Variant report

Variant	rs62137822
Chromosome Location	chr19:19731856-19731857
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:19731308..19733665-chr19:19773420..19775288,2	K562	blood:
2	chr19:19730102..19732820-chr19:19733622..19735191,2	MCF-7	breast:
3	chr19:19730445..19732435-chr19:19735094..19738509,3	K562	blood:
4	chr19:19729636..19731895-chr19:19746385..19749069,2	K562	blood:
5	chr19:19651405..19654732-chr19:19727842..19732175,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000089639	Chromatin interaction
ENSG00000160161	Chromatin interaction
ENSG00000105726	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12611058	0.93[EUR][1000 genomes]
rs12974028	0.85[EUR][1000 genomes]
rs12977917	0.89[EUR][1000 genomes]
rs12981270	0.89[EUR][1000 genomes]
rs12982628	0.87[EUR][1000 genomes]
rs12985142	0.85[EUR][1000 genomes]
rs1476459	0.98[EUR][1000 genomes]
rs33982830	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34096655	0.94[EUR][1000 genomes]
rs34316070	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34316527	0.87[EUR][1000 genomes]
rs34324119	0.87[EUR][1000 genomes]
rs34424437	0.91[EUR][1000 genomes]
rs35209041	0.98[EUR][1000 genomes]
rs35437712	0.99[EUR][1000 genomes]
rs35553578	0.89[EUR][1000 genomes]
rs35842591	0.91[EUR][1000 genomes]
rs56083851	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62134460	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62137783	0.89[EUR][1000 genomes]
rs62137816	0.93[EUR][1000 genomes]
rs62137820	0.97[EUR][1000 genomes]
rs7247165	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73004920	0.87[EUR][1000 genomes]
rs750216	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1828240	chr19:19591146-19900900	Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1063273	chr19:19591146-20061367	ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv911309	chr19:19727042-19784891	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19729800-19734600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr19:19729800-19738600	Weak transcription	Right Atrium	heart
3	chr19:19729800-19744400	Weak transcription	HSMMtube	muscle
4	chr19:19730000-19733200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr19:19730000-19733400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr19:19730000-19733400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr19:19730000-19733400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr19:19730000-19733400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr19:19730000-19733400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr19:19730000-19734200	Weak transcription	K562	blood
11	chr19:19730000-19734400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr19:19730000-19734600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr19:19730000-19734600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr19:19730000-19734600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr19:19730000-19734800	Weak transcription	Lung	lung
16	chr19:19730000-19737000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr19:19730000-19737400	Weak transcription	HMEC	breast
18	chr19:19730000-19738000	Weak transcription	Adipose Nuclei	Adipose
19	chr19:19730000-19738000	Weak transcription	NHEK	skin
20	chr19:19730000-19738200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr19:19730200-19732200	Weak transcription	Fetal Brain Female	brain
22	chr19:19730200-19733400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr19:19730200-19733400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr19:19730200-19733600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr19:19730200-19734200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr19:19730200-19734400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr19:19730200-19734400	Weak transcription	Fetal Intestine Large	intestine
28	chr19:19730200-19734600	Weak transcription	Spleen	Spleen
29	chr19:19730200-19734800	Weak transcription	Fetal Intestine Small	intestine
30	chr19:19730200-19734800	Weak transcription	Ovary	ovary
31	chr19:19730200-19734800	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr19:19730200-19737000	Weak transcription	Primary hematopoietic stem cells	blood
33	chr19:19730200-19737000	Weak transcription	GM12878-XiMat	blood
34	chr19:19730200-19737200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr19:19730200-19737400	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr19:19730200-19738000	Weak transcription	Duodenum Mucosa	Duodenum
37	chr19:19730200-19738200	Weak transcription	Brain Anterior Caudate	brain
38	chr19:19730200-19738200	Weak transcription	Brain Hippocampus Middle	brain
39	chr19:19730200-19740200	Weak transcription	Dnd41	blood
40	chr19:19730400-19732000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr19:19730400-19732200	Weak transcription	Primary T cells from cord blood	blood
42	chr19:19730400-19732200	Weak transcription	Brain Germinal Matrix	brain
43	chr19:19730400-19733200	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr19:19730400-19733200	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr19:19730400-19733200	Weak transcription	Thymus	Thymus
46	chr19:19730400-19733400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr19:19730400-19734200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr19:19730400-19734200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr19:19730400-19734400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr19:19730400-19734400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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