Variant report

Variant	rs28500793
Chromosome Location	chr19:21313015-21313016
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	chr19:21312896..21314771-chr19:21323680..21326350,2	K562	blood:

Variant related genes	Relation type
ENSG00000196705	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10401988	0.83[AMR][1000 genomes]
rs10402207	0.83[AMR][1000 genomes]
rs10404877	0.85[AMR][1000 genomes]
rs10406243	0.83[AMR][1000 genomes]
rs10406276	0.83[AMR][1000 genomes]
rs10406390	0.83[AMR][1000 genomes]
rs10407928	0.83[AMR][1000 genomes]
rs10408543	0.83[AMR][1000 genomes]
rs10411360	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10411471	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10413561	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10424613	0.83[AMR][1000 genomes]
rs10425664	0.83[AMR][1000 genomes]
rs11880964	0.83[AMR][1000 genomes]
rs13345905	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13346419	0.85[AMR][1000 genomes]
rs28394595	0.83[AMR][1000 genomes]
rs28635135	0.83[AMR][1000 genomes]
rs28858186	0.83[AMR][1000 genomes]
rs35569945	0.83[AMR][1000 genomes]
rs58830061	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs59498150	0.83[AMR][1000 genomes]
rs7247708	0.83[AMR][1000 genomes]
rs7250059	0.83[AMR][1000 genomes]
rs73531822	0.83[AMR][1000 genomes]
rs73537710	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73537721	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73537753	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3385528	chr19:21030777-21495566	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv817536	chr19:21041855-21348237	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv960811	chr19:21200306-21371757	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv3399352	chr19:21232738-21423323	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv1065384	chr19:21249321-21350698	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv911413	chr19:21263518-21347598	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	esv3319019	chr19:21268262-21336383	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	esv3319020	chr19:21268262-21336383	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
9	esv7695	chr19:21268276-21328430	Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
10	esv5909	chr19:21272333-21334753	Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
11	esv3420290	chr19:21272477-21336432	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
12	esv3391713	chr19:21272485-21334631	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
13	esv5243	chr19:21272548-21334670	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
14	esv7204	chr19:21274198-21336396	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
15	esv3518033	chr19:21278465-21747567	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
16	esv3518034	chr19:21278465-21747567	ZNF genes & repeats Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription 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	41 gene(s)	inside rSNPs	diseases
17	esv3414204	chr19:21301761-21839451	ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21309400-21313400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr19:21311200-21313400	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr19:21312000-21314200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr19:21312400-21313400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr19:21312400-21313800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr19:21312600-21313200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr19:21312600-21313200	Weak transcription	Pancreas	Pancrea
8	chr19:21312800-21313400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr19:21313000-21313200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr19:21313000-21313400	Enhancers	H1 Cell Line	embryonic stem cell
11	chr19:21313000-21313400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr19:21313000-21313400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr19:21313000-21314000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr19:21313000-21316800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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