Variant report

Variant	rs62357647
Chromosome Location	chr5:40907222-40907223
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:40906764..40908944-chr5:40910686..40913310,2	K562	blood:

Variant related genes	Relation type
ENSG00000253098	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10056097	0.81[EUR][1000 genomes]
rs1078376	1.00[ASN][1000 genomes]
rs11739984	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11741864	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11742894	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12153063	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12187430	1.00[ASN][1000 genomes]
rs1376179	1.00[ASN][1000 genomes]
rs34153616	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56095030	1.00[ASN][1000 genomes]
rs60001990	1.00[ASN][1000 genomes]
rs60714178	1.00[ASN][1000 genomes]
rs62357602	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62357607	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62357609	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62357613	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62357614	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62357615	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62357644	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62357645	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62357646	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62358578	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73088577	1.00[ASN][1000 genomes]
rs73750214	1.00[ASN][1000 genomes]
rs73750215	1.00[ASN][1000 genomes]
rs73750216	1.00[ASN][1000 genomes]
rs73750218	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881467	chr5:40869802-41008650	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv2757114	chr5:40874078-41009282	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv2759341	chr5:40874078-41009282	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv823055	chr5:40875708-41004839	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv35077	chr5:40875843-41000671	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv830268	chr5:40897361-41138366	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40904600-40909600	Weak transcription	Colon Smooth Muscle	Colon
2	chr5:40905200-40907400	Enhancers	Fetal Intestine Small	intestine
3	chr5:40905200-40909000	Weak transcription	Fetal Kidney	kidney
4	chr5:40905400-40907400	Weak transcription	Aorta	Aorta
5	chr5:40905400-40908600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr5:40905400-40908800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr5:40905400-40909200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:40905400-40909200	Weak transcription	Stomach Mucosa	stomach
9	chr5:40905400-40915000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr5:40905600-40908200	Weak transcription	Fetal Lung	lung
11	chr5:40905600-40909200	Weak transcription	Duodenum Mucosa	Duodenum
12	chr5:40905600-40909400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr5:40905600-40909800	Weak transcription	Liver	Liver
14	chr5:40905600-40915000	Weak transcription	Gastric	stomach
15	chr5:40906000-40909200	Weak transcription	Fetal Heart	heart
16	chr5:40906600-40908800	Weak transcription	Fetal Intestine Large	intestine
17	chr5:40906600-40909400	Weak transcription	Ovary	ovary
18	chr5:40906600-40909400	Weak transcription	Pancreas	Pancrea
19	chr5:40906800-40909400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:40907000-40908800	Weak transcription	HepG2	liver
21	chr5:40907000-40909400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr5:40907000-40909400	Weak transcription	Rectal Mucosa Donor 31	rectum

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