Variant report

Variant	rs2127870
Chromosome Location	chr14:65796846-65796847
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:65795609..65798405-chr14:65878932..65881691,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000033170	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11158588	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12436465	0.88[MEX][hapmap]
rs2127868	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4899172	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4899173	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4902387	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4902388	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4902389	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7143109	0.87[TSI][hapmap]
rs9635249	0.94[AMR][1000 genomes];0.98[EUR][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	nsv832817	chr14:65637069-65810406	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
2	nsv832818	chr14:65706859-65882320	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer 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	20 gene(s)	inside rSNPs	diseases
3	nsv1036403	chr14:65724229-66208114	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
4	nsv1043943	chr14:65782466-66698411	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
5	nsv542120	chr14:65782466-66698411	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2127870	CTD-2509G16.2	cis	Whole Blood	GTEx
rs2127870	CHURC1	cis	parietal	SCAN
rs2127870	FUT8	cis	cerebellum	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65788400-65800600	Weak transcription	Thymus	Thymus
2	chr14:65789000-65800600	Weak transcription	Primary T cells from cord blood	blood
3	chr14:65790800-65799400	Weak transcription	Stomach Mucosa	stomach
4	chr14:65794600-65799200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr14:65795400-65804600	Enhancers	Primary B cells from peripheral blood	blood
6	chr14:65796000-65797200	Enhancers	Placenta Amnion	Placenta Amnion
7	chr14:65796000-65798200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr14:65796000-65807200	Enhancers	Placenta	Placenta
9	chr14:65796400-65797200	Enhancers	Gastric	stomach
10	chr14:65796400-65797400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr14:65796400-65797400	Enhancers	Primary B cells from cord blood	blood
12	chr14:65796400-65797800	Enhancers	NHEK	skin
13	chr14:65796400-65798000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr14:65796400-65798000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr14:65796600-65797000	Enhancers	Brain Cingulate Gyrus	brain
16	chr14:65796600-65797400	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr14:65796600-65797400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr14:65796600-65797400	Enhancers	K562	blood
19	chr14:65796600-65797600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr14:65796600-65798000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr14:65796800-65797000	Enhancers	Duodenum Mucosa	Duodenum
22	chr14:65796800-65797200	Flanking Active TSS	GM12878-XiMat	blood
23	chr14:65796800-65798000	Enhancers	Primary hematopoietic stem cells	blood
24	chr14:65796800-65798000	Enhancers	HMEC	breast
25	chr14:65796800-65800600	Weak transcription	Fetal Thymus	thymus
26	chr14:65796800-65800800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr14:65796800-65800800	Weak transcription	Stomach Smooth Muscle	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links