Variant report

Variant	rs12151204
Chromosome Location	chr19:21377388-21377389
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:21366435..21372841-chr19:21372957..21377596,6	K562	blood:

Variant related genes	Relation type
ENSG00000268995	Chromatin interaction
ENSG00000196705	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11881107	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12052171	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16997503	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17445374	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17445381	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs57941450	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58095420	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs59436607	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60870377	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs67716442	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7256860	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73028563	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73028565	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73028577	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs995655	0.90[AMR][1000 genomes];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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21366400-21380400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr19:21367000-21377800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr19:21367000-21379200	Weak transcription	Ovary	ovary
4	chr19:21367000-21380600	Weak transcription	Placenta	Placenta
5	chr19:21367200-21377600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr19:21367200-21377600	Weak transcription	Left Ventricle	heart
7	chr19:21367400-21379800	Weak transcription	K562	blood
8	chr19:21368600-21378000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr19:21369600-21377600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr19:21370000-21380000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr19:21370000-21382200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr19:21370200-21377600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr19:21370200-21381000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr19:21370600-21377600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr19:21370600-21380600	Weak transcription	Fetal Intestine Small	intestine
16	chr19:21370800-21378800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr19:21371000-21377600	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr19:21372800-21380400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr19:21373000-21380800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr19:21373200-21381800	Weak transcription	Dnd41	blood
21	chr19:21374400-21377600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr19:21374600-21380400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr19:21377200-21378000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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