Variant report

Variant	rs13042418
Chromosome Location	chr20:22991000-22991001
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:22986706..22988223-chr20:22990403..22992158,2	MCF-7	breast:
2	chr20:22902861..22905382-chr20:22990891..22992574,2	MCF-7	breast:
3	chr20:22986137..22988546-chr20:22990911..22992572,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10485639	0.90[EUR][1000 genomes]
rs13036275	0.84[EUR][1000 genomes]
rs1331071	0.90[EUR][1000 genomes]
rs1883956	0.90[EUR][1000 genomes]
rs2207106	0.85[CEU][hapmap]
rs2268199	0.82[JPT][hapmap]
rs34112928	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34217171	0.90[EUR][1000 genomes]
rs34854430	0.84[EUR][1000 genomes]
rs34980833	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35745073	0.90[EUR][1000 genomes]
rs3746726	0.82[JPT][hapmap]
rs3746728	0.82[JPT][hapmap]
rs6076008	0.81[EUR][1000 genomes]
rs6082974	0.86[EUR][1000 genomes]
rs6082975	0.88[CEU][hapmap];0.89[JPT][hapmap];0.90[EUR][1000 genomes]
rs6082977	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6082986	0.82[JPT][hapmap]
rs8120756	0.82[JPT][hapmap]
rs8125104	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs874585	0.96[CEU][hapmap];0.81[CHB][hapmap];0.85[JPT][hapmap];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912816	chr20:22757960-23062927	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22988400-22993400	Weak transcription	Aorta	Aorta
2	chr20:22988400-22995600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr20:22988800-22992000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr20:22989400-22991000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr20:22990200-22991000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr20:22990200-22991000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr20:22990200-22991000	Enhancers	Gastric	stomach
8	chr20:22990200-22991000	Enhancers	Right Ventricle	heart
9	chr20:22990200-22991000	Enhancers	Stomach Mucosa	stomach
10	chr20:22990200-22991000	Enhancers	HSMMtube	muscle
11	chr20:22990200-22991200	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr20:22990200-22991200	Enhancers	Lung	lung
13	chr20:22990200-22991200	Enhancers	HMEC	breast
14	chr20:22990200-22992400	Enhancers	Placenta Amnion	Placenta Amnion
15	chr20:22990400-22991000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr20:22990600-22991000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr20:22990600-22991000	Enhancers	Dnd41	blood
18	chr20:22990800-22991200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr20:22990800-22991200	Enhancers	Fetal Heart	heart
20	chr20:22990800-22991200	Enhancers	A549	lung
21	chr20:22990800-22993200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr20:22990800-22994000	Weak transcription	HSMM	muscle
23	chr20:22990800-22994000	Weak transcription	NHEK	skin
24	chr20:22991000-22993200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr20:22991000-22993400	Weak transcription	Right Ventricle	heart
26	chr20:22991000-22994000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr20:22991000-22994000	Weak transcription	HSMMtube	muscle
28	chr20:22991000-22995600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr20:22991000-22995600	Weak transcription	Dnd41	blood

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