Variant report

Variant	esv1814150
Chromosome Location	chr2:38948483-38972456
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:85)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:12)

No data

(count:85 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr2:38812717..38814581-chr2:38964015..38965559,2	K562	blood:
2	chr2:38890926..38894484-chr2:38966717..38969696,3	K562	blood:
3	chr2:38740585..38742433-chr2:38970055..38972090,2	K562	blood:
4	chr2:38521502..38523654-chr2:38961697..38963293,2	K562	blood:
5	chr2:38950132..38952151-chr2:38956554..38959124,2	MCF-7	breast:
6	chr2:38969744..38972668-chr2:39079063..39081917,2	K562	blood:
7	chr2:38949075..38951291-chr2:38976522..38979584,3	K562	blood:
8	chr2:38827308..38829836-chr2:38948973..38950566,2	MCF-7	breast:
9	chr2:38827236..38831286-chr2:38946528..38952512,8	K562	blood:
10	chr2:38827561..38831599-chr2:38948321..38950539,4	MCF-7	breast:
11	chr2:38830251..38831211-chr2:38952784..38953806,3	MCF-7	breast:
12	chr2:38763105..38763665-chr2:38968175..38968815,2	MCF-7	breast:
13	chr2:38766439..38768320-chr2:38948180..38949983,2	K562	blood:
14	chr2:38806248..38808565-chr2:38954475..38956582,2	K562	blood:
15	chr2:38761989..38764024-chr2:38963798..38966475,2	K562	blood:
16	chr2:38829435..38831561-chr2:38952602..38955088,2	MCF-7	breast:
17	chr2:38968077..38970035-chr2:38995563..38997615,2	K562	blood:
18	chr2:38808368..38809303-chr2:38952790..38953819,4	K562	blood:
19	chr2:38797642..38800500-chr2:38970154..38972893,3	K562	blood:
20	chr2:38783818..38787523-chr2:38967718..38971056,4	K562	blood:
21	chr2:38778308..38782276-chr2:38966801..38969709,4	K562	blood:
22	chr2:38798201..38801159-chr2:38970584..38973255,2	K562	blood:
23	chr2:38830274..38832898-chr2:38967361..38970126,3	K562	blood:
24	chr2:38842870..38845739-chr2:38968254..38970613,2	K562	blood:
25	chr2:38807538..38810280-chr2:38962388..38964852,2	K562	blood:
26	chr2:38777342..38780101-chr2:38971109..38972812,2	K562	blood:
27	chr2:38749544..38751613-chr2:38963489..38965052,2	K562	blood:
28	chr2:38830096..38832315-chr2:38948047..38950594,2	MCF-7	breast:
29	chr2:38762932..38763779-chr2:38952852..38953820,3	K562	blood:
30	chr2:38957599..38960532-chr2:38963906..38966818,3	MCF-7	breast:
31	chr2:38950132..38952151-chr2:38956554..38959124,2	MCF-7	breast:
32	chr2:38820056..38822885-chr2:38968180..38969856,2	MCF-7	breast:
33	chr2:38892250..38893779-chr2:38950404..38953319,2	MCF-7	breast:
34	chr2:38776916..38778592-chr2:38969344..38970967,2	K562	blood:
35	chr2:38759757..38767880-chr2:38967038..38973617,12	K562	blood:
36	chr2:38958596..38960601-chr2:38963108..38966299,3	K562	blood:
37	chr2:38966114..38968421-chr2:39005419..39007550,2	MCF-7	breast:
38	chr2:38825865..38831347-chr2:38967441..38973263,7	MCF-7	breast:
39	chr2:38806174..38811270-chr2:38966687..38973672,10	K562	blood:
40	chr2:38970433..38973202-chr2:39101561..39103426,2	K562	blood:
41	chr2:38539761..38541976-chr2:38970662..38973423,3	K562	blood:
42	chr2:38778308..38780052-chr2:38967008..38969234,2	K562	blood:
43	chr2:38890666..38892556-chr2:38947054..38950004,2	K562	blood:
44	chr2:38764868..38766444-chr2:38970080..38972434,2	K562	blood:
45	chr2:38948167..38950183-chr2:38951156..38954719,3	MCF-7	breast:
46	chr2:38968273..38972141-chr2:39003625..39007051,4	MCF-7	breast:
47	chr2:38771801..38777092-chr2:38966712..38971904,5	K562	blood:
48	chr2:38806614..38812442-chr2:38966843..38970976,5	K562	blood:
49	chr2:38817363..38817906-chr2:38949008..38949985,2	MCF-7	breast:
50	chr2:38948561..38951558-chr2:38978236..38979833,2	MCF-7	breast:

No data

(count:12 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	SRSF7	hsa-miR-130b-3p	chr2:38970822-38970816
2	SRSF7	hsa-miR-181a-5p	chr2:38972109-38972102
3	SFRS7	hsa-miR-374b-5p	chr2:38972223-38972244
4	SFRS7	hsa-miR-421	chr2:38970819-38970838
5	SFRS7	hsa-miR-130b-3p	chr2:38971609-38971632
6	SRSF7	hsa-miR-421	chr2:38972112-38972106
7	SFRS7	hsa-miR-421	chr2:38972107-38972130
8	SRSF7	hsa-miR-374b-5p	chr2:38972229-38972222
9	SFRS7	hsa-miR-374b-5p	chr2:38972118-38972140
10	SFRS7	hsa-miR-22-3p	chr2:38970833-38970855
11	SFRS7	hsa-miR-130b-3p	chr2:38970816-38970838
12	SFRS7	hsa-miR-181a-5p	chr2:38972103-38972125

