Variant report

Variant	rs35275
Chromosome Location	chr5:58647328-58647329
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12517657	0.83[EUR][1000 genomes]
rs151802	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs154025	0.93[ASN][1000 genomes]
rs154027	0.90[ASW][hapmap];0.95[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.85[GIH][hapmap];0.82[LWK][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs154028	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[YRI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs185333	1.00[CHB][hapmap];0.83[YRI][hapmap];0.93[ASN][1000 genomes]
rs244584	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs244585	0.94[CEU][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35255	0.95[CHB][hapmap]
rs35259	0.81[CHB][hapmap]
rs35260	0.81[CHB][hapmap]
rs35262	1.00[CHB][hapmap];0.92[ASN][1000 genomes]
rs35264	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35265	0.95[CEU][hapmap];0.80[CHB][hapmap];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35266	0.90[CEU][hapmap];0.90[JPT][hapmap];0.96[EUR][1000 genomes]
rs35280	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35281	0.95[CHB][hapmap];0.90[CHD][hapmap]
rs35282	0.83[ASW][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.92[GIH][hapmap];1.00[LWK][hapmap];0.81[MKK][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35285	0.95[CHB][hapmap];0.82[CHD][hapmap]
rs35286	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs35287	1.00[CHB][hapmap];0.90[CHD][hapmap];0.89[ASN][1000 genomes]
rs40125	0.90[CEU][hapmap];0.82[CHB][hapmap];0.84[CHD][hapmap];0.91[JPT][hapmap];0.92[MEX][hapmap];0.97[TSI][hapmap];0.97[EUR][1000 genomes]
rs721826	0.86[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	nsv1023628	chr5:58557950-58757438	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv917274	chr5:58565291-58814374	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv1030716	chr5:58636116-58718362	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1032732	chr5:58637179-58689010	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1022160	chr5:58645805-58689010	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58634400-58647800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:58635200-58652600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr5:58641200-58648000	Enhancers	A549	lung
4	chr5:58642200-58653200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr5:58642600-58652600	Weak transcription	Fetal Brain Male	brain
6	chr5:58642600-58652600	Weak transcription	Small Intestine	intestine
7	chr5:58643600-58652400	Weak transcription	Fetal Kidney	kidney
8	chr5:58644200-58650400	Enhancers	Fetal Heart	heart
9	chr5:58644800-58648600	Weak transcription	Hela-S3	cervix
10	chr5:58645800-58647600	Enhancers	Colon Smooth Muscle	Colon
11	chr5:58646000-58647400	Enhancers	Right Atrium	heart
12	chr5:58646000-58648400	Enhancers	Brain Hippocampus Middle	brain
13	chr5:58646000-58648400	Enhancers	Psoas Muscle	Psoas
14	chr5:58646200-58654400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr5:58646600-58648000	Enhancers	Fetal Brain Female	brain
16	chr5:58646600-58648000	Enhancers	Fetal Muscle Leg	muscle
17	chr5:58646600-58648000	Enhancers	Ovary	ovary
18	chr5:58646600-58648600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:58646600-58649400	Enhancers	Brain Substantia Nigra	brain
20	chr5:58646600-58649400	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr5:58646600-58650000	Enhancers	Fetal Lung	lung
22	chr5:58646800-58647800	Weak transcription	Right Ventricle	heart
23	chr5:58646800-58648600	Enhancers	Brain Angular Gyrus	brain
24	chr5:58647000-58648200	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr5:58647000-58648200	Enhancers	Brain Cingulate Gyrus	brain
26	chr5:58647000-58648600	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr5:58647000-58648800	Enhancers	Brain Anterior Caudate	brain
28	chr5:58647000-58649000	Enhancers	Fetal Stomach	stomach
29	chr5:58647200-58647600	Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr5:58647200-58647800	Weak transcription	Left Ventricle	heart
31	chr5:58647200-58647800	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr5:58647200-58650400	Enhancers	Rectal Smooth Muscle	rectum

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