Variant report

Variant	esv2762495
Chromosome Location	chr2:38861095-38886391
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:48)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:48 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:38850061..38855322-chr2:38870938..38874508,5	K562	blood:
2	chr2:38865694..38869051-chr2:38869356..38872589,6	K562	blood:
3	chr2:38879772..38882593-chr2:38978947..38981476,2	K562	blood:
4	chr2:38860089..38863428-chr2:38976891..38979875,4	K562	blood:
5	chr2:38853457..38857426-chr2:38859030..38862948,5	K562	blood:
6	chr2:38866346..38869051-chr2:38869593..38871787,4	K562	blood:
7	chr2:38826787..38828390-chr2:38864612..38866971,2	K562	blood:
8	chr2:38881075..38882966-chr2:38882998..38885867,3	K562	blood:
9	chr2:38828597..38830745-chr2:38876440..38878002,2	K562	blood:
10	chr2:38823810..38825373-chr2:38867072..38871026,3	K562	blood:
11	chr2:38822264..38824489-chr2:38870337..38872562,2	K562	blood:
12	chr2:38830024..38832660-chr2:38864551..38867364,2	K562	blood:
13	chr2:38825926..38832179-chr2:38868147..38876106,18	K562	blood:
14	chr2:38861742..38863889-chr2:38865469..38867826,3	K562	blood:
15	chr2:38881069..38883433-chr2:38890460..38892656,2	K562	blood:
16	chr2:38862386..38864039-chr2:38870726..38872820,2	K562	blood:
17	chr2:38861742..38863266-chr2:38865469..38867826,2	K562	blood:
18	chr2:38869520..38871191-chr2:38897792..38900773,2	K562	blood:
19	chr2:38827470..38830831-chr2:38880188..38882467,3	K562	blood:
20	chr2:38876173..38878521-chr2:38919650..38921533,2	MCF-7	breast:
21	chr2:38872328..38874497-chr2:38976004..38978659,2	K562	blood:
22	chr2:38829210..38832278-chr2:38859055..38864456,6	K562	blood:
23	chr2:38868989..38871119-chr2:38916647..38918525,3	K562	blood:
24	chr2:38879814..38882586-chr2:38892083..38894543,4	K562	blood:
25	chr2:38880141..38882510-chr2:38904571..38906681,2	K562	blood:
26	chr2:38862386..38864039-chr2:38870726..38872820,2	K562	blood:
27	chr2:38872329..38875260-chr2:38918256..38921155,2	K562	blood:
28	chr2:38866346..38869051-chr2:38869593..38871787,4	K562	blood:
29	chr2:38829011..38830871-chr2:38864426..38867339,2	MCF-7	breast:
30	chr2:38885587..38887853-chr2:38899789..38902113,2	K562	blood:
31	chr2:38867821..38870295-chr2:38895225..38897165,2	K562	blood:
32	chr2:38826787..38832652-chr2:38859055..38867252,11	K562	blood:
33	chr2:38861742..38863889-chr2:38865469..38867826,3	K562	blood:
34	chr2:38841845..38846119-chr2:38859783..38862280,3	K562	blood:
35	chr2:38881075..38882966-chr2:38882998..38885867,3	K562	blood:
36	chr2:38838640..38841229-chr2:38869315..38872620,3	K562	blood:
37	chr2:38841845..38843703-chr2:38858739..38861283,2	K562	blood:
38	chr2:38861872..38863650-chr2:38976891..38979789,2	K562	blood:
39	chr2:38827420..38830831-chr2:38879840..38883102,4	K562	blood:
40	chr2:38826349..38827886-chr2:38868902..38871204,2	K562	blood:
41	chr2:38846799..38849062-chr2:38862889..38864827,2	K562	blood:
42	chr2:38828500..38834187-chr2:38868147..38872142,7	K562	blood:
43	chr2:38857535..38860181-chr2:38880883..38883565,2	K562	blood:
44	chr2:38861742..38863266-chr2:38865469..38867826,2	K562	blood:
45	chr2:38884843..38887789-chr2:38891442..38893148,3	K562	blood:
46	chr2:38884282..38886148-chr2:38894534..38896833,2	K562	blood:
47	chr2:38856981..38859644-chr2:38870744..38873095,2	K562	blood:
48	chr2:38865694..38869051-chr2:38869356..38872589,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143889	chromatin interactions
ENSG00000232518	chromatin interactions
ENSG00000235586	chromatin interactions
ENSG00000143891	chromatin interactions
ENSG00000152147	chromatin interactions
ENSG00000115875	chromatin interactions

