Variant report

Variant	rs4284216
Chromosome Location	chr1:79351153-79351154
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11162565	0.83[ASN][1000 genomes]
rs12026347	0.86[ASN][1000 genomes]
rs12037077	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12037897	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12401934	0.86[ASN][1000 genomes]
rs1248483	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1489398	0.97[ASN][1000 genomes]
rs1532102	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1552571	0.94[ASN][1000 genomes]
rs1552572	0.94[ASN][1000 genomes]
rs1552573	0.94[ASN][1000 genomes]
rs1632786	0.92[ASN][1000 genomes]
rs1686340	0.94[ASN][1000 genomes]
rs1686342	0.97[ASN][1000 genomes]
rs1780709	0.96[ASN][1000 genomes]
rs1780731	0.94[ASN][1000 genomes]
rs1937016	0.90[ASN][1000 genomes]
rs1968952	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1968953	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1968954	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2054927	0.97[ASN][1000 genomes]
rs2352520	0.87[ASN][1000 genomes]
rs2801027	0.94[ASN][1000 genomes]
rs28813447	0.93[ASN][1000 genomes]
rs2932176	0.95[ASN][1000 genomes]
rs2932177	0.87[ASN][1000 genomes]
rs2996691	0.94[ASN][1000 genomes]
rs2996693	0.87[ASN][1000 genomes]
rs2996694	0.86[ASN][1000 genomes]
rs3012079	0.94[ASN][1000 genomes]
rs3012080	0.96[ASN][1000 genomes]
rs3012084	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4515744	0.85[ASN][1000 genomes]
rs6680564	0.86[ASN][1000 genomes]
rs6694893	0.86[ASN][1000 genomes]
rs7355057	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871835	chr1:78528803-79501129	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv491784	chr1:79146141-79853482	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv526221	chr1:79197624-79487080	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv817535	chr1:79203834-79473089	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv999624	chr1:79230028-79448222	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv535013	chr1:79230028-79448222	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv546619	chr1:79233493-79614989	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	esv2830430	chr1:79310760-79555593	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1010441	chr1:79320299-79555315	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:79348600-79405600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:79350200-79351200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr1:79350200-79351200	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr1:79350200-79351400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:79350200-79351400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr1:79350400-79351200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr1:79350400-79351200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:79350400-79351200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:79350400-79351200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:79350400-79351200	Flanking Active TSS	Hela-S3	cervix
11	chr1:79350400-79351200	Enhancers	NH-A	brain
12	chr1:79350400-79351400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr1:79350400-79351400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:79350400-79351600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr1:79350600-79351200	Enhancers	H1 Cell Line	embryonic stem cell
16	chr1:79350600-79351200	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr1:79350600-79351200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:79350600-79351200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:79350600-79351200	Enhancers	Stomach Smooth Muscle	stomach
20	chr1:79350600-79351600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr1:79350800-79351200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr1:79350800-79351200	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr1:79350800-79351200	Enhancers	NHDF-Ad	bronchial
24	chr1:79350800-79358600	Strong transcription	HUVEC	blood vessel
25	chr1:79351000-79360800	Weak transcription	Left Ventricle	heart
26	chr1:79351000-79365600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:79351000-79367600	Weak transcription	Adipose Nuclei	Adipose

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