Variant report

Variant	esv1842768
Chromosome Location	chr2:189555506-189635696
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:15)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:189630030..189631002-chr2:189840905..189842141,9	MCF-7	breast:
2	chr2:189584779..189586536-chr2:189588421..189590765,2	K562	blood:
3	chr2:189560390..189562782-chr2:189566828..189569265,2	K562	blood:
4	chr2:189583743..189586666-chr2:189589000..189591672,2	MCF-7	breast:
5	chr2:189560390..189562782-chr2:189566828..189569265,2	K562	blood:
6	chr2:189470137..189473271-chr2:189629493..189632032,3	MCF-7	breast:
7	chr2:189469024..189471613-chr2:189556125..189558858,2	MCF-7	breast:
8	chr2:189629984..189631020-chr2:189842710..189843643,5	MCF-7	breast:
9	chr2:189633018..189633518-chr6:129939735..129940265,2	MCF-7	breast:
10	chr2:189629997..189630580-chr2:189842746..189843377,2	MCF-7	breast:
11	chr2:189469220..189472304-chr2:189586232..189590272,3	MCF-7	breast:
12	chr2:189583743..189586666-chr2:189589000..189591672,2	MCF-7	breast:
13	chr2:189595413..189597122-chr2:189598566..189601054,2	MCF-7	breast:
14	chr2:189584779..189586536-chr2:189588421..189590765,2	K562	blood:
15	chr2:189595413..189597122-chr2:189598566..189601054,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DIRC1-1	chr2:189611151-189611208	ENSG00000223523.1

No data

Variant related genes	Relation type
ENSG00000221502	chromatin interactions

Extended variants
information (count: 1810 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:1810 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7609469	chr2:189555506-189555507	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs111256276	chr2:189555600-189555601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532105336	chr2:189555606-189555607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs114648619	chr2:189555631-189555632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547503770	chr2:189555667-189555668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376366092	chr2:189555690-189555691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201738220	chr2:189555691-189555692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372865469	chr2:189555693-189555694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs1084169	chr2:189555697-189555698	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs548456697	chr2:189555814-189555815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569973155	chr2:189555825-189555826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533384099	chr2:189555890-189555891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537381409	chr2:189555900-189555901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552081194	chr2:189555920-189555921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184754050	chr2:189555967-189555968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538744290	chr2:189555968-189555969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565070025	chr2:189555976-189555977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1605461	chr2:189556081-189556082	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs565711166	chr2:189556093-189556094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189671853	chr2:189556099-189556100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570571560	chr2:189556115-189556116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs79901933	chr2:189556129-189556130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576320900	chr2:189556133-189556134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544142968	chr2:189556154-189556155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs146897922	chr2:189556162-189556163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181328075	chr2:189556167-189556168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139278322	chr2:189556185-189556186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559401756	chr2:189556211-189556212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369996142	chr2:189556329-189556330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529672334	chr2:189556427-189556428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561022373	chr2:189556440-189556441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185968811	chr2:189556456-189556457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189958741	chr2:189556469-189556470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537795420	chr2:189556480-189556481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs74699104	chr2:189556486-189556487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181879711	chr2:189556546-189556547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1588121	chr2:189556547-189556548	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs570523615	chr2:189556552-189556553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs147172115	chr2:189556598-189556599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186555071	chr2:189556640-189556641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs74656810	chr2:189556644-189556645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568345836	chr2:189556653-189556654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190614304	chr2:189556728-189556729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75523084	chr2:189556799-189556800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536388710	chr2:189556898-189556899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs554539959	chr2:189556944-189556945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs138700523	chr2:189556955-189556956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs370853351	chr2:189556961-189556962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs182854449	chr2:189556987-189556988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs535769027	chr2:189557153-189557154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian cancer	21720365	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Colorectal cancer	16912164	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:161 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189551000-189557200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:189555400-189560600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:189556800-189558800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:189557000-189559000	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr2:189557200-189557400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
6	chr2:189557200-189558200	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr2:189557200-189558600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr2:189557200-189559000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr2:189557400-189557800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr2:189557400-189558600	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr2:189557600-189558200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:189557600-189558600	Enhancers	H1 Cell Line	embryonic stem cell
13	chr2:189557600-189558600	Enhancers	Placenta Amnion	Placenta Amnion
14	chr2:189557600-189558600	Enhancers	NHEK	skin
15	chr2:189557600-189558800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:189557600-189558800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr2:189557600-189558800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:189557800-189558400	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr2:189557800-189558400	Enhancers	HMEC	breast
20	chr2:189557800-189558600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:189557800-189558800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr2:189557800-189558800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:189557800-189558800	Enhancers	H9 Cell Line	embryonic stem cell
24	chr2:189557800-189558800	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr2:189557800-189558800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:189558400-189560600	Weak transcription	HMEC	breast
27	chr2:189558800-189560400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:189559600-189560400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:189559600-189560800	Enhancers	Dnd41	blood
30	chr2:189560200-189561400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:189560200-189561400	Enhancers	HSMM	muscle
32	chr2:189560200-189561400	Enhancers	Osteobl	bone
33	chr2:189560400-189560800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:189560400-189560800	Enhancers	NH-A	brain
35	chr2:189560400-189561200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:189560400-189561200	Enhancers	NHDF-Ad	bronchial
37	chr2:189560400-189561400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:189560400-189561400	Enhancers	Muscle Satellite Cultured Cells	--
39	chr2:189560400-189561400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr2:189560400-189561400	Enhancers	NHLF	lung
41	chr2:189560400-189561800	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr2:189560600-189561000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr2:189560600-189561000	Enhancers	HMEC	breast
44	chr2:189560600-189561600	Enhancers	Primary T cells from cord blood	blood
45	chr2:189560600-189561800	Enhancers	Primary hematopoietic stem cells	blood
46	chr2:189560600-189562000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr2:189560800-189561200	Flanking Active TSS	Dnd41	blood
48	chr2:189560800-189561200	Flanking Active TSS	NH-A	brain
49	chr2:189560800-189561600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr2:189561200-189561800	Enhancers	NH-A	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links