Variant report

Variant	rs12405785
Chromosome Location	chr1:173013172-173013173
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:173011823..173014538-chr1:173018391..173020709,2	K562	blood:
2	chr1:173013039..173013740-chr3:135789899..135790668,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000120337	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10489271	0.86[AMR][1000 genomes]
rs12401349	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12406059	0.95[AMR][1000 genomes]
rs16828402	0.82[AMR][1000 genomes]
rs16845403	0.82[AMR][1000 genomes]
rs16845438	0.82[AMR][1000 genomes]
rs16845442	0.82[AMR][1000 genomes]
rs2207057	0.90[AMR][1000 genomes]
rs2207059	0.90[AMR][1000 genomes]
rs2422273	0.90[AMR][1000 genomes]
rs3820653	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4916206	0.82[AMR][1000 genomes]
rs4916298	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4916305	0.82[AMR][1000 genomes]
rs714991	0.90[AMR][1000 genomes];1.00[EUR][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	nsv831904	chr1:172912110-173070429	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv533953	chr1:172939335-173133255	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr1:173011400-173013600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr1:173011600-173013200	Enhancers	Muscle Satellite Cultured Cells	--
3	chr1:173011600-173013200	Enhancers	Dnd41	blood
4	chr1:173012000-173013200	Enhancers	Stomach Mucosa	stomach
5	chr1:173012000-173013400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:173012200-173013200	Enhancers	HSMMtube	muscle
7	chr1:173012600-173013400	Enhancers	NH-A	brain
8	chr1:173012600-173017400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:173012600-173017400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:173012800-173016600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:173012800-173017200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:173013000-173014200	Enhancers	HUVEC	blood vessel
13	chr1:173013000-173016000	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr1:173013000-173016200	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr1:173013000-173016400	Weak transcription	HMEC	breast
16	chr1:173013000-173016400	Weak transcription	NHEK	skin
17	chr1:173013000-173017000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:173013000-173017200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:173013000-173017200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:173013000-173017200	Weak transcription	Hela-S3	cervix
21	chr1:173013000-173017400	Weak transcription	A549	lung
22	chr1:173013000-173017400	Weak transcription	HSMM	muscle
23	chr1:173013000-173017400	Weak transcription	NHDF-Ad	bronchial
24	chr1:173013000-173017600	Weak transcription	Osteobl	bone
25	chr1:173013000-173017800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:173013000-173018000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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