Variant report

Variant	nsv1003376
Chromosome Location	chr2:31889934-32022595
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:18)
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	chr2:32017633..32020047-chr2:32030093..32031981,2	MCF-7	breast:
2	chr2:31930983..31932586-chr2:31934508..31937402,2	K562	blood:
3	chr2:31900447..31901315-chr2:31954441..31955376,2	MCF-7	breast:
4	chr2:31989970..31994045-chr2:31995524..31998361,3	K562	blood:
5	chr2:31989970..31994045-chr2:31995524..31998361,3	K562	blood:
6	chr2:31989970..31992552-chr2:31995524..31998361,2	K562	blood:
7	chr2:31997008..31999119-chr2:32002900..32004751,2	K562	blood:
8	chr2:32001763..32003551-chr2:32004444..32006293,2	K562	blood:
9	chr2:31930983..31932586-chr2:31934508..31937402,2	K562	blood:
10	chr2:31909066..31910912-chr2:31917337..31919899,2	K562	blood:
11	chr2:31900447..31901315-chr2:31954441..31955376,2	MCF-7	breast:
12	chr2:32001763..32003551-chr2:32004444..32006293,2	K562	blood:
13	chr2:31989970..31992552-chr2:31995524..31998361,2	K562	blood:
14	chr2:31997008..31999119-chr2:32002900..32004751,2	K562	blood:
15	chr2:31970053..31972527-chr2:32030742..32033629,2	K562	blood:
16	chr2:31609265..31610186-chr2:31954524..31955433,2	MCF-7	breast:
17	chr2:31909066..31910912-chr2:31917337..31919899,2	K562	blood:
18	chr2:31931339..31933417-chr2:31949272..31951087,2	MCF-7	breast:
19	chr2:32017553..32019913-chr2:32027269..32030154,2	K562	blood:
20	chr2:31931339..31933417-chr2:31949272..31951087,2	MCF-7	breast:

(count:18 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DPY30-3	chr2:31911772-31911807	NONHSAT069950
2	lnc-DPY30-3	chr2:31890678-31890696	NONHSAT069944
3	lnc-DPY30-3	chr2:31935275-31935337	XLOC_002042
4	lnc-DPY30-2	chr2:31990951-31991045	NONHSAT069953
5	lnc-DPY30-3	chr2:31935252-31935337	NONHSAT069950
6	lnc-DPY30-3	chr2:31990118-31990220	XLOC_002042
7	lnc-DPY30-2	chr2:31997832-31997991	XLOC_002043
8	lnc-DPY30-1	chr2:32019167-32019174	XLOC_002044
9	lnc-DPY30-1	chr2:32019288-32019412	XLOC_002044
10	lnc-DPY30-1	chr2:32018892-32018984	XLOC_002044
11	lnc-DPY30-2	chr2:31991639-31991799	FPKM1_group_15695_transcript_1
12	lnc-DPY30-3	chr2:31935252-31935407	NONHSAT069942
13	lnc-DPY30-2	chr2:31990951-31991045	FPKM1_group_15695_transcript_1
14	lnc-DPY30-2	chr2:31990952-31991045	XLOC_002043
15	lnc-DPY30-3	chr2:31892421-31892463	NONHSAT069943
16	lnc-DPY30-2	chr2:31997831-31997991	NONHSAT069953
17	lnc-DPY30-3	chr2:31990118-31990198	NONHSAT069950
18	lnc-DPY30-3	chr2:31990312-31990384	XLOC_002042

No data

Variant related genes	Relation type
ENSG00000223647	chromatin interactions
CDKN1A	miRNA target sites
HBP1	miRNA target sites

