Variant report

Variant	esv2468665
Chromosome Location	chr2:38776849-38778298
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:38776554..38778945-chr2:38971889..38973441,2	K562	blood:
2	chr2:38777679..38779633-chr2:38893883..38895640,2	K562	blood:
3	chr2:38777342..38780101-chr2:38971109..38972812,2	K562	blood:
4	chr2:38771801..38777092-chr2:38966712..38971904,5	K562	blood:
5	chr2:38776916..38778592-chr2:38969344..38970967,2	K562	blood:
6	chr2:38778255..38779937-chr2:38819083..38821616,2	K562	blood:
7	chr2:38773369..38778839-chr2:38780028..38785171,8	K562	blood:
8	chr2:38776394..38779089-chr2:38793854..38796056,2	MCF-7	breast:

No data

Extended variants
information (count: 79 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577792481	chr2:38776856-38776857	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs545138828	chr2:38776879-38776880	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs571711274	chr2:38776896-38776897	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs560359845	chr2:38776899-38776900	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs190250476	chr2:38776978-38776979	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs546171769	chr2:38776981-38776982	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs369533671	chr2:38776999-38777000	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs12616612	chr2:38777018-38777019	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs182069094	chr2:38777019-38777020	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs373698579	chr2:38777020-38777021	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs113405415	chr2:38777033-38777034	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs185692323	chr2:38777067-38777068	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs3731842	chr2:38777077-38777078	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs547766321	chr2:38777080-38777081	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188593500	chr2:38777081-38777082	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs75708034	chr2:38777082-38777083	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs371584023	chr2:38777122-38777123	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531678964	chr2:38777148-38777149	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs373570561	chr2:38777153-38777154	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs3731841	chr2:38777171-38777172	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs138856056	chr2:38777186-38777187	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs554898959	chr2:38777207-38777208	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs114328166	chr2:38777212-38777213	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs370245260	chr2:38777233-38777234	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571479368	chr2:38777236-38777237	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs538525987	chr2:38777249-38777250	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs78993225	chr2:38777260-38777261	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs149378097	chr2:38777281-38777282	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs576340220	chr2:38777288-38777289	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs3832102	chr2:38777326-38777327	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs142256694	chr2:38777328-38777329	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs58615269	chr2:38777330-38777331	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs3731840	chr2:38777331-38777332	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs55834495	chr2:38777334-38777335	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577594849	chr2:38777337-38777338	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs543488293	chr2:38777338-38777339	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs565868796	chr2:38777354-38777355	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs369774874	chr2:38777355-38777356	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs143109426	chr2:38777357-38777358	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs570207492	chr2:38777378-38777379	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs114778105	chr2:38777416-38777417	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs144712375	chr2:38777449-38777450	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs148091756	chr2:38777463-38777464	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs563858361	chr2:38777474-38777475	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs541136558	chr2:38777485-38777486	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs34133986	chr2:38777538-38777539	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs577838266	chr2:38777556-38777557	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs12623794	chr2:38777564-38777565	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs181173078	chr2:38777582-38777583	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs12478827	chr2:38777594-38777595	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:38763600-38809600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr2:38763800-38778800	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr2:38768200-38812800	Weak transcription	Psoas Muscle	Psoas
4	chr2:38768400-38787800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr2:38768400-38788000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr2:38768400-38791600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr2:38768800-38779000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:38769000-38793200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr2:38769200-38782800	Weak transcription	Stomach Smooth Muscle	stomach
10	chr2:38769200-38787800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:38769200-38788400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr2:38769600-38777000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:38770000-38788600	Weak transcription	Colon Smooth Muscle	Colon
14	chr2:38770200-38777600	Weak transcription	HSMM	muscle
15	chr2:38770200-38781000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:38770400-38778400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:38770400-38778800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:38770400-38778800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:38770400-38778800	Weak transcription	HSMMtube	muscle
20	chr2:38770400-38786600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:38770400-38787200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:38770400-38787200	Weak transcription	Duodenum Mucosa	Duodenum
23	chr2:38770400-38787200	Weak transcription	Fetal Intestine Large	intestine
24	chr2:38770400-38787200	Weak transcription	NHLF	lung
25	chr2:38770400-38787200	Weak transcription	Osteobl	bone
26	chr2:38770400-38787400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr2:38770400-38787400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr2:38770400-38791000	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr2:38770400-38794600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr2:38770600-38785800	Weak transcription	NH-A	brain
31	chr2:38770600-38787400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr2:38770600-38794800	Weak transcription	NHEK	skin
33	chr2:38770800-38794400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:38771000-38779400	Weak transcription	Fetal Thymus	thymus
35	chr2:38771000-38786200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr2:38771200-38778800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr2:38771200-38781000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr2:38771200-38787200	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr2:38771200-38787400	Weak transcription	HUVEC	blood vessel
40	chr2:38772000-38779200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr2:38772800-38787400	Weak transcription	HepG2	liver
42	chr2:38774000-38778600	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr2:38775000-38777600	Strong transcription	A549	lung
44	chr2:38775200-38783600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr2:38775600-38777000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:38775600-38781200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:38775800-38821800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr2:38776000-38777000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr2:38776200-38777000	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr2:38776200-38777000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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