Variant report

Variant	nsv960957
Chromosome Location	chr2:20076441-20079309
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:6)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:20074079..20076562-chr2:20079303..20081491,2	K562	blood:
2	chr2:20073905..20076651-chr2:20094852..20097192,2	K562	blood:
3	chr2:20067006..20069123-chr2:20072397..20077057,4	K562	blood:
4	chr2:19988181..19991165-chr2:20075631..20078217,2	K562	blood:
5	chr2:20078574..20080600-chr2:20101109..20102885,2	K562	blood:
6	chr2:20074079..20076562-chr2:20079303..20081491,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RHOB-4	chr2:20075564-20077154	ENSG00000228784
2	lnc-TTC32-1	chr2:20076651-20077164	NONHSAT069413
3	lnc-RHOB-4	chr2:20075564-20077296	ENSG00000228784
4	lnc-RHOB-4	chr2:20078997-20079961	ENSG00000228784
5	lnc-RHOB-4	chr2:20078997-20079961	NONHSAT069409
6	lnc-RHOB-4	chr2:20078997-20079961	XLOC_001379

No data

Variant related genes	Relation type
ENSG00000183891	chromatin interactions
ENSG00000271991	chromatin interactions
ENSG00000228784	chromatin interactions
SUPT7L	miRNA target sites
POU4F2	miRNA target sites
MRC2	miRNA target sites

Extended variants
information (count: 136 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:136 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143670765	chr2:20076441-20076442	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
2	rs3731669	chr2:20076454-20076455	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs532715358	chr2:20076525-20076526	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs529584378	chr2:20076538-20076539	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs146825874	chr2:20076603-20076604	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs533478757	chr2:20076748-20076749	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs373179897	chr2:20076769-20076770	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs559256201	chr2:20076774-20076775	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs6531201	chr2:20076789-20076790	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs140995774	chr2:20076850-20076851	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs372990610	chr2:20076855-20076856	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs12470023	chr2:20076857-20076858	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs551027302	chr2:20076897-20076898	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs566878651	chr2:20076906-20076907	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs530552072	chr2:20076912-20076913	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs5021924	chr2:20076971-20076972	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs75208912	chr2:20076985-20076986	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs78313967	chr2:20076988-20076989	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs374636691	chr2:20077039-20077040	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs534714133	chr2:20077091-20077092	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs368580396	chr2:20077154-20077155	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs59657792	chr2:20077167-20077168	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs536499768	chr2:20077196-20077197	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs546585329	chr2:20077208-20077209	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs566027561	chr2:20077230-20077231	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs386643811	chr2:20077263-20077264	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs535037753	chr2:20077327-20077328	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558209225	chr2:20077383-20077384	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs578134100	chr2:20077394-20077395	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188316244	chr2:20077408-20077409	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557530296	chr2:20077415-20077416	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs71391742	chr2:20077458-20077459	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574157166	chr2:20077473-20077474	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543266312	chr2:20077480-20077481	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs75676915	chr2:20077490-20077491	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79723004	chr2:20077504-20077505	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544583851	chr2:20077582-20077583	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562533540	chr2:20077595-20077596	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368507302	chr2:20077596-20077597	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527802910	chr2:20077600-20077601	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541259330	chr2:20077604-20077605	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs76005299	chr2:20077607-20077608	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs74344103	chr2:20077608-20077609	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561095133	chr2:20077627-20077628	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567852877	chr2:20077632-20077633	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs6746710	chr2:20077638-20077639	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs13034115	chr2:20077653-20077654	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566631365	chr2:20077657-20077658	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535252440	chr2:20077664-20077665	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538971924	chr2:20077676-20077677	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	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
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	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
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	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
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	20607354	CNVD
Neuroblastoma	19638189	CNVD
Neuroblastoma	19435921	CNVD
Neuroblastoma	18574593	CNVD
Acute myeloid leukemia	18000384	CNVD
Medulloblastoma	16968546	CNVD
Medulloblastoma	22160402	CNVD
Schizophrenia	22118685	CNVD
Epilepsy	22118685	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21509527	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	17908972	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	18765546	CNVD
Neuroblastoma	18281664	CNVD
Neuroblastoma	17289879	CNVD
Neuroblastoma	19738985	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20068800-20086200	Weak transcription	Spleen	Spleen
2	chr2:20068800-20097200	Weak transcription	Aorta	Aorta
3	chr2:20069000-20098200	Weak transcription	Right Atrium	heart
4	chr2:20069200-20077600	Weak transcription	Fetal Lung	lung
5	chr2:20069400-20078600	Weak transcription	Placenta	Placenta
6	chr2:20069600-20079000	Weak transcription	NHDF-Ad	bronchial
7	chr2:20069600-20079800	Weak transcription	Lung	lung
8	chr2:20069600-20087800	Weak transcription	Gastric	stomach
9	chr2:20069800-20079200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr2:20069800-20097200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:20070000-20078000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr2:20070000-20081400	Weak transcription	Esophagus	oesophagus
13	chr2:20071400-20076800	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr2:20071400-20076800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr2:20071400-20081800	Strong transcription	Primary T cells from cord blood	blood
16	chr2:20071800-20079200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr2:20072200-20077000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr2:20072200-20084000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr2:20072600-20076600	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr2:20072800-20076800	Strong transcription	Fetal Muscle Trunk	muscle
21	chr2:20074000-20076800	Strong transcription	Fetal Intestine Large	intestine
22	chr2:20074200-20076800	Strong transcription	Primary B cells from cord blood	blood
23	chr2:20074400-20078400	Strong transcription	Fetal Stomach	stomach
24	chr2:20074800-20077400	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr2:20075000-20076600	Strong transcription	Primary B cells from peripheral blood	blood
26	chr2:20075400-20076800	Strong transcription	Fetal Thymus	thymus
27	chr2:20075400-20076800	Strong transcription	Thymus	Thymus
28	chr2:20075400-20097600	Weak transcription	Fetal Kidney	kidney
29	chr2:20075600-20076800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr2:20075800-20076600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:20075800-20076600	Strong transcription	Fetal Muscle Leg	muscle
32	chr2:20076000-20076600	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr2:20076000-20076600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr2:20076000-20076600	Weak transcription	Fetal Intestine Small	intestine
35	chr2:20076000-20076800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr2:20076200-20076600	Strong transcription	Primary hematopoietic stem cells	blood
37	chr2:20076200-20078000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr2:20076400-20076600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr2:20076400-20093600	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr2:20076400-20097200	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr2:20076600-20076800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:20076600-20078800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr2:20076600-20079200	Strong transcription	Fetal Intestine Small	intestine
44	chr2:20076600-20082800	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr2:20076600-20085200	Weak transcription	Primary B cells from peripheral blood	blood
46	chr2:20076600-20087000	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr2:20076600-20097400	Weak transcription	Primary hematopoietic stem cells	blood
48	chr2:20076600-20098200	Weak transcription	Fetal Muscle Leg	muscle
49	chr2:20076800-20078400	Weak transcription	Thymus	Thymus
50	chr2:20076800-20082000	Weak transcription	Primary T helper cells fromperipheralblood	blood

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