Variant report

Variant	rs4640555
Chromosome Location	chr3:50588025-50588026
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:50473174..50474192-chr3:50587267..50588221,5	K562	blood:
2	chr3:50554289..50557093-chr3:50587538..50590064,2	K562	blood:
3	chr3:50586005..50588761-chr3:50650182..50653236,3	MCF-7	breast:
4	chr3:50587657..50590560-chr3:50595008..50597465,2	MCF-7	breast:
5	chr3:50586399..50591329-chr3:50605671..50609756,8	MCF-7	breast:
6	chr3:50376883..50379667-chr3:50587789..50590595,2	K562	blood:
7	chr3:50256257..50258599-chr3:50587633..50590520,2	K562	blood:
8	chr3:50473655..50474324-chr3:50587187..50588173,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000114735	Chromatin interaction
ENSG00000068028	Chromatin interaction
ENSG00000235058	Chromatin interaction
ENSG00000088543	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1077215	0.84[AMR][1000 genomes]
rs1107312	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12486143	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12487817	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12491812	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12492982	0.80[ASN][1000 genomes]
rs12494094	0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12494326	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12494707	0.92[AMR][1000 genomes]
rs17050991	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17050995	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17051000	0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1872184	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1894459	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2227292	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2227293	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2239750	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2239751	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2239752	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2239753	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2285090	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3749265	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3752449	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3792323	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3806706	0.85[ASN][1000 genomes]
rs4476497	0.82[ASN][1000 genomes]
rs4688707	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4688709	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4688710	0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4688713	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4688715	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4688716	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56170012	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs58427389	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs60552073	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs61193866	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs61316441	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs61574029	0.95[ASN][1000 genomes]
rs61613532	0.96[ASN][1000 genomes]
rs616689	0.85[ASN][1000 genomes]
rs650655	0.81[ASN][1000 genomes]
rs6766638	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6771348	0.82[ASN][1000 genomes]
rs6783922	0.82[ASN][1000 genomes]
rs72938758	0.96[ASN][1000 genomes]
rs73835531	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs743753	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs745356	0.82[ASN][1000 genomes]
rs762889	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs808148	0.82[ASN][1000 genomes]
rs876103	0.81[ASN][1000 genomes]
rs876104	0.80[ASN][1000 genomes]
rs876105	0.80[ASN][1000 genomes]
rs9868889	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1821728	chr3:50156142-50657253	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv876770	chr3:50158774-50609624	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	nsv1001993	chr3:50187646-50640808	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
4	esv3584502	chr3:50368278-50659741	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv432419	chr3:50388396-50637496	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv1013225	chr3:50440826-50700448	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv536566	chr3:50440826-50700448	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv984540	chr3:50473691-50669310	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
9	nsv1012501	chr3:50483037-50679591	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
10	nsv536567	chr3:50483037-50679591	Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	nsv460532	chr3:50536273-50616049	Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	17 gene(s)	inside rSNPs	diseases
12	nsv590272	chr3:50536273-50616049	Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	17 gene(s)	inside rSNPs	diseases
13	nsv460533	chr3:50574213-50678151	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
14	nsv590273	chr3:50574213-50678151	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50578600-50595800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr3:50583600-50603400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr3:50584400-50592400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr3:50586000-50597200	Weak transcription	Right Atrium	heart
5	chr3:50586200-50589200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr3:50586800-50588400	Weak transcription	NHEK	skin
7	chr3:50586800-50588800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr3:50586800-50590000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr3:50586800-50590400	Enhancers	Fetal Muscle Leg	muscle
10	chr3:50587000-50588200	Enhancers	H1 Cell Line	embryonic stem cell
11	chr3:50587000-50588400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr3:50587000-50589800	Enhancers	Fetal Stomach	stomach
13	chr3:50587200-50592800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr3:50587400-50589200	Enhancers	Placenta	Placenta
15	chr3:50587600-50588600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr3:50587600-50592600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr3:50587600-50603800	Weak transcription	Brain Anterior Caudate	brain
18	chr3:50587800-50588400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr3:50587800-50589000	Enhancers	HMEC	breast
20	chr3:50587800-50589400	Enhancers	Fetal Intestine Large	intestine
21	chr3:50587800-50589800	Enhancers	Fetal Intestine Small	intestine
22	chr3:50588000-50588200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr3:50588000-50589200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr3:50588000-50589600	Enhancers	Fetal Lung	lung
25	chr3:50588000-50590000	Enhancers	Fetal Heart	heart
26	chr3:50588000-50591800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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