Variant report

Variant	rs832742
Chromosome Location	chr12:47588408-47588409
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:47428318..47428935-chr12:47587759..47588528,2	MCF-7	breast:
2	chr12:47588063..47588826-chr12:47701122..47701777,2	MCF-7	breast:
3	chr12:47587174..47588908-chr12:47615802..47618162,2	K562	blood:
4	chr12:47583159..47586380-chr12:47586604..47590176,3	MCF-7	breast:
5	chr12:47588311..47590826-chr12:47591836..47593826,2	K562	blood:

Variant related genes	Relation type
ENSG00000179715	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1096740	0.83[EUR][1000 genomes]
rs12825118	1.00[CEU][hapmap]
rs832721	1.00[CEU][hapmap]
rs832723	1.00[CEU][hapmap]
rs832725	1.00[CEU][hapmap]
rs832732	0.85[JPT][hapmap]
rs832739	0.83[EUR][1000 genomes]
rs832740	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469368	chr12:47374908-47675680	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv558784	chr12:47374908-47675680	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv832399	chr12:47502910-47689601	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv2751100	chr12:47541390-47746157	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47581800-47594000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr12:47583200-47589200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr12:47583200-47628600	Weak transcription	Aorta	Aorta
4	chr12:47584000-47600600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr12:47584200-47589600	Enhancers	Primary B cells from peripheral blood	blood
6	chr12:47584800-47597200	Weak transcription	Primary B cells from cord blood	blood
7	chr12:47584800-47605800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:47585000-47588600	Enhancers	GM12878-XiMat	blood
9	chr12:47585400-47590200	Enhancers	A549	lung
10	chr12:47585400-47592800	Weak transcription	NHEK	skin
11	chr12:47585400-47600400	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr12:47585600-47588600	Enhancers	Liver	Liver
13	chr12:47585600-47599800	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr12:47585800-47601000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:47586000-47590400	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr12:47586200-47588600	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr12:47586200-47590200	Enhancers	Primary T cells from cord blood	blood
18	chr12:47586400-47589000	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr12:47586400-47589200	Enhancers	Primary T cells fromperipheralblood	blood
20	chr12:47586600-47588600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr12:47586600-47588600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
22	chr12:47586600-47589400	Enhancers	Colon Smooth Muscle	Colon
23	chr12:47586800-47588600	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr12:47586800-47588600	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr12:47587000-47588600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr12:47587000-47588600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr12:47587000-47588600	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr12:47587000-47588600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr12:47587000-47588600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr12:47587200-47588600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr12:47587400-47588600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr12:47587400-47588600	Enhancers	Fetal Heart	heart
33	chr12:47587400-47588800	Enhancers	Primary hematopoietic stem cells	blood
34	chr12:47587400-47588800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr12:47587400-47590200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr12:47587600-47588600	Enhancers	Fetal Intestine Small	intestine
37	chr12:47587600-47588600	Enhancers	Right Atrium	heart
38	chr12:47587600-47590200	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr12:47587800-47590400	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr12:47587800-47590400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr12:47588000-47589400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr12:47588000-47589400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr12:47588000-47592000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr12:47588200-47588600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:47588200-47599600	Weak transcription	Fetal Thymus	thymus
46	chr12:47588400-47588600	Enhancers	H9 Cell Line	embryonic stem cell
47	chr12:47588400-47588600	Enhancers	Rectal Smooth Muscle	rectum
48	chr12:47588400-47588600	Enhancers	Small Intestine	intestine
49	chr12:47588400-47588600	Enhancers	Spleen	Spleen
50	chr12:47588400-47588800	Flanking Active TSS	K562	blood

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