Variant report

Variant	rs12126192
Chromosome Location	chr1:113436880-113436881
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr1:113435885-113437214	K562	blood:	n/a	chr1:113436055-113436076 chr1:113436062-113436069 chr1:113436062-113436069 chr1:113436062-113436069
2	TEAD4	chr1:113436254-113436895	K562	blood:	n/a	n/a
3	EP300	chr1:113436383-113436881	K562	blood:	n/a	n/a
4	CEBPD	chr1:113436308-113436895	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:113422181..113424521-chr1:113435432..113438293,2	K562	blood:
2	chr1:113429664..113431749-chr1:113436515..113438078,2	K562	blood:
3	chr1:113425134..113427690-chr1:113436011..113438422,2	K562	blood:

Variant related genes	Relation type
ENSG00000228040	TF binding region

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11102560	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12064292	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17440299	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17493313	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1936311	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2149036	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28556822	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3849174	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4838971	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4839270	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4839272	0.91[EUR][1000 genomes]
rs4839276	0.83[EUR][1000 genomes]
rs55982206	0.82[EUR][1000 genomes]
rs55992320	0.93[EUR][1000 genomes]
rs56007797	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56019044	0.83[EUR][1000 genomes]
rs56220197	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6676446	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6676864	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66899043	0.91[EUR][1000 genomes]
rs72683432	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72683434	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72683442	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72683453	0.89[EUR][1000 genomes]
rs72683454	0.91[EUR][1000 genomes]
rs72683459	0.82[EUR][1000 genomes]
rs7518984	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7524567	0.91[EUR][1000 genomes]
rs7536532	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7540321	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7542229	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7545602	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7548109	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7550843	0.92[EUR][1000 genomes]
rs7552903	0.94[EUR][1000 genomes]
rs9429505	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9429709	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9429710	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv1010276	chr1:113123932-113740584	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv533295	chr1:113167645-113589588	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	nsv1012119	chr1:113214869-113759081	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv535060	chr1:113214869-113759081	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
7	nsv529238	chr1:113229946-113759080	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
8	nsv1008434	chr1:113288282-113447426	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	nsv997426	chr1:113288282-113639507	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
10	nsv1004102	chr1:113295805-113551210	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
11	esv3399982	chr1:113358580-113542255	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
12	nsv999915	chr1:113360145-113684833	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
13	esv18293	chr1:113375437-113852815	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
14	esv3362439	chr1:113376621-113450321	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
15	nsv1007045	chr1:113425222-113839910	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
16	nsv946144	chr1:113428625-113446146	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12126192	SLC16A1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113434800-113439800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:113436600-113437000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
3	chr1:113436800-113437000	Flanking Active TSS	K562	blood
4	chr1:113436800-113437600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:113436800-113437800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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