
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:11)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:111883689..111885711-chr2:111904275..111906718,2	K562	blood:
2	chr2:111903779..111906604-chr20:277057..278802,2	MCF-7	breast:
3	chr2:111905205..111907171-chr2:111918742..111920245,2	K562	blood:
4	chr2:111899502..111902225-chr2:111904953..111907338,3	K562	blood:
5	chr2:111905205..111908035-chr2:111918742..111922228,4	K562	blood:
6	chr2:111906009..111907724-chr2:111911641..111914017,2	K562	blood:
7	chr2:111877202..111881841-chr2:111904437..111911865,11	K562	blood:
8	chr2:111906145..111907968-chr2:111923810..111926255,2	K562	blood:
9	chr2:111883516..111885711-chr2:111904275..111907579,3	K562	blood:
10	chr2:111904094..111906094-chr2:111907490..111909411,2	K562	blood:
11	chr2:111905324..111908046-chr2:111920728..111922506,2	K562	blood:
12	chr2:111899587..111902225-chr2:111905266..111907338,2	K562	blood:
13	chr2:111878264..111880787-chr2:111902192..111905054,2	K562	blood:
14	chr2:111878105..111879961-chr2:111906068..111908109,2	K562	blood:

No data

(count:11 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	BCL2L11	hsa-miR-32-5p	chr2:111906434-111906441
2	BCL2L11	hsa-miR-32-5p	chr2:111904995-111905001
3	BCL2L11	hsa-miR-10b-5p	chr2:111906411-111906418
4	BCL2L11	hsa-miR-221-3p	chr2:111906352-111906359
5	BCL2L11	hsa-miR-25-3p	chr2:111906434-111906441
6	BCL2L11	hsa-miR-19a-3p	chr2:111906392-111906398
7	BCL2L11	hsa-miR-494-3p	chr2:111905129-111905135
8	BCL2L11	hsa-miR-17-5p	chr2:111906424-111906430
9	BCL2L11	hsa-miR-25-3p	chr2:111904995-111905001
10	BCL2L11	hsa-miR-24-3p	chr2:111904978-111904985
11	BCL2L11	hsa-miR-19b-3p	chr2:111906392-111906398

Variant related genes	Relation type
ENSG00000177764	chromatin interactions
ENSG00000153094	chromatin interactions
ENSG00000247315	chromatin interactions

Extended variants
information (count: 100 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191335901	chr2:111904705-111904706	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs558496174	chr2:111904713-111904714	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs182660586	chr2:111904754-111904755	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs539047321	chr2:111904850-111904851	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs367737247	chr2:111904904-111904905	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs371510696	chr2:111904905-111904906	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs186986028	chr2:111904911-111904912	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs6720193	chr2:111904923-111904924	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs546316802	chr2:111904924-111904925	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs650094	chr2:111904925-111904926	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs62163313	chr2:111904927-111904928	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs62163314	chr2:111904929-111904930	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs70962921	chr2:111904963-111904964	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs201059790	chr2:111904967-111904968	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs535320553	chr2:111904971-111904972	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs555153566	chr2:111905040-111905041	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs78877427	chr2:111905047-111905048	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs12997643	chr2:111905101-111905102	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs576926949	chr2:111905115-111905116	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs545210835	chr2:111905128-111905129	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs142644532	chr2:111905159-111905160	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs570992461	chr2:111905185-111905186	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs13428866	chr2:111905210-111905211	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs114967027	chr2:111905350-111905351	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs377662262	chr2:111905357-111905358	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs201487484	chr2:111905359-111905360	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs529622588	chr2:111905414-111905415	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs151012305	chr2:111905498-111905499	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs543332928	chr2:111905546-111905547	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs371045681	chr2:111905572-111905573	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs144435266	chr2:111905591-111905592	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs73954961	chr2:111905650-111905651	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs564044077	chr2:111905712-111905713	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs560207300	chr2:111905766-111905767	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs546193241	chr2:111905803-111905804	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs566092488	chr2:111905808-111905809	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs536725955	chr2:111905864-111905865	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs535403315	chr2:111905897-111905898	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs376049644	chr2:111905908-111905909	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs548865879	chr2:111905915-111905916	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs569066224	chr2:111905916-111905917	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs556587113	chr2:111905950-111905951	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs557903876	chr2:111905951-111905952	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs578034170	chr2:111906047-111906048	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs534243036	chr2:111906054-111906055	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs17041876	chr2:111906127-111906128	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs13020669	chr2:111906139-111906140	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs72948346	chr2:111906170-111906171	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs563024610	chr2:111906266-111906267	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs576642821	chr2:111906277-111906278	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Ovarian cancer	21781307	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
Schizophrenia	23813976	CNVD
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:205 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111881200-111909600	Weak transcription	NHLF	lung
2	chr2:111881200-111912800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:111881800-111908600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr2:111881800-111909600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr2:111881800-111919800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr2:111883400-111907800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr2:111883400-111909400	Weak transcription	Aorta	Aorta
8	chr2:111883400-111912600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr2:111883600-111909400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr2:111883600-111909600	Weak transcription	Small Intestine	intestine
11	chr2:111884600-111909400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr2:111884800-111925400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr2:111887400-111912000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:111890600-111914400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr2:111891400-111905800	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr2:111893400-111906000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:111893600-111905600	Weak transcription	Fetal Heart	heart
18	chr2:111893600-111909200	Weak transcription	Brain Substantia Nigra	brain
19	chr2:111893600-111913400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:111893600-111916800	Weak transcription	HSMM	muscle
21	chr2:111893600-111918600	Weak transcription	Colon Smooth Muscle	Colon
22	chr2:111893800-111905600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr2:111893800-111908400	Weak transcription	Spleen	Spleen
24	chr2:111894000-111908200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr2:111894200-111917200	Weak transcription	NH-A	brain
26	chr2:111894400-111909600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr2:111895000-111908000	Weak transcription	Ovary	ovary
28	chr2:111895000-111912800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr2:111895200-111908000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr2:111895400-111909600	Weak transcription	Brain Hippocampus Middle	brain
31	chr2:111896600-111908800	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr2:111897600-111905400	Weak transcription	Adipose Nuclei	Adipose
33	chr2:111897600-111905800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:111897600-111912800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr2:111897600-111913000	Weak transcription	Stomach Mucosa	stomach
36	chr2:111897800-111905600	Weak transcription	Left Ventricle	heart
37	chr2:111897800-111908000	Weak transcription	Fetal Muscle Trunk	muscle
38	chr2:111897800-111908000	Weak transcription	Gastric	stomach
39	chr2:111897800-111909000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:111897800-111909000	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr2:111897800-111909200	Weak transcription	Esophagus	oesophagus
42	chr2:111897800-111909600	Weak transcription	Pancreas	Pancrea
43	chr2:111897800-111910000	Weak transcription	Stomach Smooth Muscle	stomach
44	chr2:111897800-111910600	Strong transcription	HepG2	liver
45	chr2:111897800-111912400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr2:111897800-111912600	Weak transcription	Brain Anterior Caudate	brain
47	chr2:111897800-111916600	Weak transcription	Psoas Muscle	Psoas
48	chr2:111898000-111911400	Strong transcription	Liver	Liver
49	chr2:111898200-111906200	Weak transcription	Right Ventricle	heart
50	chr2:111898200-111909400	Weak transcription	Fetal Muscle Leg	muscle

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