Variant report

Variant	esv1797820
Chromosome Location	chr2:38941956-38972456
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:91)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:12)

No data

(count:91 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr2:38761989..38764024-chr2:38963798..38966475,2	K562	blood:
2	chr2:38776554..38778945-chr2:38971889..38973441,2	K562	blood:
3	chr2:38948167..38950183-chr2:38951156..38954719,3	MCF-7	breast:
4	chr2:38798201..38801159-chr2:38970584..38973255,2	K562	blood:
5	chr2:38601784..38603879-chr2:38964621..38966916,2	K562	blood:
6	chr2:38800582..38805538-chr2:38967531..38972325,7	K562	blood:
7	chr2:38830274..38832898-chr2:38967361..38970126,3	K562	blood:
8	chr2:38825865..38831347-chr2:38967441..38973263,7	MCF-7	breast:
9	chr2:38952964..38955147-chr2:38962662..38964178,2	K562	blood:
10	chr2:38778308..38780052-chr2:38967008..38969234,2	K562	blood:
11	chr2:38830251..38831211-chr2:38952784..38953806,3	MCF-7	breast:
12	chr2:38938757..38943721-chr2:38976171..38978586,4	K562	blood:
13	chr2:38763105..38763665-chr2:38968175..38968815,2	MCF-7	breast:
14	chr2:38966114..38968421-chr2:39005419..39007550,2	MCF-7	breast:
15	chr2:38828482..38830081-chr2:38959059..38962249,3	MCF-7	breast:
16	chr2:38827561..38831599-chr2:38948321..38950539,4	MCF-7	breast:
17	chr2:38539761..38541976-chr2:38970662..38973423,3	K562	blood:
18	chr2:38822529..38824278-chr2:38946523..38948124,2	K562	blood:
19	chr2:38944533..38947216-chr2:38977421..38979282,2	K562	blood:
20	chr2:38824026..38825901-chr2:38962946..38965190,2	K562	blood:
21	chr2:38803779..38806486-chr2:38953077..38954678,2	MCF-7	breast:
22	chr2:38521502..38523654-chr2:38961697..38963293,2	K562	blood:
23	chr2:38971477..38974181-chr2:39070212..39071979,2	K562	blood:
24	chr2:38778308..38782276-chr2:38966801..38969709,4	K562	blood:
25	chr2:38968377..38971030-chr2:39036081..39038951,2	K562	blood:
26	chr2:38968273..38972141-chr2:39003625..39007051,4	MCF-7	breast:
27	chr2:38754021..38756013-chr2:38969685..38972568,2	K562	blood:
28	chr2:38748674..38751613-chr2:38962125..38964989,2	K562	blood:
29	chr2:38824718..38826820-chr2:38951264..38953232,2	K562	blood:
30	chr2:38776916..38778592-chr2:38969344..38970967,2	K562	blood:
31	chr2:38805216..38808046-chr2:38947623..38949999,2	K562	blood:
32	chr2:38797642..38800500-chr2:38970154..38972893,3	K562	blood:
33	chr2:38951822..38954678-chr2:38974984..38978674,3	MCF-7	breast:
34	chr2:38771801..38777092-chr2:38966712..38971904,5	K562	blood:
35	chr2:38777342..38780101-chr2:38971109..38972812,2	K562	blood:
36	chr2:38970433..38973202-chr2:39101561..39103426,2	K562	blood:
37	chr2:38948561..38951558-chr2:38978236..38979833,2	MCF-7	breast:
38	chr2:38807538..38810280-chr2:38962388..38964852,2	K562	blood:
39	chr2:38817363..38817906-chr2:38949008..38949985,2	MCF-7	breast:
40	chr2:38761614..38763492-chr2:38966918..38968538,2	K562	blood:
41	chr2:38781085..38783046-chr2:38956281..38958070,2	K562	blood:
42	chr2:38950132..38952151-chr2:38956554..38959124,2	MCF-7	breast:
43	chr2:38971158..38973654-chr2:39179143..39181856,2	MCF-7	breast:
44	chr2:38892250..38893779-chr2:38950404..38953319,2	MCF-7	breast:
45	chr2:38783818..38787523-chr2:38967718..38971056,4	K562	blood:
46	chr2:38762932..38763779-chr2:38952852..38953820,3	K562	blood:
47	chr2:38829722..38830596-chr2:38953255..38953803,2	MCF-7	breast:
48	chr2:38759757..38767880-chr2:38967038..38973617,12	K562	blood:
49	chr2:38824669..38828895-chr2:38950792..38955552,5	K562	blood:
50	chr2:38827308..38829836-chr2:38948973..38950566,2	MCF-7	breast:

