Variant report

Variant	rs17013309
Chromosome Location	chr4:129372023-129372024
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:129211182..129212819-chr4:129370121..129372268,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10020418	1.00[AMR][1000 genomes]
rs10025252	1.00[AMR][1000 genomes]
rs11947006	1.00[MKK][hapmap]
rs1216403	1.00[AMR][1000 genomes]
rs17013120	0.80[YRI][hapmap]
rs17013235	1.00[MKK][hapmap];0.80[YRI][hapmap]
rs17013261	0.80[AFR][1000 genomes]
rs17013279	0.89[YRI][hapmap];0.87[AFR][1000 genomes]
rs17013283	0.89[YRI][hapmap];0.87[AFR][1000 genomes]
rs28422810	1.00[AMR][1000 genomes]
rs28612367	1.00[AMR][1000 genomes]
rs28670624	1.00[AMR][1000 genomes]
rs28689154	1.00[AMR][1000 genomes]
rs60266924	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60416613	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60685389	0.87[AFR][1000 genomes]
rs6835797	1.00[AMR][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	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 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	chr4:129363200-129372400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:129367200-129372400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:129367200-129375400	Weak transcription	Fetal Intestine Small	intestine
4	chr4:129367200-129376200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:129368800-129376200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:129370000-129378800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:129370200-129372200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr4:129370400-129375600	Enhancers	NHDF-Ad	bronchial
9	chr4:129370800-129375200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr4:129371200-129372200	Enhancers	Rectal Smooth Muscle	rectum
11	chr4:129371200-129372800	Enhancers	Psoas Muscle	Psoas
12	chr4:129371200-129373600	Weak transcription	Adipose Nuclei	Adipose
13	chr4:129371200-129374000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr4:129371400-129372400	Weak transcription	A549	lung
15	chr4:129371400-129373000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:129371400-129375400	Weak transcription	Colon Smooth Muscle	Colon
17	chr4:129371600-129372800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr4:129371600-129373000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr4:129371800-129372600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr4:129371800-129372800	Enhancers	NHEK	skin
21	chr4:129372000-129373600	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr4:129372000-129375000	Weak transcription	Muscle Satellite Cultured Cells	--

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