Variant report

Variant	rs73550627
Chromosome Location	chr19:42419637-42419638
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:42389117..42391614-chr19:42418078..42420063,2	K562	blood:
2	chr19:42418275..42422419-chr19:42423246..42425922,5	MCF-7	breast:
3	chr19:42416471..42421814-chr19:42422657..42426458,9	K562	blood:
4	chr19:42386921..42388449-chr19:42419179..42422138,2	MCF-7	breast:
5	chr19:42373255..42375761-chr19:42417935..42419997,2	K562	blood:
6	chr19:42410163..42415992-chr19:42417643..42422291,8	K562	blood:
7	chr19:42389117..42392218-chr19:42417443..42420229,3	K562	blood:

Variant related genes	Relation type
ENSG00000268041	Chromatin interaction
ENSG00000076928	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11878536	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11878555	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11881986	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs60744864	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs60909166	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61422512	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61509766	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73550630	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73550632	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73550637	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73550639	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73550642	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73550651	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73550655	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73550656	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73935809	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[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	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv911777	chr19:42357455-42521108	Bivalent/Poised TSS Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	esv1805469	chr19:42367635-42798851	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
5	nsv911780	chr19:42398450-42521108	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv911781	chr19:42398450-42542999	Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42389200-42429200	Weak transcription	Right Atrium	heart
2	chr19:42415400-42419800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr19:42416400-42421000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
4	chr19:42416600-42419800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
5	chr19:42417800-42420600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
6	chr19:42418400-42420200	Enhancers	Dnd41	blood
7	chr19:42419200-42420000	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
8	chr19:42419400-42419800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
9	chr19:42419400-42419800	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
10	chr19:42419400-42419800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
11	chr19:42419400-42419800	Flanking Bivalent TSS/Enh	Primary T helper naive cells from peripheral blood	blood
12	chr19:42419400-42419800	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
13	chr19:42419400-42419800	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr19:42419400-42419800	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
15	chr19:42419400-42419800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr19:42419400-42419800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr19:42419400-42419800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr19:42419400-42419800	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
19	chr19:42419400-42419800	Bivalent Enhancer	Adipose Nuclei	Adipose
20	chr19:42419400-42419800	Bivalent Enhancer	Brain Angular Gyrus	brain
21	chr19:42419400-42419800	Bivalent Enhancer	Brain Cingulate Gyrus	brain
22	chr19:42419400-42419800	Bivalent Enhancer	Colon Smooth Muscle	Colon
23	chr19:42419400-42419800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
24	chr19:42419400-42419800	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
25	chr19:42419400-42419800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
26	chr19:42419400-42419800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
27	chr19:42419400-42419800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
28	chr19:42419400-42419800	Flanking Bivalent TSS/Enh	Thymus	Thymus
29	chr19:42419400-42419800	Flanking Bivalent TSS/Enh	A549	lung
30	chr19:42419400-42419800	Bivalent Enhancer	NHDF-Ad	bronchial
31	chr19:42419400-42419800	Bivalent/Poised TSS	NHEK	skin
32	chr19:42419400-42420000	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
33	chr19:42419400-42420000	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
34	chr19:42419400-42420000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
35	chr19:42419400-42420000	Bivalent Enhancer	Fetal Intestine Large	intestine
36	chr19:42419400-42420000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
37	chr19:42419400-42420200	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
38	chr19:42419400-42420400	Enhancers	Gastric	stomach
39	chr19:42419400-42420600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
40	chr19:42419400-42420600	Bivalent Enhancer	Fetal Thymus	thymus
41	chr19:42419400-42420600	Bivalent Enhancer	Spleen	Spleen
42	chr19:42419600-42419800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr19:42419600-42419800	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr19:42419600-42419800	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr19:42419600-42419800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr19:42419600-42419800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr19:42419600-42419800	Bivalent Enhancer	Brain Anterior Caudate	brain
48	chr19:42419600-42419800	Bivalent Enhancer	Brain Hippocampus Middle	brain
49	chr19:42419600-42419800	Bivalent Enhancer	Duodenum Mucosa	Duodenum
50	chr19:42419600-42419800	Bivalent Enhancer	Ovary	ovary

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