Variant report

Variant	esv1010582
Chromosome Location	chr2:152692238-152701782
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:152695100..152696940-chr2:152696997..152699571,2	MCF-7	breast:
2	chr2:152683252..152686026-chr2:152693891..152695851,2	MCF-7	breast:
3	chr2:152683495..152685022-chr2:152693908..152696265,2	MCF-7	breast:
4	chr2:152694855..152696851-chr2:152699982..152702874,2	K562	blood:
5	chr2:152688578..152690368-chr2:152697278..152699911,2	K562	blood:
6	chr2:152695100..152696940-chr2:152696997..152699571,2	MCF-7	breast:
7	chr2:152684180..152686852-chr2:152690162..152693530,4	MCF-7	breast:
8	chr2:152694855..152696851-chr2:152699982..152702874,2	K562	blood:
9	chr2:152698336..152700141-chr2:152710558..152713505,2	MCF-7	breast:
10	chr2:152664790..152667573-chr2:152691084..152693387,2	MCF-7	breast:
11	chr2:152683973..152685963-chr2:152700586..152703533,2	MCF-7	breast:
12	chr2:152701172..152703460-chr2:152705027..152707300,2	MCF-7	breast:
13	chr2:152684800..152686685-chr2:152697189..152699258,3	K562	blood:
14	chr2:152699898..152701978-chr2:152703514..152705107,2	K562	blood:
15	chr2:152689042..152691234-chr2:152692225..152695696,3	K562	blood:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	CACNB4	hsa-miR-26b-5p	chr2:152692276-152692296
2	CACNB4	hsa-miR-26b-5p	chr2:152692282-152692275

Variant related genes	Relation type
ENSG00000162980	chromatin interactions

Extended variants
information (count: 283 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:283 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530217111	chr2:152692256-152692257	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs142046165	chr2:152692257-152692258	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs78798453	chr2:152692319-152692320	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs565063366	chr2:152692331-152692332	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs180968913	chr2:152692405-152692406	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs10497086	chr2:152692476-152692477	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs138740858	chr2:152692517-152692518	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs142676144	chr2:152692641-152692642	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs569271176	chr2:152692665-152692666	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs185672291	chr2:152692691-152692692	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs555075389	chr2:152692703-152692704	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs116457978	chr2:152692748-152692749	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs542832996	chr2:152692768-152692769	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs150720371	chr2:152692790-152692791	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs573044727	chr2:152692792-152692793	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs138327808	chr2:152692796-152692797	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs564862634	chr2:152692825-152692826	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs114659375	chr2:152692855-152692856	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs377506172	chr2:152692903-152692904	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs144329745	chr2:152692904-152692905	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs74894311	chr2:152692938-152692939	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs530277673	chr2:152692946-152692947	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs140144615	chr2:152692950-152692951	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs567063346	chr2:152693101-152693102	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs559343222	chr2:152693137-152693138	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs558272942	chr2:152693157-152693158	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs532807611	chr2:152693170-152693171	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs552314157	chr2:152693220-152693221	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs143821304	chr2:152693242-152693243	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs114341631	chr2:152693423-152693424	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs188719130	chr2:152693437-152693438	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs548234328	chr2:152693445-152693446	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs536451978	chr2:152693448-152693449	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs553090231	chr2:152693462-152693463	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs370681136	chr2:152693463-152693464	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs80306085	chr2:152693470-152693471	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs75648541	chr2:152693564-152693565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556633310	chr2:152693633-152693634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558558084	chr2:152693673-152693674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139629003	chr2:152693691-152693692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543801421	chr2:152693712-152693713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372743707	chr2:152693722-152693723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113319414	chr2:152693724-152693725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574152057	chr2:152693767-152693768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181447432	chr2:152693819-152693820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574694585	chr2:152693833-152693834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552281027	chr2:152693926-152693927	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs62174451	chr2:152693977-152693978	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs532572810	chr2:152693995-152693996	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs372274000	chr2:152694082-152694083	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:50)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	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
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	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
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19156171	CNVD
Acute myeloid leukemia	18000384	CNVD
Autism	20808228	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:136 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152685400-152697200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:152685600-152694600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:152685600-152695200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:152685600-152697600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:152685600-152699400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr2:152685600-152709600	Weak transcription	Fetal Brain Female	brain
7	chr2:152685800-152695200	Weak transcription	Brain Anterior Caudate	brain
8	chr2:152685800-152695600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr2:152685800-152697400	Weak transcription	Fetal Muscle Leg	muscle
10	chr2:152685800-152699200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr2:152685800-152699400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr2:152685800-152702200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr2:152687600-152696600	Weak transcription	Fetal Intestine Small	intestine
14	chr2:152688000-152697600	Weak transcription	HepG2	liver
15	chr2:152690000-152692400	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr2:152691600-152694400	Weak transcription	Brain Substantia Nigra	brain
17	chr2:152691800-152692400	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr2:152692000-152692400	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr2:152692000-152692400	Enhancers	Primary T cells from cord blood	blood
20	chr2:152692000-152692400	Enhancers	Primary hematopoietic stem cells	blood
21	chr2:152692000-152692400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:152692200-152692400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:152692200-152695400	Weak transcription	GM12878-XiMat	blood
24	chr2:152692400-152696400	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr2:152692400-152696600	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr2:152694400-152694600	Enhancers	Brain Substantia Nigra	brain
27	chr2:152694600-152698800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:152694600-152699400	Weak transcription	Brain Substantia Nigra	brain
29	chr2:152694800-152699200	Weak transcription	Brain Hippocampus Middle	brain
30	chr2:152695000-152732600	Weak transcription	Brain Angular Gyrus	brain
31	chr2:152695200-152696000	Strong transcription	Brain Anterior Caudate	brain
32	chr2:152695200-152698200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr2:152695400-152696600	Enhancers	GM12878-XiMat	blood
34	chr2:152695600-152695800	Enhancers	Esophagus	oesophagus
35	chr2:152695600-152698400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr2:152695600-152700400	Weak transcription	Fetal Brain Male	brain
37	chr2:152695800-152696200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr2:152695800-152701600	Weak transcription	Esophagus	oesophagus
39	chr2:152696000-152699200	Weak transcription	Brain Anterior Caudate	brain
40	chr2:152696200-152696600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr2:152696200-152699600	Weak transcription	Fetal Thymus	thymus
42	chr2:152696400-152698000	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr2:152696600-152696800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr2:152696600-152696800	Enhancers	Fetal Intestine Small	intestine
45	chr2:152696600-152697800	Flanking Active TSS	GM12878-XiMat	blood
46	chr2:152696600-152698200	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr2:152696800-152697200	Weak transcription	Fetal Intestine Small	intestine
48	chr2:152696800-152697400	Enhancers	Primary B cells from peripheral blood	blood
49	chr2:152696800-152697600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr2:152696800-152697600	Enhancers	Brain Germinal Matrix	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links