Variant report

Variant	nsv581491
Chromosome Location	chr2:38960491-38971745
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:50)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:5)

No data

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

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

No data

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

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

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

Extended variants
information (count: 558 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:558 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3097714	chr2:38960491-38960492	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs148573471	chr2:38960492-38960493	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs187237642	chr2:38960515-38960516	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs113889958	chr2:38960517-38960518	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs111682337	chr2:38960523-38960524	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs145562804	chr2:38960582-38960583	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs533329262	chr2:38960590-38960591	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs199571530	chr2:38960593-38960594	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs576005793	chr2:38960618-38960619	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs113347615	chr2:38960622-38960623	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs370434118	chr2:38960625-38960626	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs376098830	chr2:38960627-38960628	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs116100345	chr2:38960634-38960635	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs140271694	chr2:38960642-38960643	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs575045929	chr2:38960661-38960662	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs112628295	chr2:38960676-38960677	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs370923789	chr2:38960682-38960683	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs374312709	chr2:38960688-38960689	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs574966384	chr2:38960712-38960713	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs367658978	chr2:38960714-38960715	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs371738401	chr2:38960743-38960744	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs376275073	chr2:38960752-38960753	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs567379441	chr2:38960766-38960767	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs17023056	chr2:38960823-38960824	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs546839978	chr2:38960846-38960847	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs376663112	chr2:38960854-38960855	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs571493695	chr2:38960867-38960868	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs542864375	chr2:38960882-38960883	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs182798482	chr2:38960905-38960906	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs373631271	chr2:38960906-38960907	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs3731838	chr2:38960927-38960928	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs575446169	chr2:38960952-38960953	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs147710433	chr2:38960953-38960954	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs3112178	chr2:38960967-38960968	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs576029745	chr2:38960987-38960988	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs573810176	chr2:38960990-38960991	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs187174408	chr2:38960996-38960997	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs553037196	chr2:38961011-38961012	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs199514782	chr2:38961020-38961021	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs200509726	chr2:38961022-38961023	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs368658376	chr2:38961026-38961027	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs142088145	chr2:38961038-38961039	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs545272167	chr2:38961077-38961078	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs564012160	chr2:38961087-38961088	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs531071551	chr2:38961090-38961091	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs542623890	chr2:38961102-38961103	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs145849530	chr2:38961159-38961160	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs368177329	chr2:38961171-38961172	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs528070215	chr2:38961178-38961179	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs561322616	chr2:38961184-38961185	Weak transcription Strong transcription 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:711 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:38894400-38960600	Weak transcription	Brain Substantia Nigra	brain
2	chr2:38909400-38960600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:38928800-38971600	Weak transcription	Small Intestine	intestine
4	chr2:38930600-38965000	Weak transcription	Gastric	stomach
5	chr2:38936400-38960600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:38936400-38968400	Weak transcription	Colonic Mucosa	Colon
7	chr2:38937600-38970400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr2:38948200-38968200	Weak transcription	Stomach Mucosa	stomach
9	chr2:38948400-38964400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:38948400-38964600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:38948400-38970600	Weak transcription	NHEK	skin
12	chr2:38948600-38970200	Weak transcription	NHDF-Ad	bronchial
13	chr2:38948600-38971200	Weak transcription	Fetal Kidney	kidney
14	chr2:38948800-38960600	Weak transcription	Brain Angular Gyrus	brain
15	chr2:38948800-38964600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:38949000-38965000	Weak transcription	Right Ventricle	heart
17	chr2:38950000-38964600	Weak transcription	HUVEC	blood vessel
18	chr2:38950200-38970400	Weak transcription	Right Atrium	heart
19	chr2:38950400-38970400	Weak transcription	Psoas Muscle	Psoas
20	chr2:38950400-38973600	Weak transcription	Fetal Brain Male	brain
21	chr2:38950600-38960600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr2:38950800-38964400	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr2:38950800-38964600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr2:38950800-38965000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:38950800-38969600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr2:38950800-38972200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr2:38951000-38970600	Weak transcription	Fetal Heart	heart
28	chr2:38953200-38964600	Weak transcription	K562	blood
29	chr2:38954000-38964400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr2:38955800-38961400	Strong transcription	Fetal Intestine Large	intestine
31	chr2:38956000-38961200	Strong transcription	Duodenum Mucosa	Duodenum
32	chr2:38956000-38961800	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr2:38956000-38962400	Strong transcription	Primary T cells from cord blood	blood
34	chr2:38956000-38962400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr2:38956000-38962600	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr2:38956000-38962600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr2:38956000-38962800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr2:38956400-38962000	Strong transcription	Fetal Intestine Small	intestine
39	chr2:38956400-38962600	Strong transcription	Fetal Stomach	stomach
40	chr2:38956400-38963200	Strong transcription	Thymus	Thymus
41	chr2:38956600-38960800	Strong transcription	Adipose Nuclei	Adipose
42	chr2:38956600-38961000	Strong transcription	Stomach Smooth Muscle	stomach
43	chr2:38956600-38961200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr2:38956600-38961200	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr2:38956600-38961400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:38956600-38962400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:38956600-38962400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:38956600-38962400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr2:38956600-38962600	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr2:38956600-38962600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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