Variant report

Variant	esv1837084
Chromosome Location	chr2:38961629-38971745
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	chr2:38821957..38830238-chr2:38965333..38974515,17	K562	blood:
2	chr2:38968377..38971030-chr2:39036081..39038951,2	K562	blood:
3	chr2:38778308..38782276-chr2:38966801..38969709,4	K562	blood:
4	chr2:38806174..38811270-chr2:38966687..38973672,10	K562	blood:
5	chr2:38842870..38845739-chr2:38968254..38970613,2	K562	blood:
6	chr2:38800582..38805538-chr2:38967531..38972325,7	K562	blood:
7	chr2:38966114..38968421-chr2:39005419..39007550,2	MCF-7	breast:
8	chr2:38828482..38830081-chr2:38959059..38962249,3	MCF-7	breast:
9	chr2:38969744..38972668-chr2:39079063..39081917,2	K562	blood:
10	chr2:38816516..38836019-chr2:38963690..38980163,62	K562	blood:
11	chr2:38971158..38973654-chr2:39179143..39181856,2	MCF-7	breast:
12	chr2:38771801..38777092-chr2:38966712..38971904,5	K562	blood:
13	chr2:38807538..38810280-chr2:38962388..38964852,2	K562	blood:
14	chr2:38521502..38523654-chr2:38961697..38963293,2	K562	blood:
15	chr2:38824026..38825901-chr2:38962946..38965190,2	K562	blood:
16	chr2:38812717..38814581-chr2:38964015..38965559,2	K562	blood:
17	chr2:38806614..38812442-chr2:38966843..38970976,5	K562	blood:
18	chr2:38968077..38970035-chr2:38995563..38997615,2	K562	blood:
19	chr2:38763105..38763665-chr2:38968175..38968815,2	MCF-7	breast:
20	chr2:38825865..38831347-chr2:38967441..38973263,7	MCF-7	breast:
21	chr2:38820056..38822885-chr2:38968180..38969856,2	MCF-7	breast:
22	chr2:38968273..38972141-chr2:39003625..39007051,4	MCF-7	breast:
23	chr2:38764868..38766444-chr2:38970080..38972434,2	K562	blood:
24	chr2:38957599..38960532-chr2:38963906..38966818,3	MCF-7	breast:
25	chr2:38740585..38742433-chr2:38970055..38972090,2	K562	blood:
26	chr2:38797642..38800500-chr2:38970154..38972893,3	K562	blood:
27	chr2:38891654..38895079-chr2:38966717..38969696,3	K562	blood:
28	chr2:38759757..38767880-chr2:38967038..38973617,12	K562	blood:
29	chr2:38761989..38764024-chr2:38963798..38966475,2	K562	blood:
30	chr2:38777342..38780101-chr2:38971109..38972812,2	K562	blood:
31	chr2:38890926..38894484-chr2:38966717..38969696,3	K562	blood:
32	chr2:38754116..38756013-chr2:38969900..38972568,2	K562	blood:
33	chr2:38776916..38778592-chr2:38969344..38970967,2	K562	blood:
34	chr2:38754021..38756013-chr2:38969685..38972568,2	K562	blood:
35	chr2:38761614..38763492-chr2:38966918..38968538,2	K562	blood:
36	chr2:38798201..38801159-chr2:38970584..38973255,2	K562	blood:
37	chr2:38749544..38751613-chr2:38963489..38965052,2	K562	blood:
38	chr2:38778308..38780052-chr2:38967008..38969234,2	K562	blood:
39	chr2:38748674..38751613-chr2:38962125..38964989,2	K562	blood:
40	chr2:38601784..38603879-chr2:38964621..38966916,2	K562	blood:
41	chr2:38539761..38541976-chr2:38970662..38973423,2	K562	blood:
42	chr2:38952964..38955147-chr2:38962662..38964178,2	K562	blood:
43	chr2:38958596..38960601-chr2:38963108..38966299,3	K562	blood:
44	chr2:38830274..38832898-chr2:38967361..38970126,3	K562	blood:
45	chr2:38970433..38973202-chr2:39101561..39103426,2	K562	blood:
46	chr2:38539761..38541976-chr2:38970662..38973423,3	K562	blood:
47	chr2:38971477..38974181-chr2:39070212..39071979,2	K562	blood:
48	chr2:38783818..38787523-chr2:38967718..38971056,4	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	chr2:38970816-38970838
2	SRSF7	hsa-miR-130b-3p	chr2:38970822-38970816
3	SFRS7	hsa-miR-130b-3p	chr2:38971609-38971632
4	SFRS7	hsa-miR-22-3p	chr2:38970833-38970855
5	SFRS7	hsa-miR-421	chr2:38970819-38970838

