Variant report

Variant	esv1835355
Chromosome Location	chr2:38963952-38971745
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:46)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:5)

No data

(count:46 , 50 per page) page: 1

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

No data

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

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

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

Extended variants
information (count: 376 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:376 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10185651	chr2:38963952-38963953	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs527892161	chr2:38963956-38963957	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs552699379	chr2:38963993-38963994	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs199947057	chr2:38964028-38964029	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs368102499	chr2:38964032-38964033	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs538506394	chr2:38964036-38964037	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs556559856	chr2:38964042-38964043	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs183037002	chr2:38964093-38964094	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs535075590	chr2:38964119-38964120	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs553495443	chr2:38964132-38964133	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs567685666	chr2:38964139-38964140	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs571759749	chr2:38964142-38964143	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs545686205	chr2:38964190-38964191	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs572790388	chr2:38964197-38964198	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs370246512	chr2:38964258-38964259	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs557896941	chr2:38964259-38964260	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs185912649	chr2:38964260-38964261	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs147726814	chr2:38964323-38964324	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs543727475	chr2:38964333-38964334	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs1971104	chr2:38964358-38964359	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs530155506	chr2:38964370-38964371	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs542199567	chr2:38964377-38964378	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs560578368	chr2:38964388-38964389	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs527752441	chr2:38964398-38964399	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs552519147	chr2:38964428-38964429	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs573666951	chr2:38964453-38964454	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs564733278	chr2:38964465-38964466	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs114019344	chr2:38964473-38964474	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs144350304	chr2:38964486-38964487	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs568413733	chr2:38964505-38964506	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs572484601	chr2:38964510-38964511	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs546945911	chr2:38964513-38964514	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs34591453	chr2:38964527-38964528	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs3097713	chr2:38964531-38964532	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs1541877	chr2:38964561-38964562	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs557546095	chr2:38964581-38964582	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs145511585	chr2:38964612-38964613	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs7605847	chr2:38964658-38964659	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs59807108	chr2:38964704-38964705	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs573942933	chr2:38964721-38964722	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs183102457	chr2:38964729-38964730	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs148838603	chr2:38964750-38964751	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs550338721	chr2:38964763-38964764	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs4625887	chr2:38964764-38964765	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs79708416	chr2:38964793-38964794	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs80060039	chr2:38964821-38964822	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs188132315	chr2:38964823-38964824	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs551250616	chr2:38964853-38964854	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs560195949	chr2:38964897-38964898	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs531980690	chr2:38964906-38964907	Enhancers Weak transcription Genic enhancers 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
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:579 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

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	chr2:38956600-38965600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr2:38956600-38965600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr2:38956600-38965600	Strong transcription	Fetal Brain Female	brain
28	chr2:38956600-38974200	Strong transcription	Fetal Thymus	thymus
29	chr2:38957000-38966600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:38957200-38966400	Weak transcription	GM12878-XiMat	blood
31	chr2:38957400-38964600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr2:38957400-38964800	Weak transcription	Placenta	Placenta
33	chr2:38957400-38969800	Weak transcription	NHLF	lung
34	chr2:38958400-38964600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:38958400-38966600	Strong transcription	A549	lung
36	chr2:38958400-38971600	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr2:38958600-38968800	Weak transcription	NH-A	brain
38	chr2:38959200-38964000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr2:38959200-38964600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr2:38959600-38964400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr2:38959800-38964600	Weak transcription	Primary B cells from cord blood	blood
42	chr2:38960600-38971600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr2:38961000-38964400	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr2:38961000-38964400	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr2:38961000-38964400	Weak transcription	HSMM	muscle
46	chr2:38961000-38964800	Weak transcription	Brain Hippocampus Middle	brain
47	chr2:38961000-38972200	Weak transcription	Esophagus	oesophagus
48	chr2:38961200-38964400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr2:38961200-38964400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:38961200-38964400	Weak transcription	Brain Angular Gyrus	brain

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