Variant report

Variant	nsv519963
Chromosome Location	chr2:10684391-10688969
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10588254..10590396-chr2:10688188..10690335,2	K562	blood:
2	chr2:10688125..10690392-chr2:10697109..10699588,2	K562	blood:
3	chr2:10587055..10588827-chr2:10683720..10686701,2	K562	blood:
4	chr2:10677985..10680964-chr2:10684522..10686186,2	K562	blood:
5	chr2:10584220..10586892-chr2:10686951..10688711,2	K562	blood:
6	chr2:10636415..10638376-chr2:10688711..10690452,2	K562	blood:
7	chr2:10586791..10590396-chr2:10688660..10691536,3	K562	blood:

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

Extended variants
information (count: 217 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:217 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4669588	chr2:10684391-10684392	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs75384767	chr2:10684392-10684393	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs182966222	chr2:10684439-10684440	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs540828866	chr2:10684442-10684443	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs565429123	chr2:10684492-10684493	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs35459874	chr2:10684496-10684497	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs12476576	chr2:10684530-10684531	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs116074707	chr2:10684540-10684541	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs73917006	chr2:10684562-10684563	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs530551006	chr2:10684612-10684613	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs7585934	chr2:10684640-10684641	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs544515278	chr2:10684641-10684642	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs528128954	chr2:10684662-10684663	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs201966816	chr2:10684675-10684676	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs372869198	chr2:10684695-10684696	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs76953425	chr2:10684730-10684731	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs76035354	chr2:10684731-10684732	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs188072075	chr2:10684748-10684749	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs7586055	chr2:10684777-10684778	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs370660078	chr2:10684817-10684818	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs149950618	chr2:10684821-10684822	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs569028012	chr2:10684846-10684847	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs536663495	chr2:10684882-10684883	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs200529527	chr2:10684896-10684897	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs557554644	chr2:10684897-10684898	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs191461300	chr2:10684933-10684934	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs147646029	chr2:10684936-10684937	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs142334892	chr2:10684981-10684982	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs577543067	chr2:10685034-10685035	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs376236160	chr2:10685041-10685042	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs199928660	chr2:10685059-10685060	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs28711783	chr2:10685069-10685070	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs28516621	chr2:10685071-10685072	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs150072790	chr2:10685077-10685078	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs28434389	chr2:10685078-10685079	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs201211787	chr2:10685107-10685108	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs59294627	chr2:10685108-10685109	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs563191658	chr2:10685166-10685167	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs530291101	chr2:10685215-10685216	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs187981044	chr2:10685238-10685239	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs13024441	chr2:10685243-10685244	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs72773584	chr2:10685248-10685249	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs546322874	chr2:10685313-10685314	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs192440709	chr2:10685337-10685338	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs34543524	chr2:10685373-10685374	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs79761961	chr2:10685376-10685377	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs11892154	chr2:10685411-10685412	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs569140192	chr2:10685416-10685417	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs10803722	chr2:10685427-10685428	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs538022003	chr2:10685438-10685439	Weak transcription	Chromatin interactive region	2 gene(s)	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:135 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10676200-10684400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:10678800-10686800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:10680000-10686600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr2:10680000-10687200	Weak transcription	HMEC	breast
5	chr2:10680000-10687600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:10680200-10687000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:10682200-10684400	Weak transcription	NH-A	brain
8	chr2:10684000-10684400	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr2:10684000-10684400	Enhancers	Primary T cells fromperipheralblood	blood
10	chr2:10684000-10684400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
11	chr2:10684000-10684800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:10684000-10685000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr2:10684000-10685000	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr2:10684000-10685200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr2:10684000-10685400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr2:10684200-10684600	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr2:10684200-10684600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr2:10684200-10684600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:10684200-10684600	Enhancers	K562	blood
20	chr2:10684200-10684800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr2:10684200-10684800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr2:10684200-10684800	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr2:10684200-10684800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr2:10684200-10684800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:10684200-10684800	Enhancers	Fetal Thymus	thymus
26	chr2:10684200-10684800	Enhancers	Osteobl	bone
27	chr2:10684200-10685000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr2:10684200-10685200	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr2:10684400-10684600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:10684400-10684600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
31	chr2:10684400-10684600	Enhancers	NH-A	brain
32	chr2:10684400-10684800	Bivalent Enhancer	HepG2	liver
33	chr2:10684400-10685000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
34	chr2:10684400-10685000	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr2:10684400-10688000	Weak transcription	Spleen	Spleen
36	chr2:10684600-10684800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr2:10684600-10685000	Enhancers	Primary T cells fromperipheralblood	blood
38	chr2:10684600-10688600	Weak transcription	NH-A	brain
39	chr2:10684800-10686800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr2:10684800-10686800	Weak transcription	Osteobl	bone
41	chr2:10685200-10686600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr2:10685600-10686200	Enhancers	Fetal Intestine Small	intestine
43	chr2:10685800-10686000	Enhancers	Stomach Mucosa	stomach
44	chr2:10686400-10687000	Weak transcription	Stomach Mucosa	stomach
45	chr2:10686600-10686800	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr2:10686600-10687200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr2:10686600-10688000	Enhancers	NHEK	skin
48	chr2:10686600-10688800	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr2:10686800-10687000	Enhancers	Osteobl	bone
50	chr2:10686800-10687800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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