Variant report

Variant	nsv873661
Chromosome Location	chr2:10675549-10703476
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:30)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:10697686..10698232-chr2:10799865..10800609,2	MCF-7	breast:
2	chr2:10586592..10589799-chr2:10701839..10704499,3	K562	blood:
3	chr2:10677985..10680964-chr2:10684522..10686186,2	K562	blood:
4	chr2:10692099..10694408-chr2:10696409..10700147,3	MCF-7	breast:
5	chr2:10578009..10580589-chr2:10689123..10691393,2	K562	blood:
6	chr2:10587804..10589799-chr2:10701094..10703339,3	K562	blood:
7	chr2:10688125..10690392-chr2:10697109..10699588,2	K562	blood:
8	chr2:10586791..10590396-chr2:10688660..10691536,3	K562	blood:
9	chr2:10699769..10703142-chr2:10704473..10707229,3	K562	blood:
10	chr2:10673867..10676091-chr2:10699484..10701243,2	K562	blood:
11	chr2:10579413..10581262-chr2:10676249..10678549,2	K562	blood:
12	chr2:10691848..10694045-chr2:10699355..10701357,2	K562	blood:
13	chr2:10692099..10694408-chr2:10696409..10700147,3	MCF-7	breast:
14	chr2:10636415..10638376-chr2:10688711..10690452,2	K562	blood:
15	chr2:10690817..10693702-chr2:10693915..10697831,3	K562	blood:
16	chr2:10575377..10577320-chr2:10689005..10690678,2	K562	blood:
17	chr2:10677985..10680964-chr2:10684522..10686186,2	K562	blood:
18	chr2:10692833..10694594-chr2:10798213..10800858,2	MCF-7	breast:
19	chr2:10703297..10704818-chr2:10710965..10713487,2	K562	blood:
20	chr2:10660893..10663493-chr2:10697519..10700150,2	K562	blood:
21	chr2:10691848..10694045-chr2:10699355..10701357,2	K562	blood:
22	chr2:10673867..10676091-chr2:10699484..10701243,2	K562	blood:
23	chr2:10588254..10590396-chr2:10688188..10690335,2	K562	blood:
24	chr2:10690817..10693702-chr2:10693915..10697831,3	K562	blood:
25	chr2:10587055..10588827-chr2:10683720..10686701,2	K562	blood:
26	chr2:10586794..10589703-chr2:10696395..10698624,4	K562	blood:
27	chr2:10688125..10690392-chr2:10697109..10699588,2	K562	blood:
28	chr2:10586888..10589074-chr2:10691041..10693850,2	K562	blood:
29	chr2:10660141..10662446-chr2:10692139..10693932,2	MCF-7	breast:
30	chr2:10584220..10586892-chr2:10686951..10688711,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HPCAL1-2	chr2:10702418-10702867	NONHSAT069120

No data

Variant related genes	Relation type
ENSG00000257135	chromatin interactions
ENSG00000206633	chromatin interactions
ENSG00000115758	chromatin interactions

