Variant report

Variant	rs61288498
Chromosome Location	chr5:58352480-58352481
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11957770	1.00[EUR][1000 genomes]
rs13360359	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16889175	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56658018	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58202935	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58830206	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60527700	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60741550	0.83[ASN][1000 genomes]
rs60790143	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60836618	0.83[ASN][1000 genomes]
rs60900708	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6869400	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73093337	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73093348	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73093351	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830363	chr5:57893949-58555491	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv830312	chr5:58191579-58382226	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv830313	chr5:58273724-58421098	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv1032308	chr5:58312468-58371239	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58336200-58375600	Weak transcription	Left Ventricle	heart
2	chr5:58336600-58358000	Weak transcription	Fetal Intestine Large	intestine
3	chr5:58336600-58358000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr5:58337400-58359000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr5:58338800-58359200	Weak transcription	Fetal Muscle Leg	muscle
6	chr5:58338800-58362000	Weak transcription	Gastric	stomach
7	chr5:58339000-58365200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr5:58340600-58359000	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr5:58343600-58356400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:58346000-58359000	Weak transcription	Stomach Mucosa	stomach
11	chr5:58347200-58353000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr5:58347200-58359200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr5:58348200-58362000	Weak transcription	Psoas Muscle	Psoas
14	chr5:58348400-58354200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr5:58349600-58360600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr5:58350400-58360200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr5:58350600-58360200	Weak transcription	Fetal Stomach	stomach
18	chr5:58351000-58359000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr5:58351800-58357600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr5:58352000-58357000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr5:58352000-58357000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:58352200-58352600	Weak transcription	Fetal Intestine Small	intestine
23	chr5:58352200-58353200	Enhancers	Hela-S3	cervix
24	chr5:58352200-58354000	Weak transcription	HepG2	liver
25	chr5:58352400-58355800	Genic enhancers	A549	lung

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