Variant report

Variant	rs12144809
Chromosome Location	chr1:102571401-102571402
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:102569587..102571901-chr1:102578895..102580582,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-S1PR1-5	chr1:102571334-102571564	XLOC_000321

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10493977	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10782870	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10874541	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10874544	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10874545	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11164385	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11164389	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11164390	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11164392	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12022175	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12024534	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12025009	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12025034	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12029863	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12045519	0.84[EUR][1000 genomes]
rs12139479	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4457602	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4908216	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6577306	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6678536	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6704486	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522921	chr1:102170295-102876392	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	esv2422183	chr1:102450736-102796819	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv871085	chr1:102562640-102726399	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1007511	chr1:102563992-102768968	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:102568200-102571600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:102568400-102571800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr1:102570200-102572200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:102570200-102573200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr1:102570200-102573800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:102570400-102572000	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr1:102570400-102573000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr1:102570600-102571600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:102570600-102572200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:102570600-102572800	Weak transcription	Fetal Intestine Large	intestine
11	chr1:102570600-102573000	Weak transcription	Fetal Intestine Small	intestine
12	chr1:102570600-102573600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr1:102570800-102572000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
14	chr1:102570800-102573200	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr1:102571000-102572800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr1:102571000-102573200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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