Variant report

Variant	rs59614513
Chromosome Location	chr2:11893452-11893453
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11798417..11800277-chr2:11891878..11893871,2	K562	blood:
2	chr2:11886095..11889149-chr2:11892372..11895802,5	MCF-7	breast:
3	chr2:11892034..11894418-chr2:11895630..11897983,2	K562	blood:
4	chr2:11893238..11895926-chr2:11901659..11904630,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134324	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs55936623	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73917120	1.00[AMR][1000 genomes]
rs73917122	1.00[AMR][1000 genomes]
rs73917123	1.00[AMR][1000 genomes]
rs73917856	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
4	nsv580973	chr2:11864946-11898931	Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv580974	chr2:11867841-11898931	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11887800-11894000	Enhancers	Primary B cells from peripheral blood	blood
2	chr2:11888400-11893600	Weak transcription	HSMM	muscle
3	chr2:11888400-11895000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:11888400-11916400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:11888600-11893600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:11888600-11893600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:11888600-11894000	Enhancers	Brain Anterior Caudate	brain
8	chr2:11889200-11893600	Enhancers	Primary T cells fromperipheralblood	blood
9	chr2:11889200-11894200	Weak transcription	Colon Smooth Muscle	Colon
10	chr2:11889400-11893600	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr2:11889400-11894400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:11889600-11893600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr2:11889600-11893800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr2:11889800-11893600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr2:11890000-11894000	Enhancers	Primary hematopoietic stem cells	blood
16	chr2:11890400-11893600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:11890400-11893600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:11890400-11893600	Weak transcription	Right Atrium	heart
19	chr2:11890400-11906400	Weak transcription	Fetal Brain Male	brain
20	chr2:11890600-11893600	Weak transcription	Fetal Brain Female	brain
21	chr2:11890600-11898600	Weak transcription	HepG2	liver
22	chr2:11890600-11905800	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr2:11890800-11895600	Enhancers	Psoas Muscle	Psoas
24	chr2:11891000-11895200	Enhancers	HMEC	breast
25	chr2:11891200-11893600	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr2:11891200-11893600	Weak transcription	HSMMtube	muscle
27	chr2:11891200-11893600	Weak transcription	Osteobl	bone
28	chr2:11891400-11893600	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr2:11891400-11893600	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr2:11891400-11893600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:11891400-11893600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr2:11891400-11893600	Weak transcription	Ovary	ovary
33	chr2:11891400-11894000	Enhancers	Hela-S3	cervix
34	chr2:11891400-11897400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr2:11891400-11903000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr2:11891600-11893600	Weak transcription	NH-A	brain
37	chr2:11891600-11893800	Weak transcription	Fetal Heart	heart
38	chr2:11891600-11893800	Weak transcription	Dnd41	blood
39	chr2:11892200-11895200	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr2:11892200-11895200	Enhancers	NHDF-Ad	bronchial
41	chr2:11892200-11895800	Enhancers	Small Intestine	intestine
42	chr2:11892800-11893800	Enhancers	Primary B cells from cord blood	blood
43	chr2:11892800-11893800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr2:11892800-11894000	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr2:11892800-11894000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr2:11892800-11894000	Enhancers	Colonic Mucosa	Colon
47	chr2:11892800-11895000	Enhancers	Liver	Liver
48	chr2:11892800-11895000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr2:11892800-11895600	Enhancers	Fetal Thymus	thymus
50	chr2:11892800-11895800	Enhancers	Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links