Variant report

Variant	nsv963755
Chromosome Location	chr2:187372807-187374115
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:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:187372828..187374469-chr2:187377188..187379476,2	K562	blood:
2	chr2:187370485..187373217-chr2:187453776..187456177,3	MCF-7	breast:
3	chr2:187370609..187373386-chr2:187454442..187456199,2	MCF-7	breast:

No data

(count:3 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	ZC3H15	hsa-miR-186-5p	chr2:187374020-187374041
2	ZC3H15	hsa-miR-186-5p	chr2:187373959-187373980
3	ZC3H15	hsa-miR-96-5p	chr2:187374027-187374049

Variant related genes	Relation type
ENSG00000138448	chromatin interactions

Extended variants
information (count: 48 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375215066	chr2:187372895-187372896	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs190814691	chr2:187372904-187372905	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs564989401	chr2:187372920-187372921	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs183234588	chr2:187373004-187373005	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs11903027	chr2:187373054-187373055	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs559898456	chr2:187373076-187373077	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs55633652	chr2:187373080-187373081	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs7558856	chr2:187373146-187373147	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs567162422	chr2:187373178-187373179	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs531292846	chr2:187373188-187373189	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs144269650	chr2:187373198-187373199	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs369932102	chr2:187373241-187373242	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs538723504	chr2:187373242-187373243	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs554436445	chr2:187373253-187373254	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs200049298	chr2:187373318-187373319	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs566274648	chr2:187373340-187373341	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs199796169	chr2:187373341-187373342	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs375616861	chr2:187373369-187373370	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs200450618	chr2:187373377-187373378	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs199634188	chr2:187373400-187373401	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs1043497	chr2:187373401-187373402	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372792503	chr2:187373413-187373414	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376088217	chr2:187373433-187373434	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188110681	chr2:187373436-187373437	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368934202	chr2:187373439-187373440	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372530132	chr2:187373473-187373474	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376346742	chr2:187373492-187373493	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190945914	chr2:187373501-187373502	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182654681	chr2:187373534-187373535	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187614814	chr2:187373547-187373548	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148746734	chr2:187373577-187373578	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527443861	chr2:187373581-187373582	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192536764	chr2:187373605-187373606	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs16827948	chr2:187373723-187373724	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs531226184	chr2:187373745-187373746	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549837177	chr2:187373754-187373755	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111489577	chr2:187373854-187373855	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184183195	chr2:187373857-187373858	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140181657	chr2:187373861-187373862	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187360153	chr2:187373912-187373913	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145698165	chr2:187373930-187373931	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542712582	chr2:187373934-187373935	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536806020	chr2:187373935-187373936	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548622587	chr2:187373967-187373968	Strong transcription Weak transcription	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
45	rs71658012	chr2:187373977-187373978	Strong transcription Weak transcription	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
46	rs570295189	chr2:187374037-187374038	Strong transcription Weak transcription	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
47	rs561001808	chr2:187374114-187374115	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs151083946	chr2:187374115-187374116	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	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
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:148 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187357000-187379000	Strong transcription	Fetal Thymus	thymus
2	chr2:187357400-187383000	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr2:187357600-187382600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:187357600-187386200	Strong transcription	Dnd41	blood
5	chr2:187358200-187379000	Strong transcription	Primary B cells from peripheral blood	blood
6	chr2:187358600-187379000	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr2:187358600-187385800	Weak transcription	Esophagus	oesophagus
8	chr2:187358800-187377200	Strong transcription	HepG2	liver
9	chr2:187359000-187376000	Strong transcription	GM12878-XiMat	blood
10	chr2:187359600-187386400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:187359800-187374800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:187359800-187374800	Strong transcription	Rectal Mucosa Donor 31	rectum
13	chr2:187359800-187375000	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr2:187359800-187379000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr2:187359800-187379200	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr2:187359800-187379400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:187359800-187379800	Strong transcription	HSMM	muscle
18	chr2:187359800-187380400	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr2:187359800-187381400	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr2:187359800-187387200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:187360000-187376800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:187360000-187378600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr2:187360000-187378800	Strong transcription	Liver	Liver
24	chr2:187360000-187379200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr2:187360000-187386800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr2:187360200-187374400	Strong transcription	NH-A	brain
27	chr2:187360200-187374800	Strong transcription	Muscle Satellite Cultured Cells	--
28	chr2:187360200-187374800	Strong transcription	Fetal Intestine Large	intestine
29	chr2:187360200-187375400	Strong transcription	Primary B cells from cord blood	blood
30	chr2:187360200-187376800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:187360200-187377000	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr2:187360200-187378600	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr2:187360200-187379000	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr2:187360200-187379200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr2:187360400-187374800	Strong transcription	Duodenum Mucosa	Duodenum
36	chr2:187360800-187374800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr2:187360800-187379400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr2:187361200-187385600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr2:187361400-187376800	Strong transcription	Osteobl	bone
40	chr2:187361400-187389200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr2:187361800-187377800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr2:187362200-187378400	Strong transcription	K562	blood
43	chr2:187362400-187375800	Strong transcription	H1 Cell Line	embryonic stem cell
44	chr2:187363000-187374400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:187363000-187375200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr2:187363000-187385600	Weak transcription	Aorta	Aorta
47	chr2:187363000-187387800	Weak transcription	Pancreas	Pancrea
48	chr2:187363000-187408800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr2:187363200-187397600	Weak transcription	Small Intestine	intestine
50	chr2:187363600-187378600	Strong transcription	Primary T helper cells fromperipheralblood	blood

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