Variant report

Variant	nsv963952
Chromosome Location	chr2:111883259-111893062
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:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:14)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:111883689..111885711-chr2:111904275..111906718,2	K562	blood:
2	chr2:111881798..111884548-chr3:37284411..37286120,2	MCF-7	breast:
3	chr2:111883516..111885711-chr2:111904275..111907579,3	K562	blood:
4	chr2:111883642..111885559-chr2:111913006..111915141,2	K562	blood:
5	chr2:111891793..111893976-chr2:111895224..111897547,2	K562	blood:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location
1	BCL2L11	hsa-miR-494-3p	chr2:111890856-111890862
2	BCL2L11	hsa-miR-10b-5p	chr2:111892138-111892145
3	BCL2L11	hsa-miR-24-3p	chr2:111888469-111888476
4	BCL2L11	hsa-miR-19a-3p	chr2:111892119-111892125
5	BCL2L11	hsa-miR-221-3p	chr2:111892079-111892086
6	BCL2L11	hsa-miR-25-3p	chr2:111890722-111890728
7	BCL2L11	hsa-miR-17-5p	chr2:111890026-111890033
8	BCL2L11	hsa-miR-25-3p	chr2:111892161-111892168
9	BCL2L11	hsa-miR-19b-3p	chr2:111892119-111892125
10	BCL2L11	hsa-miR-32-5p	chr2:111892161-111892168
11	BCL2L11	hsa-miR-17-5p	chr2:111892151-111892157
12	BCL2L11	hsa-miR-181a-5p	chr2:111888235-111888242
13	BCL2L11	hsa-miR-32-5p	chr2:111890722-111890728
14	BCL2L11	hsa-miR-24-3p	chr2:111890705-111890712

Variant related genes	Relation type
ENSG00000176354	chromatin interactions
ENSG00000144674	chromatin interactions
ENSG00000270194	chromatin interactions

Extended variants
information (count: 377 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:377 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6733986	chr2:111883295-111883296	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186981166	chr2:111883305-111883306	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs6754466	chr2:111883332-111883333	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs566104184	chr2:111883378-111883379	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs78307618	chr2:111883409-111883410	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs6734224	chr2:111883462-111883463	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs147906800	chr2:111883486-111883487	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs535833254	chr2:111883488-111883489	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs191891326	chr2:111883509-111883510	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs374195133	chr2:111883514-111883515	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs368275465	chr2:111883521-111883522	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs183287493	chr2:111883523-111883524	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs530637792	chr2:111883540-111883541	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs141514321	chr2:111883556-111883557	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs544358154	chr2:111883558-111883559	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs576263483	chr2:111883569-111883570	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs188328562	chr2:111883582-111883583	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs115365874	chr2:111883607-111883608	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs560907327	chr2:111883701-111883702	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs544656073	chr2:111883729-111883730	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs150409667	chr2:111883806-111883807	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs561360547	chr2:111883843-111883844	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs138635788	chr2:111883848-111883849	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs200789072	chr2:111883868-111883869	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs554068069	chr2:111883887-111883888	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs547111934	chr2:111883892-111883893	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs190139193	chr2:111883909-111883910	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs532853388	chr2:111883919-111883920	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs552564235	chr2:111883977-111883978	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs560510490	chr2:111884005-111884006	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs532507391	chr2:111884022-111884023	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs559522730	chr2:111884054-111884055	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs528620273	chr2:111884060-111884061	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs149334517	chr2:111884077-111884078	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs552599091	chr2:111884096-111884097	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs143000110	chr2:111884143-111884144	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs567018363	chr2:111884146-111884147	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs569506807	chr2:111884183-111884184	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs535896103	chr2:111884192-111884193	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs538072538	chr2:111884197-111884198	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs549734379	chr2:111884221-111884222	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs372034044	chr2:111884279-111884280	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs13421803	chr2:111884322-111884323	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs538928148	chr2:111884364-111884365	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs551221206	chr2:111884369-111884370	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs137973786	chr2:111884418-111884419	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs182398440	chr2:111884434-111884435	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs28587034	chr2:111884442-111884443	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs555130564	chr2:111884511-111884512	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs28414521	chr2:111884540-111884541	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	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
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

Chromatin state (count:410 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111881200-111883400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:111881200-111883600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:111881200-111883800	Weak transcription	NHDF-Ad	bronchial
4	chr2:111881200-111888400	Weak transcription	HUVEC	blood vessel
5	chr2:111881200-111890800	Weak transcription	Right Ventricle	heart
6	chr2:111881200-111893600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:111881200-111894800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:111881200-111904200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr2:111881200-111909600	Weak transcription	NHLF	lung
10	chr2:111881200-111912800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:111881400-111883400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:111881400-111886400	Weak transcription	Fetal Kidney	kidney
13	chr2:111881400-111891000	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:111881600-111883400	Strong transcription	Esophagus	oesophagus
15	chr2:111881600-111883600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:111881600-111884000	Genic enhancers	Liver	Liver
17	chr2:111881600-111884600	Genic enhancers	HepG2	liver
18	chr2:111881600-111885000	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr2:111881600-111885000	Strong transcription	Primary B cells from peripheral blood	blood
20	chr2:111881600-111887600	Strong transcription	Placenta	Placenta
21	chr2:111881600-111888200	Strong transcription	A549	lung
22	chr2:111881600-111888400	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr2:111881600-111888600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr2:111881600-111889800	Strong transcription	K562	blood
25	chr2:111881600-111893000	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr2:111881600-111893200	Weak transcription	Fetal Brain Female	brain
27	chr2:111881600-111897200	Weak transcription	Stomach Mucosa	stomach
28	chr2:111881600-111897400	Weak transcription	Stomach Smooth Muscle	stomach
29	chr2:111881600-111901000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr2:111881600-111904200	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr2:111881800-111883400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:111881800-111883400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
33	chr2:111881800-111883400	Genic enhancers	Fetal Intestine Small	intestine
34	chr2:111881800-111883400	Strong transcription	Fetal Muscle Leg	muscle
35	chr2:111881800-111883600	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:111881800-111883600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
37	chr2:111881800-111883600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr2:111881800-111883600	Strong transcription	Adipose Nuclei	Adipose
39	chr2:111881800-111883600	Weak transcription	Rectal Smooth Muscle	rectum
40	chr2:111881800-111883800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr2:111881800-111883800	Strong transcription	Skeletal Muscle Male	skeletal muscle
42	chr2:111881800-111883800	Strong transcription	HMEC	breast
43	chr2:111881800-111884200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr2:111881800-111885000	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr2:111881800-111885200	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr2:111881800-111885200	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:111881800-111885400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr2:111881800-111885400	Genic enhancers	Fetal Lung	lung
49	chr2:111881800-111886600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr2:111881800-111886800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links