Extended variants
information (count: 1293 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1293 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115490242	chr2:38861121-38861122	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs113510592	chr2:38861123-38861124	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs114439169	chr2:38861150-38861151	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs188024760	chr2:38861153-38861154	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs559915023	chr2:38861160-38861161	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs57726732	chr2:38861164-38861165	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs545678533	chr2:38861203-38861204	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs193230635	chr2:38861221-38861222	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs185355099	chr2:38861226-38861227	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs529835296	chr2:38861246-38861247	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs146001982	chr2:38861255-38861256	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs34024102	chr2:38861262-38861263	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs34589117	chr2:38861264-38861265	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs71996686	chr2:38861265-38861266	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs372661309	chr2:38861266-38861267	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs35679136	chr2:38861278-38861279	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs72909837	chr2:38861339-38861340	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs190201963	chr2:38861377-38861378	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs144320939	chr2:38861380-38861381	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs567052814	chr2:38861420-38861421	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs181493101	chr2:38861424-38861425	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs552876952	chr2:38861443-38861444	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs200823161	chr2:38861487-38861488	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs397870676	chr2:38861494-38861495	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs34957902	chr2:38861501-38861502	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs117448427	chr2:38861518-38861519	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs537808838	chr2:38861546-38861547	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs555988592	chr2:38861564-38861565	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs574524531	chr2:38861571-38861572	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs570792271	chr2:38861591-38861592	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs532549672	chr2:38861619-38861620	Enhancers Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs151057796	chr2:38861646-38861647	Enhancers Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs139712023	chr2:38861688-38861689	Enhancers Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs149769706	chr2:38861689-38861690	Enhancers Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs575723161	chr2:38861705-38861706	Enhancers Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs372226674	chr2:38861706-38861707	Enhancers Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs79703199	chr2:38861798-38861799	Enhancers Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs577170151	chr2:38861808-38861809	Enhancers Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs544638210	chr2:38861817-38861818	Enhancers Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs115484867	chr2:38861908-38861909	Enhancers Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs183986975	chr2:38861912-38861913	Enhancers Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs542319750	chr2:38861929-38861930	Enhancers Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs541030524	chr2:38861964-38861965	Enhancers Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs188430329	chr2:38861973-38861974	Enhancers Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs552915642	chr2:38861997-38861998	Enhancers Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs116809657	chr2:38862022-38862023	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs531909549	chr2:38862035-38862036	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs77454589	chr2:38862103-38862104	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs567951234	chr2:38862188-38862189	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs565999651	chr2:38862190-38862191	Enhancers Weak transcription Flanking Active TSS	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
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:342 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:38835400-38862400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:38854000-38861200	Weak transcription	Primary T cells from cord blood	blood
3	chr2:38860800-38861200	Enhancers	GM12878-XiMat	blood
4	chr2:38861000-38861400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr2:38861000-38862200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr2:38861000-38862200	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr2:38861000-38862400	Enhancers	Dnd41	blood
8	chr2:38861000-38862600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:38861000-38862600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:38861000-38862600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr2:38861000-38862800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr2:38861000-38863600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:38861200-38861600	Flanking Active TSS	GM12878-XiMat	blood
14	chr2:38861200-38862000	Enhancers	Primary T cells from cord blood	blood
15	chr2:38861200-38862000	Enhancers	Hela-S3	cervix
16	chr2:38861200-38862000	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr2:38861200-38862600	Enhancers	Primary hematopoietic stem cells	blood
18	chr2:38861200-38862800	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr2:38861400-38862200	Enhancers	HepG2	liver
20	chr2:38861400-38862800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr2:38861400-38863000	Enhancers	K562	blood
22	chr2:38861600-38862000	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr2:38861600-38862000	Active TSS	GM12878-XiMat	blood
24	chr2:38861600-38862200	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr2:38861600-38862200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr2:38861800-38862000	Enhancers	Thymus	Thymus
27	chr2:38861800-38862600	Enhancers	Primary B cells from peripheral blood	blood
28	chr2:38861800-38862600	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr2:38861800-38862600	Enhancers	Fetal Thymus	thymus
30	chr2:38862000-38862400	Flanking Active TSS	GM12878-XiMat	blood
31	chr2:38862000-38862400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr2:38862000-38862800	Enhancers	Primary B cells from cord blood	blood
33	chr2:38862400-38862600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:38862400-38862800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr2:38862400-38862800	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr2:38862400-38863000	Enhancers	GM12878-XiMat	blood
37	chr2:38862600-38862800	Enhancers	Thymus	Thymus
38	chr2:38862800-38870000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr2:38862800-38870200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr2:38863000-38863200	Weak transcription	K562	blood
41	chr2:38863200-38863400	Enhancers	Stomach Mucosa	stomach
42	chr2:38863200-38863600	Enhancers	K562	blood
43	chr2:38863400-38864000	Weak transcription	Stomach Mucosa	stomach
44	chr2:38863600-38864000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr2:38863600-38869800	Weak transcription	K562	blood
46	chr2:38864000-38864200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr2:38864000-38864200	Enhancers	Stomach Mucosa	stomach
48	chr2:38864200-38865200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr2:38865200-38865800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr2:38865200-38870200	Weak transcription	Spleen	Spleen

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links