Variant report

Variant	rs29728
Chromosome Location	chr19:21373559-21373560
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:
2	chr19:21257717..21259573-chr19:21372943..21374798,2	K562	blood:

Variant related genes	Relation type
ENSG00000268995	Chromatin interaction
ENSG00000196705	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10406253	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10407190	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11668640	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12980860	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs193900	0.81[ASN][1000 genomes]
rs2115498	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2358807	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2358808	0.94[ASN][1000 genomes]
rs250002	0.80[ASN][1000 genomes]
rs250003	0.80[ASN][1000 genomes]
rs29703	0.89[ASN][1000 genomes]
rs29705	0.89[ASN][1000 genomes]
rs29715	0.87[ASN][1000 genomes]
rs29720	0.87[ASN][1000 genomes]
rs29722	0.93[ASN][1000 genomes]
rs29725	0.95[ASN][1000 genomes]
rs29729	0.97[ASN][1000 genomes]
rs30109	0.84[ASN][1000 genomes]
rs30111	0.84[ASN][1000 genomes]
rs388229	0.95[ASN][1000 genomes]
rs416001	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57941450	0.83[AFR][1000 genomes]
rs6511202	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6511204	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6511205	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7248419	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7257196	0.85[ASN][1000 genomes]
rs7259368	0.83[ASN][1000 genomes]
rs8101918	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8108314	0.80[ASN][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:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21363800-21374000	Weak transcription	Pancreas	Pancrea
2	chr19:21365800-21374400	Weak transcription	Hela-S3	cervix
3	chr19:21366400-21380400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr19:21367000-21377200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr19:21367000-21377800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr19:21367000-21379200	Weak transcription	Ovary	ovary
7	chr19:21367000-21380600	Weak transcription	Placenta	Placenta
8	chr19:21367200-21374400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr19:21367200-21374400	Weak transcription	Fetal Muscle Leg	muscle
10	chr19:21367200-21375600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr19:21367200-21377600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr19:21367200-21377600	Weak transcription	Left Ventricle	heart
13	chr19:21367400-21379800	Weak transcription	K562	blood
14	chr19:21367800-21373800	Weak transcription	HSMMtube	muscle
15	chr19:21368600-21374600	Weak transcription	Fetal Brain Female	brain
16	chr19:21368600-21374600	Weak transcription	Fetal Lung	lung
17	chr19:21368600-21378000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr19:21369000-21375800	Weak transcription	Fetal Stomach	stomach
19	chr19:21369200-21375200	Weak transcription	Primary hematopoietic stem cells	blood
20	chr19:21369400-21374200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr19:21369400-21374600	Weak transcription	Brain Germinal Matrix	brain
22	chr19:21369600-21377600	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr19:21370000-21380000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr19:21370000-21382200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr19:21370200-21374400	Weak transcription	Thymus	Thymus
26	chr19:21370200-21377600	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr19:21370200-21381000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr19:21370600-21374000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr19:21370600-21374400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr19:21370600-21377600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr19:21370600-21380600	Weak transcription	Fetal Intestine Small	intestine
32	chr19:21370800-21378800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr19:21371000-21373800	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr19:21371000-21373800	Weak transcription	Esophagus	oesophagus
35	chr19:21371000-21374200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr19:21371000-21374600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr19:21371000-21377600	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr19:21372200-21374600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr19:21372800-21374600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr19:21372800-21374600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr19:21372800-21380400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr19:21373000-21374400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr19:21373000-21375800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr19:21373000-21375800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr19:21373000-21380800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr19:21373200-21377000	Weak transcription	HSMM	muscle
47	chr19:21373200-21381800	Weak transcription	Dnd41	blood
48	chr19:21373400-21376600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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