Variant report

Variant	rs995655
Chromosome Location	chr19:21379157-21379158
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11881107	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12052171	0.82[EUR][1000 genomes]
rs12151204	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16997503	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16997512	1.00[ASN][1000 genomes]
rs17445374	0.82[EUR][1000 genomes]
rs17445381	0.82[EUR][1000 genomes]
rs17447970	1.00[ASN][1000 genomes]
rs57941450	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58095420	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59436607	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs60870377	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs67716442	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7256860	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73028563	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73028565	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73028577	0.90[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	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	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
3	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
4	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
5	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
6	nsv911414	chr19:21355473-21454672	Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21366400-21380400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr19:21367000-21379200	Weak transcription	Ovary	ovary
3	chr19:21367000-21380600	Weak transcription	Placenta	Placenta
4	chr19:21367400-21379800	Weak transcription	K562	blood
5	chr19:21370000-21380000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr19:21370000-21382200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr19:21370200-21381000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr19:21370600-21380600	Weak transcription	Fetal Intestine Small	intestine
9	chr19:21372800-21380400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr19:21373000-21380800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr19:21373200-21381800	Weak transcription	Dnd41	blood
12	chr19:21374600-21380400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr19:21377800-21381800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr19:21378000-21381200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr19:21378200-21379200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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