Variant report

Variant	esv1806545
Chromosome Location	chr2:9925542-9928013
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:9921109..9926354-chr2:9930407..9935197,5	K562	blood:
2	chr2:9924453..9926268-chr2:9927914..9930082,2	K562	blood:
3	chr2:9925610..9927951-chr2:9929865..9931540,2	MCF-7	breast:
4	chr2:9694755..9696304-chr2:9923143..9926045,2	MCF-7	breast:
5	chr2:9924453..9926268-chr2:9927914..9930082,2	K562	blood:

Variant related genes	Relation type
ENSG00000271855	chromatin interactions
ENSG00000151694	chromatin interactions

Extended variants
information (count: 81 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4669461	chr2:9925542-9925543	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs540945978	chr2:9925557-9925558	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs185937474	chr2:9925587-9925588	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs571106886	chr2:9925670-9925671	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs7563814	chr2:9925703-9925704	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs547077097	chr2:9925731-9925732	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs566989167	chr2:9925735-9925736	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs191730785	chr2:9925793-9925794	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs115055557	chr2:9925844-9925845	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs370843214	chr2:9925862-9925863	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs145113231	chr2:9925875-9925876	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs116320677	chr2:9925897-9925898	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs540527582	chr2:9925921-9925922	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs145041547	chr2:9925922-9925923	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs201717666	chr2:9925939-9925940	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs76581491	chr2:9925950-9925951	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs74806494	chr2:9925952-9925953	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs183007177	chr2:9926057-9926058	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs186331319	chr2:9926082-9926083	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs147581843	chr2:9926094-9926095	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs573427436	chr2:9926099-9926100	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs542241377	chr2:9926117-9926118	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs190934052	chr2:9926161-9926162	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs182277763	chr2:9926173-9926174	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs4669462	chr2:9926202-9926203	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs188004634	chr2:9926258-9926259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs149063872	chr2:9926292-9926293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544029305	chr2:9926409-9926410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs369561977	chr2:9926436-9926437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs1515326	chr2:9926464-9926465	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs190968544	chr2:9926513-9926514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs183263560	chr2:9926516-9926517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs12999490	chr2:9926585-9926586	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs79675791	chr2:9926599-9926600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs188457808	chr2:9926624-9926625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs12999528	chr2:9926637-9926638	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs537861177	chr2:9926657-9926658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557595861	chr2:9926667-9926668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571228546	chr2:9926708-9926709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs34366326	chr2:9926722-9926723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs571878497	chr2:9926728-9926729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs193031923	chr2:9926732-9926733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs184942560	chr2:9926738-9926739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs567873285	chr2:9926754-9926755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs151197058	chr2:9926790-9926791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs188253835	chr2:9926823-9926824	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs113292843	chr2:9926903-9926904	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs575954735	chr2:9926916-9926917	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs140392064	chr2:9926928-9926929	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs564744271	chr2:9926934-9926935	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Neuroblastoma	18923524	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9919400-9927000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:9922600-9927200	Weak transcription	GM12878-XiMat	blood
3	chr2:9923000-9927000	Weak transcription	Fetal Kidney	kidney
4	chr2:9923200-9927000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr2:9923200-9927000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:9923200-9927000	Weak transcription	Adipose Nuclei	Adipose
7	chr2:9923400-9925600	Weak transcription	Fetal Intestine Large	intestine
8	chr2:9923400-9926000	Weak transcription	Fetal Intestine Small	intestine
9	chr2:9923400-9926200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr2:9923400-9926200	Weak transcription	Placenta	Placenta
11	chr2:9923600-9926800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:9923600-9927000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr2:9923600-9927000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr2:9923600-9927200	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr2:9923600-9927200	Weak transcription	Fetal Thymus	thymus
16	chr2:9923600-9927400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr2:9924000-9926200	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr2:9924200-9927000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr2:9924200-9927000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr2:9924400-9927000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr2:9924600-9927000	Weak transcription	Primary T cells from cord blood	blood
22	chr2:9925400-9926800	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr2:9925600-9926600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:9925600-9927600	Enhancers	Fetal Intestine Large	intestine
25	chr2:9926000-9926200	Bivalent Enhancer	HepG2	liver
26	chr2:9926000-9927000	Enhancers	Fetal Intestine Small	intestine
27	chr2:9926200-9926400	Enhancers	Duodenum Mucosa	Duodenum
28	chr2:9926200-9927000	Enhancers	Primary T cells fromperipheralblood	blood
29	chr2:9926200-9927000	Enhancers	Placenta	Placenta
30	chr2:9926800-9927000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr2:9926800-9927000	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr2:9926800-9927400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:9926800-9927400	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr2:9926800-9927600	Active TSS	Osteobl	bone
35	chr2:9927000-9927200	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr2:9927000-9927200	Enhancers	Primary B cells from peripheral blood	blood
37	chr2:9927000-9927200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr2:9927000-9927200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr2:9927000-9927200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr2:9927000-9927200	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr2:9927000-9927200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr2:9927000-9927200	Flanking Active TSS	Fetal Intestine Small	intestine
43	chr2:9927000-9927400	Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr2:9927000-9927400	Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr2:9927000-9927400	Active TSS	HUES64 Cell Line	embryonic stem cell
46	chr2:9927000-9927400	Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr2:9927000-9927400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr2:9927000-9927400	Active TSS	Primary hematopoietic stem cells	blood
49	chr2:9927000-9927400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr2:9927000-9927400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood

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