Variant report

Variant	rs10748466
Chromosome Location	chr12:47595707-47595708
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:47594953..47597866-chr12:47601713..47603495,2	K562	blood:
2	chr12:47591993..47593635-chr12:47593815..47595761,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000247774	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10748465	0.93[EUR][1000 genomes]
rs10881068	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10881071	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10881076	0.92[EUR][1000 genomes]
rs2193721	0.95[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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47583200-47628600	Weak transcription	Aorta	Aorta
2	chr12:47584000-47600600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:47584800-47597200	Weak transcription	Primary B cells from cord blood	blood
4	chr12:47584800-47605800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:47585400-47600400	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr12:47585600-47599800	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr12:47585800-47601000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:47588200-47599600	Weak transcription	Fetal Thymus	thymus
9	chr12:47588600-47597800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:47588600-47599800	Weak transcription	Spleen	Spleen
11	chr12:47589400-47598400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr12:47589600-47597200	Weak transcription	Primary B cells from peripheral blood	blood
13	chr12:47589600-47599200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr12:47590200-47597600	Weak transcription	Primary T cells from cord blood	blood
15	chr12:47591400-47597200	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr12:47591600-47597600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr12:47591600-47598200	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr12:47592200-47595800	Weak transcription	A549	lung
19	chr12:47592400-47597800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr12:47593200-47596400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr12:47594600-47595800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr12:47594800-47595800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr12:47595200-47596200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr12:47595200-47599200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr12:47595400-47595800	Genic enhancers	Primary T cells fromperipheralblood	blood
26	chr12:47595400-47595800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr12:47595600-47596800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr12:47595600-47597800	Enhancers	Primary T helper naive cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links