Variant report

Variant	rs2204789
Chromosome Location	chr3:112851284-112851285
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10511319	0.84[ASN][1000 genomes]
rs10934222	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11712319	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11716722	0.90[ASN][1000 genomes]
rs11720141	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12490566	0.87[ASN][1000 genomes]
rs12631163	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12631199	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12634099	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2178398	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2204788	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2700229	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3732812	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4528911	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4555493	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs62262801	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs62264166	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6770160	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs871595	0.89[ASN][1000 genomes]
rs9855348	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][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	esv3431441	chr3:112453467-113213252	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv877344	chr3:112789865-112854339	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112847600-112851600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:112847600-112851600	Weak transcription	HSMM	muscle
3	chr3:112847600-112851800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr3:112847600-112851800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr3:112847800-112851400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr3:112847800-112851800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:112847800-112866800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr3:112848000-112851400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr3:112848000-112852000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr3:112848400-112851400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr3:112848400-112851600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr3:112848600-112851400	Weak transcription	NHDF-Ad	bronchial
13	chr3:112849400-112865200	Weak transcription	Fetal Stomach	stomach
14	chr3:112849600-112851400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr3:112849800-112854800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr3:112850800-112852400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr3:112851000-112852000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr3:112851200-112852000	Enhancers	HSMMtube	muscle
19	chr3:112851200-112852000	Enhancers	NHEK	skin
20	chr3:112851200-112852000	Enhancers	Osteobl	bone
21	chr3:112851200-112852400	Enhancers	Colon Smooth Muscle	Colon

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