Variant report

Variant	esv14023
Chromosome Location	chr2:38871950-38882521
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:38880141..38882510-chr2:38904571..38906681,2	K562	blood:
2	chr2:38879814..38882586-chr2:38892083..38894543,4	K562	blood:
3	chr2:38862386..38864039-chr2:38870726..38872820,2	K562	blood:
4	chr2:38856981..38859644-chr2:38870744..38873095,2	K562	blood:
5	chr2:38872329..38875260-chr2:38918256..38921155,2	K562	blood:
6	chr2:38822264..38824489-chr2:38870337..38872562,2	K562	blood:
7	chr2:38872328..38874497-chr2:38976004..38978659,2	K562	blood:
8	chr2:38857535..38860181-chr2:38880883..38883565,2	K562	blood:
9	chr2:38838640..38841229-chr2:38869315..38872620,3	K562	blood:
10	chr2:38825926..38832179-chr2:38868147..38876106,18	K562	blood:
11	chr2:38827470..38830831-chr2:38880188..38882467,3	K562	blood:
12	chr2:38828597..38830745-chr2:38876440..38878002,2	K562	blood:
13	chr2:38881069..38883433-chr2:38890460..38892656,2	K562	blood:
14	chr2:38850061..38855322-chr2:38870938..38874508,5	K562	blood:
15	chr2:38827420..38830831-chr2:38879840..38883102,4	K562	blood:
16	chr2:38828500..38834187-chr2:38868147..38872142,7	K562	blood:
17	chr2:38879772..38882593-chr2:38978947..38981476,2	K562	blood:
18	chr2:38876173..38878521-chr2:38919650..38921533,2	MCF-7	breast:
19	chr2:38865694..38869051-chr2:38869356..38872589,6	K562	blood:
20	chr2:38881075..38882966-chr2:38882998..38885867,3	K562	blood:

No data

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

Extended variants
information (count: 564 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:564 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12105066	chr2:38871950-38871951	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs563721846	chr2:38871954-38871955	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs577316850	chr2:38871956-38871957	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs531320283	chr2:38871965-38871966	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs189951453	chr2:38871976-38871977	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs567915744	chr2:38872015-38872016	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs113318740	chr2:38872020-38872021	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs559382483	chr2:38872031-38872032	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs386645144	chr2:38872065-38872066	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs7566698	chr2:38872066-38872067	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs551438985	chr2:38872073-38872074	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs79535234	chr2:38872097-38872098	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs372175667	chr2:38872098-38872099	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs533651270	chr2:38872109-38872110	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs181250659	chr2:38872157-38872158	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs556654949	chr2:38872160-38872161	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs574866950	chr2:38872169-38872170	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs542106026	chr2:38872207-38872208	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs114712915	chr2:38872214-38872215	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs572683964	chr2:38872216-38872217	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs75902286	chr2:38872247-38872248	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs186348775	chr2:38872248-38872249	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs531160415	chr2:38872263-38872264	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs543121891	chr2:38872288-38872289	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs551932233	chr2:38872296-38872297	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs561484232	chr2:38872304-38872305	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs528963657	chr2:38872323-38872324	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs547313696	chr2:38872337-38872338	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs189735523	chr2:38872353-38872354	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs533100471	chr2:38872378-38872379	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs551656924	chr2:38872390-38872391	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs180750311	chr2:38872393-38872394	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs538283262	chr2:38872413-38872414	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs556594154	chr2:38872437-38872438	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs200301982	chr2:38872438-38872439	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs570220071	chr2:38872444-38872445	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs535927455	chr2:38872451-38872452	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs367614010	chr2:38872454-38872455	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs554087504	chr2:38872459-38872460	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs572571398	chr2:38872465-38872466	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs371411235	chr2:38872475-38872476	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs538077491	chr2:38872476-38872477	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs576317119	chr2:38872477-38872478	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs564099463	chr2:38872498-38872499	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs556017898	chr2:38872499-38872500	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs201280911	chr2:38872502-38872503	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs186329828	chr2:38872507-38872508	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs528996859	chr2:38872508-38872509	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs74855667	chr2:38872520-38872521	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs34856391	chr2:38872541-38872542	Weak transcription Enhancers	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
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:219 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:38869600-38872200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr2:38870200-38872200	Enhancers	Primary hematopoietic stem cells	blood
3	chr2:38870400-38872200	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr2:38870600-38872000	Flanking Active TSS	K562	blood
5	chr2:38870600-38872400	Enhancers	Thymus	Thymus
6	chr2:38870800-38877800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:38870800-38881600	Weak transcription	Spleen	Spleen
8	chr2:38871200-38872200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr2:38871200-38872200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr2:38871200-38874400	Weak transcription	HepG2	liver
11	chr2:38871200-38880800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr2:38871400-38872000	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr2:38871400-38872000	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr2:38871400-38872200	Enhancers	Primary T cells fromperipheralblood	blood
15	chr2:38871400-38872200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr2:38871400-38872200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr2:38871400-38872200	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr2:38871400-38872200	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr2:38871400-38872200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr2:38871400-38872200	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr2:38871400-38872200	Enhancers	Fetal Thymus	thymus
22	chr2:38871400-38872400	Enhancers	Dnd41	blood
23	chr2:38871400-38873400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:38871600-38875000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr2:38871800-38872200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr2:38871800-38875000	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr2:38872000-38873200	Weak transcription	K562	blood
28	chr2:38872000-38875000	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr2:38872000-38875200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr2:38872200-38875000	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr2:38872200-38875000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr2:38872200-38875000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr2:38872200-38875000	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr2:38872200-38875000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr2:38872200-38875000	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr2:38872200-38875000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr2:38872200-38875000	Weak transcription	Fetal Thymus	thymus
38	chr2:38872200-38875200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr2:38872200-38875200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr2:38872200-38875200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr2:38872200-38875400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr2:38872400-38872800	Weak transcription	Thymus	Thymus
43	chr2:38872400-38875000	Weak transcription	Dnd41	blood
44	chr2:38872800-38873400	Enhancers	Thymus	Thymus
45	chr2:38873000-38873400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr2:38873200-38873400	Enhancers	Hela-S3	cervix
47	chr2:38873200-38879600	Enhancers	K562	blood
48	chr2:38873400-38875000	Weak transcription	Hela-S3	cervix
49	chr2:38873400-38875200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr2:38873400-38875200	Weak transcription	Thymus	Thymus

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