Variant report

Variant	rs1620497
Chromosome Location	chr3:112804954-112804955
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1795171	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1797611	1.00[EUR][1000 genomes]
rs2613942	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2613959	1.00[EUR][1000 genomes]
rs2633498	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58310808	1.00[AMR][1000 genomes]
rs59096077	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59899693	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60040013	1.00[EUR][1000 genomes]
rs61438638	0.85[AMR][1000 genomes]
rs6795832	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73853712	1.00[EUR][1000 genomes]
rs73853719	1.00[EUR][1000 genomes]
rs73854001	0.85[AMR][1000 genomes]
rs73857303	0.85[AMR][1000 genomes]
rs73857304	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73857305	0.85[AMR][1000 genomes]
rs73857307	0.85[AMR][1000 genomes]
rs9784314	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9784379	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9784380	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9784381	1.00[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	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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112784800-112824000	Weak transcription	Primary B cells from cord blood	blood
2	chr3:112792200-112807000	Weak transcription	Primary T cells from cord blood	blood
3	chr3:112798600-112805400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr3:112799000-112805800	Weak transcription	A549	lung
5	chr3:112799000-112807400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr3:112799200-112805200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:112799200-112805200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr3:112799200-112805200	Weak transcription	Brain Germinal Matrix	brain
9	chr3:112799200-112806400	Weak transcription	Fetal Muscle Leg	muscle
10	chr3:112803000-112807600	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr3:112803200-112806000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:112803400-112805800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr3:112803600-112806000	Weak transcription	Fetal Lung	lung
14	chr3:112803800-112806000	Weak transcription	Fetal Stomach	stomach
15	chr3:112804000-112805000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr3:112804000-112808000	Weak transcription	Adipose Nuclei	Adipose
17	chr3:112804200-112806600	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr3:112804200-112807200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr3:112804200-112808000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr3:112804400-112806400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr3:112804600-112807000	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr3:112804600-112807200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr3:112804600-112807800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr3:112804800-112806400	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr3:112804800-112807200	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr3:112804800-112807400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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