Variant report

Variant	nsv581492
Chromosome Location	chr2:38960927-38971745
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:48)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:5)

No data

(count:48 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:38521502..38523654-chr2:38961697..38963293,2	K562	blood:
2	chr2:38824026..38825901-chr2:38962946..38965190,2	K562	blood:
3	chr2:38778308..38782276-chr2:38966801..38969709,4	K562	blood:
4	chr2:38952964..38955147-chr2:38962662..38964178,2	K562	blood:
5	chr2:38754116..38756013-chr2:38969900..38972568,2	K562	blood:
6	chr2:38761989..38764024-chr2:38963798..38966475,2	K562	blood:
7	chr2:38778308..38780052-chr2:38967008..38969234,2	K562	blood:
8	chr2:38763105..38763665-chr2:38968175..38968815,2	MCF-7	breast:
9	chr2:38968273..38972141-chr2:39003625..39007051,4	MCF-7	breast:
10	chr2:38601784..38603879-chr2:38964621..38966916,2	K562	blood:
11	chr2:38821957..38830238-chr2:38965333..38974515,17	K562	blood:
12	chr2:38828482..38830081-chr2:38959059..38962249,3	MCF-7	breast:
13	chr2:38825865..38831347-chr2:38967441..38973263,7	MCF-7	breast:
14	chr2:38740585..38742433-chr2:38970055..38972090,2	K562	blood:
15	chr2:38771801..38777092-chr2:38966712..38971904,5	K562	blood:
16	chr2:38816516..38836019-chr2:38963690..38980163,62	K562	blood:
17	chr2:38748674..38751613-chr2:38962125..38964989,2	K562	blood:
18	chr2:38749544..38751613-chr2:38963489..38965052,2	K562	blood:
19	chr2:38783818..38787523-chr2:38967718..38971056,4	K562	blood:
20	chr2:38807538..38810280-chr2:38962388..38964852,2	K562	blood:
21	chr2:38971477..38974181-chr2:39070212..39071979,2	K562	blood:
22	chr2:38891654..38895079-chr2:38966717..38969696,3	K562	blood:
23	chr2:38968377..38971030-chr2:39036081..39038951,2	K562	blood:
24	chr2:38966114..38968421-chr2:39005419..39007550,2	MCF-7	breast:
25	chr2:38812717..38814581-chr2:38964015..38965559,2	K562	blood:
26	chr2:38820056..38822885-chr2:38968180..38969856,2	MCF-7	breast:
27	chr2:38776916..38778592-chr2:38969344..38970967,2	K562	blood:
28	chr2:38970433..38973202-chr2:39101561..39103426,2	K562	blood:
29	chr2:38971158..38973654-chr2:39179143..39181856,2	MCF-7	breast:
30	chr2:38761614..38763492-chr2:38966918..38968538,2	K562	blood:
31	chr2:38969744..38972668-chr2:39079063..39081917,2	K562	blood:
32	chr2:38830274..38832898-chr2:38967361..38970126,3	K562	blood:
33	chr2:38539761..38541976-chr2:38970662..38973423,3	K562	blood:
34	chr2:38798201..38801159-chr2:38970584..38973255,2	K562	blood:
35	chr2:38958596..38960601-chr2:38963108..38966299,3	K562	blood:
36	chr2:38890926..38894484-chr2:38966717..38969696,3	K562	blood:
37	chr2:38800582..38805538-chr2:38967531..38972325,7	K562	blood:
38	chr2:38806614..38812442-chr2:38966843..38970976,5	K562	blood:
39	chr2:38539761..38541976-chr2:38970662..38973423,2	K562	blood:
40	chr2:38759757..38767880-chr2:38967038..38973617,12	K562	blood:
41	chr2:38806174..38811270-chr2:38966687..38973672,10	K562	blood:
42	chr2:38797642..38800500-chr2:38970154..38972893,3	K562	blood:
43	chr2:38957599..38960532-chr2:38963906..38966818,3	MCF-7	breast:
44	chr2:38777342..38780101-chr2:38971109..38972812,2	K562	blood:
45	chr2:38764868..38766444-chr2:38970080..38972434,2	K562	blood:
46	chr2:38842870..38845739-chr2:38968254..38970613,2	K562	blood:
47	chr2:38754021..38756013-chr2:38969685..38972568,2	K562	blood:
48	chr2:38968077..38970035-chr2:38995563..38997615,2	K562	blood:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location
1	SFRS7	hsa-miR-130b-3p	chr2:38971609-38971632
2	SFRS7	hsa-miR-130b-3p	chr2:38970816-38970838
3	SFRS7	hsa-miR-22-3p	chr2:38970833-38970855
4	SRSF7	hsa-miR-130b-3p	chr2:38970822-38970816
5	SFRS7	hsa-miR-421	chr2:38970819-38970838

Variant related genes	Relation type
ENSG00000143891	chromatin interactions
ENSG00000188010	chromatin interactions
ENSG00000119787	chromatin interactions
ENSG00000163214	chromatin interactions
ENSG00000232114	chromatin interactions
ENSG00000223922	chromatin interactions
ENSG00000152147	chromatin interactions
ENSG00000143889	chromatin interactions
ENSG00000235586	chromatin interactions
ENSG00000271443	chromatin interactions

