Variant report

Variant	rs74138559
Chromosome Location	chr1:212767520-212767521
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212758746..212766071-chr1:212766312..212770844,12	K562	blood:
2	chr1:212729441..212732578-chr1:212767318..212772048,4	K562	blood:
3	chr1:212743371..212746818-chr1:212766320..212768698,3	K562	blood:

Variant related genes	Relation type
ENSG00000260805	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11801740	1.00[EUR][1000 genomes]
rs11802845	1.00[EUR][1000 genomes]
rs11807916	1.00[EUR][1000 genomes]
rs12739715	1.00[ASN][1000 genomes]
rs1284800	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17019266	1.00[ASN][1000 genomes]
rs17019397	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17019640	1.00[EUR][1000 genomes]
rs17019657	1.00[EUR][1000 genomes]
rs2007776	1.00[ASN][1000 genomes]
rs2456815	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2501845	1.00[AMR][1000 genomes]
rs3001261	1.00[ASN][1000 genomes]
rs492231	1.00[ASN][1000 genomes]
rs498564	1.00[ASN][1000 genomes]
rs55787749	1.00[EUR][1000 genomes]
rs55827218	1.00[EUR][1000 genomes]
rs56085986	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56396668	1.00[EUR][1000 genomes]
rs58725225	1.00[EUR][1000 genomes]
rs593750	1.00[ASN][1000 genomes]
rs60334006	1.00[EUR][1000 genomes]
rs641053	1.00[ASN][1000 genomes]
rs648577	1.00[ASN][1000 genomes]
rs6680374	1.00[ASN][1000 genomes]
rs6685348	1.00[EUR][1000 genomes]
rs6700258	1.00[EUR][1000 genomes]
rs71646161	1.00[ASN][1000 genomes]
rs74138553	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74138622	1.00[EUR][1000 genomes]
rs74138623	1.00[EUR][1000 genomes]
rs74138629	1.00[EUR][1000 genomes]
rs74138630	1.00[EUR][1000 genomes]
rs74138631	1.00[EUR][1000 genomes]
rs74138632	1.00[EUR][1000 genomes]
rs74138633	1.00[EUR][1000 genomes]
rs74138636	1.00[EUR][1000 genomes]
rs74138700	1.00[EUR][1000 genomes]
rs74140027	1.00[EUR][1000 genomes]
rs74140030	1.00[EUR][1000 genomes]
rs74140031	1.00[EUR][1000 genomes]
rs74140032	1.00[EUR][1000 genomes]
rs74141106	1.00[EUR][1000 genomes]
rs7511916	1.00[EUR][1000 genomes]
rs7530106	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7549085	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7551910	1.00[ASN][1000 genomes]
rs7551969	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
3	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
4	esv2757770	chr1:212648143-212843103	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
5	esv2758996	chr1:212648143-212843103	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
6	nsv428588	chr1:212705588-212862875	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212754000-212769200	Weak transcription	Spleen	Spleen
2	chr1:212761800-212768000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:212761800-212768600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr1:212765000-212768800	Weak transcription	Fetal Intestine Large	intestine
5	chr1:212766800-212768800	Enhancers	Hela-S3	cervix
6	chr1:212766800-212769400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:212766800-212771200	Enhancers	Placenta	Placenta
8	chr1:212767200-212767600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr1:212767200-212769000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:212767200-212769200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:212767200-212769200	Enhancers	Placenta Amnion	Placenta Amnion
12	chr1:212767200-212769400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:212767200-212769400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:212767200-212770200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:212767200-212770600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr1:212767400-212767600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr1:212767400-212767600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:212767400-212769000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:212767400-212769800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:212767400-212770400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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