Variant report

Variant	rs261228
Chromosome Location	chr5:95905041-95905042
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	chr5:95899443..95902123-chr5:95903366..95905587,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10515238	1.00[ASN][1000 genomes]
rs11135464	1.00[ASN][1000 genomes]
rs11135465	1.00[ASN][1000 genomes]
rs11739740	1.00[ASN][1000 genomes]
rs11744768	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12516760	1.00[ASN][1000 genomes]
rs12517435	1.00[ASN][1000 genomes]
rs12519934	1.00[ASN][1000 genomes]
rs1560837	1.00[ASN][1000 genomes]
rs1560838	1.00[ASN][1000 genomes]
rs1566338	1.00[ASN][1000 genomes]
rs17394413	1.00[ASN][1000 genomes]
rs17473246	1.00[ASN][1000 genomes]
rs17473575	1.00[ASN][1000 genomes]
rs183784	1.00[ASN][1000 genomes]
rs187771	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs261224	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs261232	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs261239	1.00[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs261241	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs261242	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs261243	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs261244	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs263376	1.00[ASN][1000 genomes]
rs35335212	1.00[ASN][1000 genomes]
rs35758052	1.00[ASN][1000 genomes]
rs3853208	1.00[ASN][1000 genomes]
rs3853209	1.00[ASN][1000 genomes]
rs3866380	1.00[ASN][1000 genomes]
rs55668618	1.00[ASN][1000 genomes]
rs56188323	1.00[ASN][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	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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95902000-95908400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:95902400-95905400	Weak transcription	A549	lung
3	chr5:95903200-95906200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr5:95903200-95907400	Weak transcription	NHLF	lung
5	chr5:95903200-95908200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:95903200-95908400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:95903400-95905600	Weak transcription	Osteobl	bone
8	chr5:95903400-95908200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr5:95903400-95908200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr5:95903400-95908200	Weak transcription	HMEC	breast
11	chr5:95903400-95908200	Weak transcription	NHEK	skin
12	chr5:95903400-95908400	Weak transcription	NHDF-Ad	bronchial
13	chr5:95903600-95906200	Enhancers	HUVEC	blood vessel
14	chr5:95903600-95908400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:95903600-95908400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr5:95903800-95906800	Weak transcription	Hela-S3	cervix
17	chr5:95903800-95908400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr5:95903800-95908400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr5:95904200-95906400	Enhancers	Muscle Satellite Cultured Cells	--
20	chr5:95904400-95906000	Enhancers	NH-A	brain
21	chr5:95904600-95905800	Enhancers	HSMM	muscle
22	chr5:95904800-95905200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr5:95904800-95905600	Enhancers	HSMMtube	muscle
24	chr5:95905000-95907200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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