Variant report

Variant	rs316226
Chromosome Location	chr5:96415102-96415103
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:96413541..96415661-chr5:96445428..96448359,2	MCF-7	breast:
2	chr5:96405505..96407862-chr5:96413976..96415782,2	K562	blood:
3	chr5:96414990..96416706-chr5:96466146..96468878,2	MCF-7	breast:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10463198	0.81[CHB][hapmap]
rs11739416	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11739448	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11740941	0.81[ASN][1000 genomes]
rs11749186	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11750003	0.81[ASN][1000 genomes]
rs11958159	0.88[CHD][hapmap];0.82[JPT][hapmap];0.85[MEX][hapmap];0.86[ASN][1000 genomes]
rs12109525	0.81[ASN][1000 genomes]
rs13154242	0.85[ASN][1000 genomes]
rs13167931	0.86[ASN][1000 genomes]
rs13173677	0.86[ASN][1000 genomes]
rs13175726	0.81[ASN][1000 genomes]
rs172723	0.83[ASN][1000 genomes]
rs172724	0.83[ASN][1000 genomes]
rs172725	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs186414	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs221970	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2544775	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs316181	0.83[ASN][1000 genomes]
rs316182	0.81[ASN][1000 genomes]
rs316187	0.87[ASN][1000 genomes]
rs316188	0.87[ASN][1000 genomes]
rs316189	0.87[ASN][1000 genomes]
rs316206	0.89[JPT][hapmap]
rs316208	0.94[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap]
rs316211	0.95[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap]
rs316213	0.81[CHB][hapmap]
rs316216	0.83[ASN][1000 genomes]
rs316220	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs316221	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs316223	0.81[AMR][1000 genomes]
rs316225	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs316227	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs316228	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs421173	0.83[ASN][1000 genomes]
rs445037	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv598962	chr5:96057891-96893164	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv4924	chr5:96391451-96437233	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96411400-96417600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr5:96414000-96416000	Enhancers	Primary B cells from cord blood	blood
3	chr5:96414200-96415600	Enhancers	Primary B cells from peripheral blood	blood
4	chr5:96414200-96415800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:96414200-96417400	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr5:96414400-96415200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr5:96414400-96415600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr5:96414600-96415200	Enhancers	Muscle Satellite Cultured Cells	--
9	chr5:96414600-96415200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr5:96414600-96415200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr5:96414600-96415200	Enhancers	Osteobl	bone
12	chr5:96414600-96415400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:96414600-96415400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:96414600-96415400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr5:96414600-96415400	Enhancers	NHDF-Ad	bronchial
16	chr5:96414600-96415600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr5:96414600-96417000	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr5:96414600-96421400	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr5:96414800-96415400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr5:96414800-96415400	Enhancers	GM12878-XiMat	blood
21	chr5:96415000-96415600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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