Variant report

Variant	esv1803488
Chromosome Location	chr2:32084099-32096450
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:19)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:32085200..32088455-chr2:32233437..32237135,3	MCF-7	breast:
2	chr2:32088387..32090798-chr2:32092413..32095435,3	K562	blood:
3	chr2:32089298..32091875-chr2:32092572..32095096,3	K562	blood:
4	chr2:32085863..32087397-chr2:32093590..32095121,2	K562	blood:
5	chr2:32088387..32090798-chr2:32092413..32095435,3	K562	blood:
6	chr2:32087519..32090155-chr2:32438272..32440632,2	K562	blood:
7	chr2:32080112..32081712-chr2:32087402..32089721,2	K562	blood:
8	chr2:32088632..32090379-chr2:32095792..32097490,2	K562	blood:
9	chr2:32083240..32085209-chr2:32102107..32103785,2	MCF-7	breast:
10	chr2:32091313..32092839-chr2:32101688..32104174,2	K562	blood:
11	chr2:32088632..32090379-chr2:32095792..32097490,2	K562	blood:
12	chr2:32081588..32083600-chr2:32085276..32086827,2	MCF-7	breast:
13	chr2:32078437..32080581-chr2:32084473..32087035,2	K562	blood:
14	chr2:32095703..32097989-chr2:32101903..32104757,2	MCF-7	breast:
15	chr2:32093709..32096203-chr2:32099619..32101858,2	MCF-7	breast:
16	chr2:32085863..32087397-chr2:32093590..32095121,2	K562	blood:
17	chr2:32077985..32079821-chr2:32081346..32084219,3	K562	blood:
18	chr2:32078476..32081428-chr2:32085557..32087157,3	K562	blood:
19	chr2:32089298..32091875-chr2:32092572..32095096,3	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DPY30-4	chr2:32092272-32092722	NONHSAT069957
2	lnc-DPY30-4	chr2:32089719-32090353	NONHSAT069957
3	lnc-DPY30-4	chr2:32088451-32089529	NONHSAT069957
4	lnc-DPY30-4	chr2:32087424-32087746	NONHSAT069957
5	lnc-DPY30-4	chr2:32086885-32086912	NONHSAT069957
6	lnc-DPY30-4	chr2:32086931-32087362	NONHSAT069957

No data

Variant related genes	Relation type
ENSG00000162959	chromatin interactions
ENSG00000201113	chromatin interactions
ENSG00000273165	chromatin interactions

Extended variants
information (count: 427 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17011651	chr2:32084099-32084100	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs567790874	chr2:32084128-32084129	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs71446025	chr2:32084129-32084130	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs180715640	chr2:32084225-32084226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs76113433	chr2:32084268-32084269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534405086	chr2:32084397-32084398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138261957	chr2:32084403-32084404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185104966	chr2:32084426-32084427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537380498	chr2:32084427-32084428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557652279	chr2:32084494-32084495	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs556877120	chr2:32084509-32084510	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs572865144	chr2:32084540-32084541	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs34926474	chr2:32084564-32084565	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs189911743	chr2:32084574-32084575	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs143858238	chr2:32084594-32084595	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs147267325	chr2:32084600-32084601	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs138842893	chr2:32084607-32084608	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs542337826	chr2:32084635-32084636	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs974229	chr2:32084711-32084712	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs574559074	chr2:32084741-32084742	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs543217021	chr2:32084785-32084786	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs557760398	chr2:32084845-32084846	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs563621084	chr2:32084861-32084862	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs6543643	chr2:32084862-32084863	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs540407879	chr2:32084912-32084913	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs149402186	chr2:32084917-32084918	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs558920222	chr2:32084918-32084919	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs144812832	chr2:32084923-32084924	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs148560177	chr2:32084963-32084964	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs568030874	chr2:32085002-32085003	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs13000383	chr2:32085030-32085031	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs144460878	chr2:32085046-32085047	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs550850693	chr2:32085074-32085075	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs571131506	chr2:32085106-32085107	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs182700065	chr2:32085147-32085148	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs146157314	chr2:32085209-32085210	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs139796977	chr2:32085273-32085274	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs186713212	chr2:32085282-32085283	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs59852827	chr2:32085323-32085324	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs567119921	chr2:32085375-32085376	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs143195173	chr2:32085384-32085385	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs543614442	chr2:32085406-32085407	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs192016030	chr2:32085434-32085435	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs529372731	chr2:32085486-32085487	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs577115103	chr2:32085487-32085488	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs151164982	chr2:32085539-32085540	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs558960856	chr2:32085674-32085675	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs60605926	chr2:32085685-32085686	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs547756898	chr2:32085720-32085721	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs561826502	chr2:32085739-32085740	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
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
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
Medulloblastoma	16968546	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	16740712	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	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
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32054600-32090400	Weak transcription	HSMM	muscle
2	chr2:32057200-32117200	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr2:32061600-32172800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr2:32063000-32092000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:32064600-32142400	Weak transcription	NHDF-Ad	bronchial
6	chr2:32065000-32084800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:32065400-32088400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:32065400-32123000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr2:32066600-32100600	Weak transcription	Primary T cells from cord blood	blood
10	chr2:32066800-32101800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr2:32066800-32103400	Weak transcription	Fetal Thymus	thymus
12	chr2:32067000-32106200	Weak transcription	Left Ventricle	heart
13	chr2:32067200-32106000	Weak transcription	Fetal Muscle Leg	muscle
14	chr2:32067600-32089600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr2:32067800-32092000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:32067800-32103400	Weak transcription	HMEC	breast
17	chr2:32068000-32088600	Weak transcription	NH-A	brain
18	chr2:32068000-32121400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr2:32068400-32088600	Weak transcription	Liver	Liver
20	chr2:32068400-32089200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:32068400-32106800	Weak transcription	Ovary	ovary
22	chr2:32068400-32115400	Weak transcription	NHEK	skin
23	chr2:32068400-32121400	Weak transcription	Fetal Brain Female	brain
24	chr2:32068600-32088800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:32068600-32089600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr2:32068600-32100200	Weak transcription	A549	lung
27	chr2:32068600-32101800	Weak transcription	Primary hematopoietic stem cells	blood
28	chr2:32068800-32101000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:32068800-32106800	Weak transcription	Fetal Muscle Trunk	muscle
30	chr2:32069000-32116600	Weak transcription	Osteobl	bone
31	chr2:32070600-32086800	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr2:32071000-32115400	Weak transcription	Placenta	Placenta
33	chr2:32071200-32089200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr2:32071400-32106000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr2:32071600-32106000	Weak transcription	Fetal Stomach	stomach
36	chr2:32071800-32116000	Weak transcription	Duodenum Mucosa	Duodenum
37	chr2:32072600-32101800	Weak transcription	Fetal Intestine Small	intestine
38	chr2:32072600-32111800	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr2:32073000-32091400	Weak transcription	Pancreas	Pancrea
40	chr2:32073200-32085200	Weak transcription	HUVEC	blood vessel
41	chr2:32073200-32102000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr2:32073600-32103000	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr2:32074200-32095200	Weak transcription	Colon Smooth Muscle	Colon
44	chr2:32074600-32127000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:32075800-32170000	Weak transcription	Aorta	Aorta
46	chr2:32077200-32115000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr2:32077200-32116400	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr2:32078200-32101800	Weak transcription	HSMMtube	muscle
49	chr2:32078400-32101800	Weak transcription	Fetal Intestine Large	intestine
50	chr2:32079800-32106400	Weak transcription	Primary T helper cells fromperipheralblood	blood

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