No data

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

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

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

Extended variants
information (count: 1338 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1338 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568825905	chr2:38941958-38941959	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs536366560	chr2:38941979-38941980	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs190559295	chr2:38942036-38942037	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs372686108	chr2:38942064-38942065	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs566548659	chr2:38942096-38942097	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs182812013	chr2:38942112-38942113	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs577254251	chr2:38942134-38942135	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs187187054	chr2:38942241-38942242	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs544684150	chr2:38942360-38942361	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs559865646	chr2:38942424-38942425	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs191647256	chr2:38942446-38942447	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs557098261	chr2:38942585-38942586	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs115860565	chr2:38942586-38942587	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs374536495	chr2:38942614-38942615	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs117723804	chr2:38942639-38942640	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs561074501	chr2:38942672-38942673	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs368041882	chr2:38942697-38942698	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs528562393	chr2:38942724-38942725	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs540512994	chr2:38942726-38942727	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs565439826	chr2:38942798-38942799	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs532699637	chr2:38942855-38942856	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs551219229	chr2:38942864-38942865	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs147605164	chr2:38942870-38942871	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs182814421	chr2:38942882-38942883	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs528802968	chr2:38942901-38942902	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs11898812	chr2:38942929-38942930	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs566611133	chr2:38942937-38942938	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs561190821	chr2:38943006-38943007	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs187886948	chr2:38943016-38943017	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs558473625	chr2:38943020-38943021	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs35682042	chr2:38943024-38943025	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs546963756	chr2:38943028-38943029	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs79043727	chr2:38943042-38943043	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs374839301	chr2:38943109-38943110	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs192220660	chr2:38943128-38943129	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs185759997	chr2:38943129-38943130	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs141666711	chr2:38943192-38943193	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs369393865	chr2:38943261-38943262	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs554535823	chr2:38943269-38943270	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs573268574	chr2:38943274-38943275	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs117813748	chr2:38943281-38943282	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs565361898	chr2:38943350-38943351	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs150422870	chr2:38943357-38943358	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs189393229	chr2:38943391-38943392	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs563219782	chr2:38943400-38943401	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs145212620	chr2:38943402-38943403	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs548215743	chr2:38943409-38943410	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs192262767	chr2:38943418-38943419	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs184512950	chr2:38943435-38943436	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs527416436	chr2:38943460-38943461	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 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:1279 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

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	chr2:38905000-38947600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr2:38909200-38947800	Weak transcription	Right Ventricle	heart
5	chr2:38909400-38960600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:38909600-38947800	Weak transcription	Brain Anterior Caudate	brain
7	chr2:38910000-38948000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr2:38914600-38948000	Weak transcription	Spleen	Spleen
9	chr2:38915800-38947200	Weak transcription	Ovary	ovary
10	chr2:38918000-38949400	Weak transcription	Primary B cells from cord blood	blood
11	chr2:38918600-38947600	Weak transcription	Hela-S3	cervix
12	chr2:38918600-38956800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr2:38920200-38942600	Weak transcription	Aorta	Aorta
14	chr2:38920400-38947800	Weak transcription	Esophagus	oesophagus
15	chr2:38921400-38947400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr2:38921600-38942800	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr2:38927400-38947600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr2:38927600-38957000	Weak transcription	Brain Hippocampus Middle	brain
19	chr2:38928200-38947800	Weak transcription	Stomach Mucosa	stomach
20	chr2:38928800-38971600	Weak transcription	Small Intestine	intestine
21	chr2:38930000-38946800	Weak transcription	Right Atrium	heart
22	chr2:38930000-38956600	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr2:38930600-38947000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr2:38930600-38965000	Weak transcription	Gastric	stomach
25	chr2:38930800-38943200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:38931000-38943000	Weak transcription	NHLF	lung
27	chr2:38931000-38943200	Weak transcription	NHDF-Ad	bronchial
28	chr2:38931200-38948600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:38931600-38944000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr2:38932400-38947600	Weak transcription	Colon Smooth Muscle	Colon
31	chr2:38932600-38942800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:38932600-38942800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:38932600-38943000	Weak transcription	Osteobl	bone
34	chr2:38932600-38947800	Weak transcription	Pancreas	Pancrea
35	chr2:38932800-38947000	Weak transcription	Lung	lung
36	chr2:38932800-38956800	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr2:38933200-38947600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr2:38933800-38947800	Weak transcription	Primary B cells from peripheral blood	blood
39	chr2:38934800-38947600	Weak transcription	K562	blood
40	chr2:38936200-38942400	Weak transcription	A549	lung
41	chr2:38936400-38957200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr2:38936400-38960600	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr2:38936400-38968400	Weak transcription	Colonic Mucosa	Colon
44	chr2:38936600-38944600	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr2:38936800-38942800	Strong transcription	HepG2	liver
46	chr2:38936800-38946000	Weak transcription	Thymus	Thymus
47	chr2:38937200-38956600	Weak transcription	Fetal Brain Female	brain
48	chr2:38937600-38943000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr2:38937600-38947600	Weak transcription	Stomach Smooth Muscle	stomach
50	chr2:38937600-38970400	Weak transcription	Placenta Amnion	Placenta Amnion

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