Variant report

Variant	rs4869295
Chromosome Location	chr5:95937567-95937568
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:95194159..95195061-chr5:95937129..95937952,3	K562	blood:
2	chr5:95680160..95681036-chr5:95937146..95938053,5	K562	blood:
3	chr5:95680204..95681599-chr5:95936681..95938160,14	MCF-7	breast:
4	chr5:95194159..95195132-chr5:95937235..95938162,2	MCF-7	breast:
5	chr5:95680357..95681047-chr5:95937454..95937969,2	MCF-7	breast:
6	chr5:95936365..95939186-chr5:96519046..96521113,3	K562	blood:

Variant related genes	Relation type
ENSG00000251513	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10044628	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs182003	1.00[ASN][1000 genomes]
rs2607161	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs261199	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs261200	0.88[ASN][1000 genomes]
rs261202	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs261203	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs261204	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs261205	0.88[ASN][1000 genomes]
rs261206	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs261207	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs261208	0.87[ASN][1000 genomes]
rs261209	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs261210	0.99[ASN][1000 genomes]
rs261211	0.85[ASN][1000 genomes]
rs261212	0.88[ASN][1000 genomes]
rs261213	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs261214	0.99[ASN][1000 genomes]
rs261215	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs261216	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs261219	0.84[JPT][hapmap]

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	nsv1030444	chr5:95353620-95995619	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv537810	chr5:95353620-95995619	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1024964	chr5:95742124-96065492	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv537811	chr5:95742124-96065492	Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv1026484	chr5:95759910-95961518	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95933800-95941000	Weak transcription	Osteobl	bone
2	chr5:95936200-95937600	Flanking Active TSS	HUVEC	blood vessel
3	chr5:95936600-95937800	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr5:95936800-95937600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr5:95937000-95937600	Active TSS	Brain Anterior Caudate	brain
6	chr5:95937000-95937600	Enhancers	HMEC	breast
7	chr5:95937200-95937600	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr5:95937200-95939400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:95937400-95937600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:95937400-95937600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:95937400-95937600	Active TSS	Brain Hippocampus Middle	brain
12	chr5:95937400-95937800	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr5:95937400-95937800	Enhancers	Adipose Nuclei	Adipose
14	chr5:95937400-95937800	Enhancers	A549	lung
15	chr5:95937400-95937800	Enhancers	Hela-S3	cervix
16	chr5:95937400-95938000	Enhancers	Primary T helper naive cells from peripheral blood	blood

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