Variant related genes	Relation type
ENSG00000223922	chromatin interactions
ENSG00000163214	chromatin interactions
ENSG00000235586	chromatin interactions
ENSG00000115875	chromatin interactions
ENSG00000143889	chromatin interactions
ENSG00000232114	chromatin interactions
ENSG00000152147	chromatin interactions
ENSG00000143891	chromatin interactions
ENSG00000271443	chromatin interactions
ENSG00000188010	chromatin interactions
ENSG00000119787	chromatin interactions

Extended variants
information (count: 1100 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1100 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186153030	chr2:38948490-38948491	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs369863992	chr2:38948506-38948507	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs563486908	chr2:38948519-38948520	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs575326426	chr2:38948581-38948582	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs143104724	chr2:38948631-38948632	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs190570571	chr2:38948672-38948673	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs148221844	chr2:38948678-38948679	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs181685050	chr2:38948689-38948690	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs374523276	chr2:38948692-38948693	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs111629661	chr2:38948693-38948694	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs550594734	chr2:38948717-38948718	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs569016405	chr2:38948724-38948725	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs12617755	chr2:38948730-38948731	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs186661791	chr2:38948733-38948734	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs373080139	chr2:38948778-38948779	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs566623667	chr2:38948786-38948787	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs550051839	chr2:38948817-38948818	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs533730705	chr2:38948837-38948838	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs61232530	chr2:38948859-38948860	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs12712613	chr2:38948860-38948861	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs202151423	chr2:38948927-38948928	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs191158732	chr2:38948937-38948938	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs12712614	chr2:38948949-38948950	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs556896748	chr2:38948964-38948965	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs370929205	chr2:38949023-38949024	Weak transcription Enhancers Active TSS Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs373075418	chr2:38949061-38949062	Weak transcription Enhancers Active TSS Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs575338287	chr2:38949070-38949071	Weak transcription Enhancers Active TSS Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs78858479	chr2:38949088-38949089	Weak transcription Enhancers Active TSS Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs200980882	chr2:38949180-38949181	Weak transcription Enhancers Active TSS Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs373574478	chr2:38949232-38949233	Weak transcription Enhancers Active TSS Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs551120119	chr2:38949249-38949250	Weak transcription Enhancers Active TSS Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs376302420	chr2:38949258-38949259	Weak transcription Enhancers Active TSS Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs67716743	chr2:38949275-38949276	Weak transcription Enhancers Active TSS Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs540451199	chr2:38949311-38949312	Weak transcription Enhancers Active TSS Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs117574663	chr2:38949346-38949347	Weak transcription Enhancers Active TSS Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs114329610	chr2:38949368-38949369	Weak transcription Enhancers Active TSS Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs550607223	chr2:38949401-38949402	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs183003730	chr2:38949478-38949479	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs113184185	chr2:38949495-38949496	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs186820651	chr2:38949504-38949505	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs116829119	chr2:38949518-38949519	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs534039307	chr2:38949554-38949555	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs552077048	chr2:38949608-38949609	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs570423497	chr2:38949631-38949632	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs537701496	chr2:38949653-38949654	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs535943701	chr2:38949691-38949692	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs556958323	chr2:38949862-38949863	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs554693710	chr2:38949945-38949946	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs189657314	chr2:38949946-38949947	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs555078743	chr2:38949954-38949955	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	4 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
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:1075 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:38894400-38960600	Weak transcription	Brain Substantia Nigra	brain
2	chr2:38894800-38949400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:38909400-38960600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:38918000-38949400	Weak transcription	Primary B cells from cord blood	blood
5	chr2:38918600-38956800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr2:38927600-38957000	Weak transcription	Brain Hippocampus Middle	brain
7	chr2:38928800-38971600	Weak transcription	Small Intestine	intestine
8	chr2:38930000-38956600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr2:38930600-38965000	Weak transcription	Gastric	stomach
10	chr2:38931200-38948600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:38932800-38956800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr2:38936400-38957200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:38936400-38960600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr2:38936400-38968400	Weak transcription	Colonic Mucosa	Colon
15	chr2:38937200-38956600	Weak transcription	Fetal Brain Female	brain
16	chr2:38937600-38970400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr2:38938000-38949400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr2:38938000-38949400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr2:38938400-38948600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr2:38939000-38956600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:38939200-38949400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr2:38939200-38949400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr2:38939200-38958600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:38940400-38949400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr2:38943600-38949200	Weak transcription	Liver	Liver
26	chr2:38943600-38949400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr2:38943600-38949400	Weak transcription	Psoas Muscle	Psoas
28	chr2:38943600-38956000	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr2:38943600-38958600	Weak transcription	Aorta	Aorta
30	chr2:38943800-38948800	Weak transcription	Fetal Muscle Trunk	muscle
31	chr2:38944000-38949400	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr2:38945800-38949000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr2:38946200-38949000	Enhancers	HMEC	breast
34	chr2:38946400-38948600	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr2:38946400-38949000	Weak transcription	Thymus	Thymus
36	chr2:38946400-38957000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr2:38946600-38948800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr2:38946800-38949200	Enhancers	NHLF	lung
39	chr2:38947000-38948600	Enhancers	NH-A	brain
40	chr2:38947000-38948800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:38947000-38948800	Enhancers	Muscle Satellite Cultured Cells	--
42	chr2:38947000-38948800	Enhancers	Fetal Lung	lung
43	chr2:38947000-38951000	Enhancers	Fetal Heart	heart
44	chr2:38947200-38948600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:38947200-38949600	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr2:38947200-38949800	Enhancers	Adipose Nuclei	Adipose
47	chr2:38947200-38950000	Enhancers	Fetal Stomach	stomach
48	chr2:38947400-38949000	Enhancers	Osteobl	bone
49	chr2:38947400-38949800	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr2:38947400-38950000	Weak transcription	Duodenum Mucosa	Duodenum

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