Variant report

Variant	esv2442819
Chromosome Location	chr2:39654799-39656302
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:39652451..39655493-chr2:39655687..39657617,3	K562	blood:
2	chr2:39647976..39656890-chr2:39661783..39666548,15	MCF-7	breast:
3	chr2:39655304..39658022-chr2:39658367..39662517,3	K562	blood:
4	chr2:39653965..39656375-chr2:39663851..39666207,4	K562	blood:
5	chr2:39655176..39658174-chr2:39672805..39675633,2	K562	blood:
6	chr2:39652451..39655493-chr2:39655687..39657617,3	K562	blood:
7	chr2:39651403..39653951-chr2:39655387..39658790,4	K562	blood:
8	chr2:39652432..39656926-chr2:39657241..39661273,4	MCF-7	breast:
9	chr2:39654384..39656809-chr2:39659803..39661309,2	MCF-7	breast:
10	chr2:39654727..39657322-chr2:39662344..39664931,3	MCF-7	breast:
11	chr2:39637192..39639411-chr2:39655516..39658352,2	K562	blood:
12	chr2:39654637..39656374-chr2:39657864..39660833,3	K562	blood:
13	chr2:39653934..39656533-chr2:39662404..39664415,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000231312	chromatin interactions
ENSG00000011566	chromatin interactions

Extended variants
information (count: 55 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532455552	chr2:39654916-39654917	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs550935868	chr2:39654920-39654921	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs560579187	chr2:39654930-39654931	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs550134945	chr2:39654935-39654936	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs146584487	chr2:39654937-39654938	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs11886434	chr2:39654939-39654940	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs548068069	chr2:39654954-39654955	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs567764042	chr2:39654990-39654991	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs375185076	chr2:39655043-39655044	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs571528434	chr2:39655138-39655139	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs116208363	chr2:39655160-39655161	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs368550360	chr2:39655167-39655168	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs140973798	chr2:39655214-39655215	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs140312383	chr2:39655231-39655232	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs200462245	chr2:39655236-39655237	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs186190172	chr2:39655243-39655244	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs538643826	chr2:39655328-39655329	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs144763136	chr2:39655488-39655489	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs575516113	chr2:39655505-39655506	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs543221583	chr2:39655515-39655516	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs561294085	chr2:39655547-39655548	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs572894497	chr2:39655564-39655565	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs539905325	chr2:39655570-39655571	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs564962043	chr2:39655572-39655573	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs532193958	chr2:39655578-39655579	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs550576192	chr2:39655612-39655613	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs535875354	chr2:39655624-39655625	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs562807330	chr2:39655630-39655631	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs557151367	chr2:39655635-39655636	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs6717792	chr2:39655643-39655644	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs548385993	chr2:39655678-39655679	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs532533661	chr2:39655685-39655686	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs535129061	chr2:39655716-39655717	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs575378203	chr2:39655720-39655721	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs546731528	chr2:39655740-39655741	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs571384298	chr2:39655742-39655743	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs538680330	chr2:39655752-39655753	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs12614034	chr2:39655773-39655774	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs116460766	chr2:39655807-39655808	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs145652216	chr2:39655823-39655824	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs368759263	chr2:39655861-39655862	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs571198984	chr2:39655867-39655868	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs536495393	chr2:39655926-39655927	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs115053366	chr2:39655932-39655933	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs573396287	chr2:39656007-39656008	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs540820676	chr2:39656009-39656010	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs565002638	chr2:39656037-39656038	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs371797399	chr2:39656038-39656039	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs557886347	chr2:39656040-39656041	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs376825062	chr2:39656102-39656103	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
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	22495311	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
Colorectal cancer	16272173	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39637200-39659000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr2:39639200-39658000	Weak transcription	Fetal Stomach	stomach
3	chr2:39639600-39657200	Weak transcription	HMEC	breast
4	chr2:39640800-39656800	Weak transcription	NH-A	brain
5	chr2:39640800-39660000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:39641000-39656600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:39641200-39659600	Weak transcription	Brain Angular Gyrus	brain
8	chr2:39644200-39661600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr2:39645000-39658800	Weak transcription	Brain Anterior Caudate	brain
10	chr2:39645200-39658200	Weak transcription	Right Ventricle	heart
11	chr2:39646000-39660200	Weak transcription	Fetal Intestine Small	intestine
12	chr2:39646200-39656200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:39646200-39658000	Weak transcription	Liver	Liver
14	chr2:39647000-39657400	Weak transcription	Adipose Nuclei	Adipose
15	chr2:39647200-39658400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:39647200-39659000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr2:39647400-39656600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr2:39647400-39657800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr2:39647400-39658400	Weak transcription	Small Intestine	intestine
20	chr2:39647400-39658600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr2:39647800-39660200	Weak transcription	Pancreas	Pancrea
22	chr2:39648400-39658200	Weak transcription	Aorta	Aorta
23	chr2:39649800-39659200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr2:39650000-39658600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr2:39650200-39655200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:39650200-39655200	Enhancers	HepG2	liver
27	chr2:39650400-39655400	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr2:39650600-39656600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:39651400-39655200	Enhancers	Dnd41	blood
30	chr2:39651600-39655000	Enhancers	A549	lung
31	chr2:39651600-39655600	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr2:39651800-39658000	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr2:39652000-39655200	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr2:39652000-39656600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:39652000-39658000	Weak transcription	Stomach Smooth Muscle	stomach
36	chr2:39652000-39658600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr2:39652000-39662400	Weak transcription	Esophagus	oesophagus
38	chr2:39652000-39662400	Weak transcription	Lung	lung
39	chr2:39652200-39658000	Weak transcription	GM12878-XiMat	blood
40	chr2:39652400-39661200	Weak transcription	HUVEC	blood vessel
41	chr2:39652600-39655000	Enhancers	Fetal Heart	heart
42	chr2:39652800-39655000	Weak transcription	Psoas Muscle	Psoas
43	chr2:39652800-39656600	Weak transcription	Osteobl	bone
44	chr2:39652800-39657000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr2:39652800-39657800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr2:39652800-39658000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:39652800-39658200	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr2:39652800-39658200	Weak transcription	Hela-S3	cervix
49	chr2:39652800-39658600	Weak transcription	Left Ventricle	heart
50	chr2:39652800-39658600	Weak transcription	Right Atrium	heart

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