Extended variants
information (count: 1337 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1337 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1641153	chr2:10675549-10675550	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs185384507	chr2:10675557-10675558	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs543660392	chr2:10675578-10675579	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs138693528	chr2:10675583-10675584	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs529605549	chr2:10675691-10675692	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs375143026	chr2:10675702-10675703	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs187308768	chr2:10675708-10675709	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs73180578	chr2:10675718-10675719	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs1728144	chr2:10675741-10675742	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs1728145	chr2:10675764-10675765	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs117203443	chr2:10675770-10675771	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs550059457	chr2:10675775-10675776	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs527890851	chr2:10675780-10675781	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs191841386	chr2:10675800-10675801	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs143700785	chr2:10675821-10675822	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
16	rs554240035	chr2:10675828-10675829	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
17	rs2270310	chr2:10675831-10675832	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs375945009	chr2:10675855-10675856	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
19	rs539590990	chr2:10675860-10675861	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
20	rs558233232	chr2:10675879-10675880	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
21	rs138416093	chr2:10675880-10675881	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
22	rs377181321	chr2:10675905-10675906	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
23	rs555610554	chr2:10675921-10675922	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
24	rs75963279	chr2:10675928-10675929	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
25	rs541408710	chr2:10675943-10675944	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
26	rs563741074	chr2:10675950-10675951	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
27	rs572103644	chr2:10675961-10675962	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
28	rs545534932	chr2:10675980-10675981	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
29	rs115222881	chr2:10675986-10675987	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
30	rs531500646	chr2:10675994-10675995	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
31	rs529444937	chr2:10676066-10676067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs561944129	chr2:10676132-10676133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs529239769	chr2:10676159-10676160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs143987211	chr2:10676179-10676180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs542975922	chr2:10676189-10676190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs565886368	chr2:10676217-10676218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs377099988	chr2:10676219-10676220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs13012698	chr2:10676227-10676228	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs147310746	chr2:10676244-10676245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs183983668	chr2:10676262-10676263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs200016001	chr2:10676287-10676288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs149110152	chr2:10676288-10676289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs183511267	chr2:10676293-10676294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs13012907	chr2:10676309-10676310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs113316300	chr2:10676315-10676316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs35030402	chr2:10676317-10676318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs34461664	chr2:10676320-10676321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs113079373	chr2:10676336-10676337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs201455898	chr2:10676341-10676342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs142531118	chr2:10676342-10676343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Mental retardation	17847001	CNVD
Glioblastoma multiforme	21080181	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Cancer	20164920	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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Glioma	17123091	CNVD
Breast cancer	20409316	CNVD
Multiple myeloma	16616336	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923524	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:484 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10672400-10679800	Weak transcription	K562	blood
2	chr2:10673000-10675600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:10673000-10677200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:10674200-10676000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:10674600-10675600	Enhancers	Placenta Amnion	Placenta Amnion
6	chr2:10674600-10678600	Weak transcription	Hela-S3	cervix
7	chr2:10674800-10677000	Weak transcription	HSMM	muscle
8	chr2:10675000-10675800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr2:10675000-10676400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:10675200-10675800	Weak transcription	Spleen	Spleen
11	chr2:10675200-10682000	Weak transcription	NH-A	brain
12	chr2:10675600-10676000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:10675600-10678600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr2:10675800-10676000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:10675800-10676200	Enhancers	Fetal Muscle Trunk	muscle
16	chr2:10675800-10676200	Enhancers	Spleen	Spleen
17	chr2:10676000-10676200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:10676000-10676800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:10676000-10677000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:10676200-10677200	Weak transcription	Spleen	Spleen
21	chr2:10676200-10684400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:10676400-10676800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:10676800-10677000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr2:10676800-10677400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr2:10676800-10677400	Enhancers	A549	lung
26	chr2:10676800-10678800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
27	chr2:10676800-10678800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr2:10676800-10679000	Enhancers	Dnd41	blood
29	chr2:10677000-10677200	Enhancers	Fetal Muscle Trunk	muscle
30	chr2:10677000-10677800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr2:10677000-10679800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr2:10677200-10678200	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr2:10677200-10679800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:10677400-10678600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:10677400-10678600	Weak transcription	A549	lung
36	chr2:10677600-10677800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr2:10677600-10679000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr2:10677800-10678200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr2:10677800-10678200	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr2:10677800-10678200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr2:10677800-10678200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr2:10677800-10678800	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr2:10678000-10678200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr2:10678000-10680000	Enhancers	HMEC	breast
45	chr2:10678200-10679800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr2:10678400-10678800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr2:10678400-10679600	Enhancers	NHEK	skin
48	chr2:10678400-10680000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr2:10678600-10678800	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr2:10678600-10678800	Enhancers	Placenta Amnion	Placenta Amnion

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