Variant report

Variant	esv2421758
Chromosome Location	chr2:38873799-38881106
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:38828597..38830745-chr2:38876440..38878002,2	K562	blood:
2	chr2:38827420..38830831-chr2:38879840..38883102,4	K562	blood:
3	chr2:38879814..38882586-chr2:38892083..38894543,4	K562	blood:
4	chr2:38850061..38855322-chr2:38870938..38874508,5	K562	blood:
5	chr2:38857535..38860181-chr2:38880883..38883565,2	K562	blood:
6	chr2:38881069..38883433-chr2:38890460..38892656,2	K562	blood:
7	chr2:38827470..38830831-chr2:38880188..38882467,3	K562	blood:
8	chr2:38880141..38882510-chr2:38904571..38906681,2	K562	blood:
9	chr2:38879772..38882593-chr2:38978947..38981476,2	K562	blood:
10	chr2:38876173..38878521-chr2:38919650..38921533,2	MCF-7	breast:
11	chr2:38872329..38875260-chr2:38918256..38921155,2	K562	blood:
12	chr2:38825926..38832179-chr2:38868147..38876106,18	K562	blood:
13	chr2:38881075..38882966-chr2:38882998..38885867,3	K562	blood:
14	chr2:38872328..38874497-chr2:38976004..38978659,2	K562	blood:

No data

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

Extended variants
information (count: 376 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:376 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534992756	chr2:38873799-38873800	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs72913645	chr2:38873808-38873809	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs141726822	chr2:38873819-38873820	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs150861647	chr2:38873838-38873839	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs557053682	chr2:38873848-38873849	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs113598098	chr2:38873861-38873862	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs542850717	chr2:38873875-38873876	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs117387321	chr2:38873880-38873881	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs138390708	chr2:38873890-38873891	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs370805123	chr2:38873899-38873900	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs193053729	chr2:38873926-38873927	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs573260876	chr2:38873929-38873930	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs35581112	chr2:38873943-38873944	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs533119504	chr2:38873945-38873946	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs35378647	chr2:38873965-38873966	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs371667956	chr2:38874102-38874103	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs79224157	chr2:38874105-38874106	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs79788521	chr2:38874115-38874116	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs201276277	chr2:38874117-38874118	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs79258523	chr2:38874119-38874120	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs67082593	chr2:38874120-38874121	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs367834494	chr2:38874121-38874122	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs529447350	chr2:38874127-38874128	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs185467941	chr2:38874157-38874158	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs374973177	chr2:38874161-38874162	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs6733950	chr2:38874177-38874178	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs77840079	chr2:38874178-38874179	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs78602842	chr2:38874179-38874180	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs558679938	chr2:38874188-38874189	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs576972197	chr2:38874224-38874225	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs528801894	chr2:38874234-38874235	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs558725060	chr2:38874360-38874361	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs563167130	chr2:38874367-38874368	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs546929090	chr2:38874453-38874454	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs114959183	chr2:38874460-38874461	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs143888582	chr2:38874510-38874511	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs551347143	chr2:38874512-38874513	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs190032246	chr2:38874522-38874523	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs568998138	chr2:38874529-38874530	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs72795167	chr2:38874552-38874553	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs535948247	chr2:38874581-38874582	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs554762961	chr2:38874608-38874609	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs572906692	chr2:38874671-38874672	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs541120172	chr2:38874694-38874695	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs371318732	chr2:38874713-38874714	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs147247253	chr2:38874715-38874716	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs558466121	chr2:38874721-38874722	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs576724130	chr2:38874723-38874724	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs545028555	chr2:38874757-38874758	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs563327969	chr2:38874766-38874767	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	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:174 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:38870800-38877800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:38870800-38881600	Weak transcription	Spleen	Spleen
3	chr2:38871200-38874400	Weak transcription	HepG2	liver
4	chr2:38871200-38880800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr2:38871600-38875000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr2:38871800-38875000	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr2:38872000-38875000	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr2:38872000-38875200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr2:38872200-38875000	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr2:38872200-38875000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr2:38872200-38875000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr2:38872200-38875000	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr2:38872200-38875000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr2:38872200-38875000	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr2:38872200-38875000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr2:38872200-38875000	Weak transcription	Fetal Thymus	thymus
17	chr2:38872200-38875200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr2:38872200-38875200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr2:38872200-38875200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr2:38872200-38875400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:38872400-38875000	Weak transcription	Dnd41	blood
22	chr2:38873200-38879600	Enhancers	K562	blood
23	chr2:38873400-38875000	Weak transcription	Hela-S3	cervix
24	chr2:38873400-38875200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:38873400-38875200	Weak transcription	Thymus	Thymus
26	chr2:38873400-38878400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr2:38873800-38874600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr2:38874400-38875200	Enhancers	HepG2	liver
29	chr2:38874600-38880800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr2:38875000-38875200	Enhancers	Dnd41	blood
31	chr2:38875000-38875800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr2:38875000-38875800	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr2:38875000-38875800	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr2:38875000-38875800	Enhancers	Hela-S3	cervix
35	chr2:38875000-38875800	Enhancers	HMEC	breast
36	chr2:38875000-38876000	Enhancers	Primary T cells fromperipheralblood	blood
37	chr2:38875000-38876000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr2:38875000-38876000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr2:38875000-38876000	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr2:38875000-38876000	Enhancers	Fetal Thymus	thymus
41	chr2:38875000-38876200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr2:38875000-38876200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr2:38875000-38876200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr2:38875000-38876400	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
45	chr2:38875000-38877600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
46	chr2:38875200-38875600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr2:38875200-38875600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr2:38875200-38875600	ZNF genes & repeats	Thymus	Thymus
49	chr2:38875200-38875600	Flanking Active TSS	HepG2	liver
50	chr2:38875200-38875800	Enhancers	Primary B cells from peripheral blood	blood

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