Extended variants
information (count: 528 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:528 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3731838	chr2:38960927-38960928	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs575446169	chr2:38960952-38960953	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs147710433	chr2:38960953-38960954	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs3112178	chr2:38960967-38960968	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs576029745	chr2:38960987-38960988	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs573810176	chr2:38960990-38960991	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs187174408	chr2:38960996-38960997	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs553037196	chr2:38961011-38961012	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs199514782	chr2:38961020-38961021	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs200509726	chr2:38961022-38961023	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs368658376	chr2:38961026-38961027	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs142088145	chr2:38961038-38961039	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs545272167	chr2:38961077-38961078	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs564012160	chr2:38961087-38961088	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs531071551	chr2:38961090-38961091	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs542623890	chr2:38961102-38961103	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs145849530	chr2:38961159-38961160	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs368177329	chr2:38961171-38961172	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs528070215	chr2:38961178-38961179	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs561322616	chr2:38961184-38961185	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs546751843	chr2:38961219-38961220	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs571354827	chr2:38961263-38961264	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs532383518	chr2:38961266-38961267	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs191652284	chr2:38961269-38961270	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs569139967	chr2:38961294-38961295	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs536120608	chr2:38961316-38961317	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs77428435	chr2:38961368-38961369	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs113777936	chr2:38961404-38961405	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs1138974	chr2:38961409-38961410	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs113589850	chr2:38961414-38961415	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs1138975	chr2:38961415-38961416	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs557239418	chr2:38961436-38961437	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs575916563	chr2:38961463-38961464	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs72909121	chr2:38961502-38961503	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs369352641	chr2:38961525-38961526	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs70954749	chr2:38961526-38961527	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs74857574	chr2:38961527-38961528	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs75847197	chr2:38961528-38961529	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs534435127	chr2:38961559-38961560	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs371472479	chr2:38961560-38961561	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs368722657	chr2:38961563-38961564	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs112911853	chr2:38961568-38961569	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs372608625	chr2:38961569-38961570	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs187610350	chr2:38961571-38961572	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs192626541	chr2:38961591-38961592	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs185620462	chr2:38961619-38961620	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs4670890	chr2:38961629-38961630	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs540322230	chr2:38961649-38961650	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs550765739	chr2:38961663-38961664	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs116285425	chr2:38961668-38961669	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Colorectal cancer	16272173	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:702 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:38928800-38971600	Weak transcription	Small Intestine	intestine
2	chr2:38930600-38965000	Weak transcription	Gastric	stomach
3	chr2:38936400-38968400	Weak transcription	Colonic Mucosa	Colon
4	chr2:38937600-38970400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr2:38948200-38968200	Weak transcription	Stomach Mucosa	stomach
6	chr2:38948400-38964400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:38948400-38964600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:38948400-38970600	Weak transcription	NHEK	skin
9	chr2:38948600-38970200	Weak transcription	NHDF-Ad	bronchial
10	chr2:38948600-38971200	Weak transcription	Fetal Kidney	kidney
11	chr2:38948800-38964600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:38949000-38965000	Weak transcription	Right Ventricle	heart
13	chr2:38950000-38964600	Weak transcription	HUVEC	blood vessel
14	chr2:38950200-38970400	Weak transcription	Right Atrium	heart
15	chr2:38950400-38970400	Weak transcription	Psoas Muscle	Psoas
16	chr2:38950400-38973600	Weak transcription	Fetal Brain Male	brain
17	chr2:38950800-38964400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr2:38950800-38964600	Weak transcription	Primary hematopoietic stem cells	blood
19	chr2:38950800-38965000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:38950800-38969600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr2:38950800-38972200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr2:38951000-38970600	Weak transcription	Fetal Heart	heart
23	chr2:38953200-38964600	Weak transcription	K562	blood
24	chr2:38954000-38964400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr2:38955800-38961400	Strong transcription	Fetal Intestine Large	intestine
26	chr2:38956000-38961200	Strong transcription	Duodenum Mucosa	Duodenum
27	chr2:38956000-38961800	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr2:38956000-38962400	Strong transcription	Primary T cells from cord blood	blood
29	chr2:38956000-38962400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr2:38956000-38962600	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr2:38956000-38962600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr2:38956000-38962800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr2:38956400-38962000	Strong transcription	Fetal Intestine Small	intestine
34	chr2:38956400-38962600	Strong transcription	Fetal Stomach	stomach
35	chr2:38956400-38963200	Strong transcription	Thymus	Thymus
36	chr2:38956600-38961000	Strong transcription	Stomach Smooth Muscle	stomach
37	chr2:38956600-38961200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr2:38956600-38961200	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr2:38956600-38961400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr2:38956600-38962400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:38956600-38962400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:38956600-38962400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr2:38956600-38962600	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr2:38956600-38962600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr2:38956600-38962600	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr2:38956600-38962600	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr2:38956600-38963200	Strong transcription	Fetal Muscle Leg	muscle
48	chr2:38956600-38963400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr2:38956600-38965600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr2:38956600-38965600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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