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

Extended variants
information (count: 482 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:482 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4670890	chr2:38961629-38961630	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs540322230	chr2:38961649-38961650	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs550765739	chr2:38961663-38961664	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs116285425	chr2:38961668-38961669	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs190577912	chr2:38961774-38961775	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs1271425	chr2:38961815-38961816	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs371077274	chr2:38961828-38961829	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs200948721	chr2:38961832-38961833	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs397763621	chr2:38961848-38961849	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs80269767	chr2:38961849-38961850	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs138090594	chr2:38961871-38961872	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs192274642	chr2:38961899-38961900	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs34891955	chr2:38961933-38961934	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs534703172	chr2:38961978-38961979	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs546549579	chr2:38961979-38961980	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs142625575	chr2:38961998-38961999	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs144796049	chr2:38962001-38962002	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs184523108	chr2:38962021-38962022	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs374535313	chr2:38962034-38962035	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs536830499	chr2:38962056-38962057	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs116790260	chr2:38962073-38962074	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs573530130	chr2:38962095-38962096	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs188909856	chr2:38962118-38962119	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs369399020	chr2:38962168-38962169	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs564831447	chr2:38962179-38962180	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs576890563	chr2:38962184-38962185	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs544001798	chr2:38962223-38962224	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs181285804	chr2:38962228-38962229	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs368660530	chr2:38962232-38962233	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs138649943	chr2:38962270-38962271	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547936794	chr2:38962320-38962321	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs374102577	chr2:38962338-38962339	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs527551213	chr2:38962339-38962340	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs546613244	chr2:38962391-38962392	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs142886756	chr2:38962417-38962418	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs539009827	chr2:38962418-38962419	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs34502485	chr2:38962466-38962467	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs186395286	chr2:38962506-38962507	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs550834393	chr2:38962555-38962556	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs569329115	chr2:38962564-38962565	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs562406862	chr2:38962613-38962614	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs189227425	chr2:38962617-38962618	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555157077	chr2:38962638-38962639	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs79286967	chr2:38962652-38962653	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs573594385	chr2:38962694-38962695	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs534467037	chr2:38962700-38962701	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs545486470	chr2:38962711-38962712	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs557367280	chr2:38962730-38962731	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs533041048	chr2:38962738-38962739	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs61388335	chr2:38962742-38962743	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:658 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

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	chr2:38956000-38961800	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr2:38956000-38962400	Strong transcription	Primary T cells from cord blood	blood
27	chr2:38956000-38962400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr2:38956000-38962600	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr2:38956000-38962600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr2:38956000-38962800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr2:38956400-38962000	Strong transcription	Fetal Intestine Small	intestine
32	chr2:38956400-38962600	Strong transcription	Fetal Stomach	stomach
33	chr2:38956400-38963200	Strong transcription	Thymus	Thymus
34	chr2:38956600-38962400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:38956600-38962400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:38956600-38962400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr2:38956600-38962600	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr2:38956600-38962600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:38956600-38962600	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr2:38956600-38962600	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr2:38956600-38963200	Strong transcription	Fetal Muscle Leg	muscle
42	chr2:38956600-38963400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr2:38956600-38965600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr2:38956600-38965600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr2:38956600-38965600	Strong transcription	Fetal Brain Female	brain
46	chr2:38956600-38974200	Strong transcription	Fetal Thymus	thymus
47	chr2:38956800-38962400	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr2:38957000-38962800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr2:38957000-38963200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr2:38957000-38966600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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