Variant report

Variant	rs4097353
Chromosome Location	chr1:180549856-180549857
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:180548462..180550838-chr1:180552772..180555647,2	K562	blood:
2	chr1:180494034..180495925-chr1:180548786..180551301,2	MCF-7	breast:
3	chr1:180544457..180546986-chr1:180548754..180551276,2	MCF-7	breast:
4	chr1:180542566..180545271-chr1:180548780..180551129,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10753218	0.83[ASN][1000 genomes]
rs10798779	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10798782	0.93[ASN][1000 genomes]
rs10914041	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12028578	0.92[ASN][1000 genomes]
rs12032249	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12562357	0.89[ASN][1000 genomes]
rs9803871	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9804047	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
2	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv872578	chr1:180510771-180842344	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr1:180546600-180550400	Weak transcription	NH-A	brain
2	chr1:180548600-180550000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr1:180548600-180550400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:180548600-180550600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:180548600-180551000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr1:180548800-180551000	Enhancers	HMEC	breast
7	chr1:180548800-180551400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:180549000-180550000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:180549000-180550200	Enhancers	Pancreas	Pancrea
10	chr1:180549000-180551000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:180549000-180551200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:180549000-180551400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:180549000-180552000	Enhancers	Osteobl	bone
14	chr1:180549200-180550000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:180549200-180550800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:180549200-180551200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:180549200-180551200	Enhancers	Placenta	Placenta
18	chr1:180549200-180555600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr1:180549400-180550200	Enhancers	NHEK	skin
20	chr1:180549400-180550400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:180549400-180550400	Enhancers	K562	blood
22	chr1:180549400-180554800	Weak transcription	Stomach Mucosa	stomach
23	chr1:180549800-180550200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:180549800-180550600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr1:180549800-180553800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:180549800-180554800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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