Variant report

Variant	rs57673161
Chromosome Location	chr12:58706691-58706692
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:58702456..58704954-chr12:58705932..58708062,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs2101781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55817245	1.00[AMR][1000 genomes]
rs55910119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56407862	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59596814	1.00[AMR][1000 genomes]
rs61571539	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74095956	1.00[AMR][1000 genomes]
rs74096840	1.00[AMR][1000 genomes]
rs74096846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74096847	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74096849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74096851	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74096853	1.00[AMR][1000 genomes]
rs74096854	1.00[AMR][1000 genomes]
rs74096855	1.00[AMR][1000 genomes]
rs74096856	1.00[AMR][1000 genomes]
rs74096864	1.00[AMR][1000 genomes]
rs74096865	1.00[AMR][1000 genomes]
rs74096866	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899124	chr12:58391839-58883507	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv730	chr12:58698792-58759096	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58705000-58708200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:58705400-58706800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr12:58705400-58706800	Weak transcription	NHLF	lung
4	chr12:58705400-58707000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr12:58705400-58707000	Weak transcription	HSMM	muscle
6	chr12:58705400-58707200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:58705400-58707200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:58705400-58708000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr12:58705400-58708200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr12:58705400-58708200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr12:58705400-58709000	Enhancers	HUVEC	blood vessel
12	chr12:58705400-58710000	Weak transcription	Fetal Intestine Large	intestine
13	chr12:58705600-58707000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:58705600-58707000	Weak transcription	NHEK	skin
15	chr12:58705800-58706800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr12:58705800-58706800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:58705800-58706800	Weak transcription	NHDF-Ad	bronchial
18	chr12:58705800-58707000	Weak transcription	HMEC	breast
19	chr12:58706200-58709200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr12:58706200-58709400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:58706400-58709000	Enhancers	Osteobl	bone
22	chr12:58706600-58707000	Enhancers	Muscle Satellite Cultured Cells	--
23	chr12:58706600-58707000	Enhancers	NH-A	brain
24	chr12:58706600-58708600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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