Variant report

Variant	rs1605275
Chromosome Location	chr5:58815363-58815364
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10805515	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17740844	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35987304	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56224837	0.80[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7703658	0.83[ASW][hapmap];0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.85[TSI][hapmap];0.83[AFR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7712329	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[TSI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7717802	0.88[ASW][hapmap];0.80[CEU][hapmap]
rs7728286	0.89[ASW][hapmap];0.96[CEU][hapmap];0.88[GIH][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs921942	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.98[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	nsv598254	chr5:58715782-58923601	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv881706	chr5:58730111-58865857	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1031631	chr5:58783629-59015470	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58801400-58817000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr5:58804800-58819800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:58810000-58823600	Weak transcription	Colon Smooth Muscle	Colon
4	chr5:58811200-58817000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr5:58813200-58815400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:58813200-58815600	Enhancers	HSMM	muscle
7	chr5:58813200-58815800	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr5:58813600-58818800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr5:58814200-58818200	Weak transcription	HSMMtube	muscle
10	chr5:58814400-58815600	Enhancers	HUVEC	blood vessel
11	chr5:58814400-58817200	Weak transcription	Fetal Intestine Large	intestine
12	chr5:58814400-58818200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr5:58814400-58818600	Weak transcription	Stomach Mucosa	stomach
14	chr5:58814400-58820400	Weak transcription	Psoas Muscle	Psoas
15	chr5:58814600-58815400	Enhancers	Muscle Satellite Cultured Cells	--
16	chr5:58814600-58816400	Genic enhancers	A549	lung
17	chr5:58814600-58817000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr5:58814600-58817200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:58814600-58817200	Weak transcription	NHEK	skin
20	chr5:58814600-58818400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:58814600-58823800	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr5:58814800-58815400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr5:58814800-58815400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr5:58815000-58815600	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr5:58815000-58817000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr5:58815200-58815400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr5:58815200-58815400	Enhancers	H9 Cell Line	embryonic stem cell

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