Variant report

Variant	rs4808138
Chromosome Location	chr19:18720981-18720982
allele	C/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	NR2F2	chr19:18720900-18722132	HepG2	liver:	n/a	chr19:18722014-18722029
2	FOXA2	chr19:18720946-18721588	HepG2	liver:	n/a	n/a
3	POLR2A	chr19:18719758-18723372	HepG2	liver:	n/a	n/a
4	MYBL2	chr19:18720977-18721733	HepG2	liver:	n/a	n/a
5	EP300	chr19:18720368-18722181	HepG2	liver:	n/a	chr19:18721667-18721676 chr19:18721839-18721855
6	SP1	chr19:18720956-18722007	HepG2	liver:	n/a	chr19:18721875-18721884 chr19:18721463-18721477 chr19:18721654-18721668 chr19:18721752-18721766 chr19:18721751-18721763 chr19:18721435-18721449

No.	Distal block	Cell Line	Cell type
1	chr19:18720681..18723578-chr19:18792529..18794058,2	K562	blood:
2	chr19:18719600..18721808-chr19:18793150..18795640,2	MCF-7	breast:
3	chr19:18714423..18716001-chr19:18720923..18723094,2	K562	blood:
4	chr19:18715795..18719274-chr19:18719391..18724999,7	MCF-7	breast:
5	chr19:18714258..18716711-chr19:18719461..18722423,3	K562	blood:
6	chr19:18713204..18718867-chr19:18719015..18725496,7	MCF-7	breast:
7	chr19:18700084..18702080-chr19:18719094..18721979,3	K562	blood:

Variant related genes	Relation type
TMEM59L	TF binding region
CRLF1	TF binding region
ENSG00000006015	Chromatin interaction
ENSG00000105696	Chromatin interaction
ENSG00000006016	Chromatin interaction
ENSG00000105662	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10415560	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1043192	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1862645	0.90[ASN][1000 genomes]
rs1966500	0.81[ASN][1000 genomes]
rs2238650	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3170474	0.89[EUR][1000 genomes]
rs3761032	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4808824	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4808835	0.87[AMR][1000 genomes]
rs4808837	0.80[ASN][1000 genomes]
rs4808838	0.80[AMR][1000 genomes]
rs6417264	0.89[EUR][1000 genomes]
rs6510993	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs709679	1.00[ASN][1000 genomes]
rs7248037	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7250192	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7250623	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7252198	0.88[EUR][1000 genomes]
rs7256319	0.91[EUR][1000 genomes]
rs7259557	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7359896	0.82[AMR][1000 genomes]
rs916791	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057795	chr19:18453362-18883844	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv543925	chr19:18453362-18883844	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv532615	chr19:18534867-18796031	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
4	nsv911281	chr19:18613917-18758255	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv911282	chr19:18624964-18928480	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
6	nsv833776	chr19:18638028-18782264	Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
7	nsv911286	chr19:18652844-18811112	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	nsv911287	chr19:18699333-18727913	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
9	nsv911288	chr19:18700047-18739497	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
10	nsv911289	chr19:18700047-18811112	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
11	nsv911290	chr19:18701499-18720981	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
12	nsv911291	chr19:18701499-18726856	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
13	nsv911292	chr19:18701499-18731658	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18718400-18721200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
2	chr19:18718400-18721400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
3	chr19:18718800-18721400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr19:18718800-18721400	Flanking Active TSS	HepG2	liver
5	chr19:18718800-18721800	Weak transcription	Right Atrium	heart
6	chr19:18719000-18721200	Weak transcription	HSMM	muscle
7	chr19:18719000-18721400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
8	chr19:18719000-18721400	Weak transcription	Pancreas	Pancrea
9	chr19:18719400-18721400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr19:18720000-18721000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr19:18720200-18721400	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
12	chr19:18720400-18721400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
13	chr19:18720400-18721400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr19:18720600-18721000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr19:18720600-18721200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
16	chr19:18720600-18721200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
17	chr19:18720600-18721200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
18	chr19:18720600-18721400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
19	chr19:18720600-18723000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr19:18720600-18723200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr19:18720600-18723200	Bivalent Enhancer	Fetal Muscle Leg	muscle
22	chr19:18720800-18721600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
23	chr19:18720800-18722800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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