Extended variants
information (count: 2301 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:2301 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543540777	chr2:31890044-31890045	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs187778773	chr2:31890055-31890056	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs532766408	chr2:31890064-31890065	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs546035904	chr2:31890127-31890128	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs114888859	chr2:31890128-31890129	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs531267270	chr2:31890131-31890132	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs528832678	chr2:31890140-31890141	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs56039529	chr2:31890232-31890233	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs568493052	chr2:31890236-31890237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs7589579	chr2:31890237-31890238	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs551068834	chr2:31890303-31890304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570829335	chr2:31890309-31890310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs36025700	chr2:31890321-31890322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs192444470	chr2:31890375-31890376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148223416	chr2:31890443-31890444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532159060	chr2:31890450-31890451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs552128369	chr2:31890480-31890481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs565535491	chr2:31890520-31890521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185816111	chr2:31890522-31890523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554429250	chr2:31890538-31890539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs114052605	chr2:31890557-31890558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536616921	chr2:31890639-31890640	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs557024751	chr2:31890658-31890659	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs60857584	chr2:31890660-31890661	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs141233999	chr2:31890753-31890754	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs539639126	chr2:31890768-31890769	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs74391478	chr2:31890769-31890770	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs7563475	chr2:31890782-31890783	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs200807617	chr2:31890786-31890787	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs189124907	chr2:31890794-31890795	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs560032482	chr2:31890831-31890832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs566028027	chr2:31890835-31890836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs115125463	chr2:31890851-31890852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs140510098	chr2:31890903-31890904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs542572557	chr2:31890985-31890986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs372121983	chr2:31890986-31890987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs192802976	chr2:31890994-31890995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs559349536	chr2:31890995-31890996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs73925165	chr2:31891015-31891016	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs184572728	chr2:31891017-31891018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs147411155	chr2:31891020-31891021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs188591482	chr2:31891039-31891040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs181429508	chr2:31891049-31891050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs534478228	chr2:31891076-31891077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs367796022	chr2:31891111-31891112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs529650547	chr2:31891139-31891140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs148895020	chr2:31891169-31891170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs548103086	chr2:31891173-31891174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs567970313	chr2:31891200-31891201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs569849218	chr2:31891226-31891227	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
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
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
Myxofibrosarcoma	16751306	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
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Non-syndromic sensorineural hearing loss	22037309	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:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31889600-31890200	Flanking Active TSS	Liver	Liver
2	chr2:31890200-31890600	Enhancers	Liver	Liver
3	chr2:31890600-31890800	Flanking Active TSS	Liver	Liver
4	chr2:31890800-31892800	Enhancers	Liver	Liver
5	chr2:31891400-31892400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr2:31899400-31902400	ZNF genes & repeats	Liver	Liver
7	chr2:31900200-31901200	Enhancers	H9 Cell Line	embryonic stem cell
8	chr2:31900200-31901400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:31900400-31901400	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr2:31900400-31901400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr2:31900600-31901600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr2:31900600-31901800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:31901200-31901600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr2:31901600-31904600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr2:31904600-31904800	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
16	chr2:31908200-31909200	Enhancers	HepG2	liver
17	chr2:31908400-31924200	ZNF genes & repeats	Liver	Liver
18	chr2:31908800-31909200	ZNF genes & repeats	Gastric	stomach
19	chr2:31914000-31919200	Weak transcription	Fetal Heart	heart
20	chr2:31917200-31920600	ZNF genes & repeats	Adipose Nuclei	Adipose
21	chr2:31917800-31920000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
22	chr2:31917800-31920200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
23	chr2:31918800-31919200	ZNF genes & repeats	Aorta	Aorta
24	chr2:31918800-31919200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
25	chr2:31918800-31919400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:31919000-31919600	ZNF genes & repeats	Brain Anterior Caudate	brain
27	chr2:31919200-31919600	Active TSS	Fetal Heart	heart
28	chr2:31919200-31920200	ZNF genes & repeats	Brain Substantia Nigra	brain
29	chr2:31924200-31927800	Weak transcription	Liver	Liver
30	chr2:31927800-31928000	Enhancers	Liver	Liver
31	chr2:31928000-31928200	Flanking Active TSS	Liver	Liver
32	chr2:31928000-31928200	ZNF genes & repeats	Gastric	stomach
33	chr2:31928200-31928800	Enhancers	Liver	Liver
34	chr2:31928200-31931000	Weak transcription	Gastric	stomach
35	chr2:31928800-31929600	Flanking Active TSS	Liver	Liver
36	chr2:31928800-31931400	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr2:31929200-31931600	Enhancers	Adipose Nuclei	Adipose
38	chr2:31929400-31930400	Enhancers	HepG2	liver
39	chr2:31929600-31930200	Enhancers	Liver	Liver
40	chr2:31929800-31930400	Enhancers	Fetal Intestine Large	intestine
41	chr2:31930200-31930400	Flanking Active TSS	Liver	Liver
42	chr2:31930400-31930600	Enhancers	Liver	Liver
43	chr2:31930600-31930800	Flanking Active TSS	Liver	Liver
44	chr2:31930800-31933200	Enhancers	Liver	Liver
45	chr2:31931000-31931600	Enhancers	Gastric	stomach
46	chr2:31933000-31933400	Enhancers	HepG2	liver
47	chr2:31933200-31933600	Flanking Active TSS	Liver	Liver
48	chr2:31933600-31933800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr2:31933600-31935400	Active TSS	Liver	Liver
50	chr2:31935400-31937000	Enhancers	Liver	Liver

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