Variant report

Variant	rs73556206
Chromosome Location	chr19:44531949-44531950
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs56985355	0.94[AFR][1000 genomes]
rs60620675	0.94[AFR][1000 genomes]
rs60992756	0.94[AFR][1000 genomes]
rs61729338	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73554172	0.94[AFR][1000 genomes]
rs73554181	0.94[AFR][1000 genomes]
rs73554183	0.94[AFR][1000 genomes]
rs73554199	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73556217	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73556220	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73556278	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73558229	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469650	chr19:44405994-44555426	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv833840	chr19:44520620-44715760	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44530200-44535400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:44530400-44532200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr19:44530400-44536200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr19:44530600-44532000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr19:44530600-44532000	Strong transcription	Fetal Intestine Large	intestine
6	chr19:44530600-44532000	Weak transcription	Pancreas	Pancrea
7	chr19:44530600-44532000	Weak transcription	NH-A	brain
8	chr19:44530600-44532200	Weak transcription	NHDF-Ad	bronchial
9	chr19:44530600-44534400	Weak transcription	Stomach Mucosa	stomach
10	chr19:44530600-44534600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr19:44530600-44534800	Weak transcription	HUVEC	blood vessel
12	chr19:44530600-44535000	Weak transcription	HMEC	breast
13	chr19:44530800-44532200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
14	chr19:44530800-44532200	Strong transcription	Fetal Muscle Leg	muscle
15	chr19:44530800-44533000	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
16	chr19:44530800-44534200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr19:44530800-44534600	Strong transcription	Brain Inferior Temporal Lobe	brain
18	chr19:44530800-44534600	Strong transcription	Fetal Muscle Trunk	muscle
19	chr19:44530800-44537000	ZNF genes & repeats	Fetal Kidney	kidney
20	chr19:44530800-44537000	ZNF genes & repeats	Fetal Lung	lung
21	chr19:44530800-44537200	ZNF genes & repeats	Ovary	ovary
22	chr19:44530800-44539200	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
23	chr19:44530800-44539600	ZNF genes & repeats	Fetal Brain Female	brain
24	chr19:44530800-44542600	ZNF genes & repeats	Liver	Liver
25	chr19:44531000-44532000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr19:44531000-44532200	Strong transcription	Brain Cingulate Gyrus	brain
27	chr19:44531000-44532400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr19:44531000-44532400	ZNF genes & repeats	Rectal Smooth Muscle	rectum
29	chr19:44531000-44532600	Strong transcription	Brain Anterior Caudate	brain
30	chr19:44531000-44532600	ZNF genes & repeats	Lung	lung
31	chr19:44531000-44532800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr19:44531000-44533200	Strong transcription	Fetal Stomach	stomach
33	chr19:44531000-44533400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr19:44531000-44533400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr19:44531000-44533600	ZNF genes & repeats	Spleen	Spleen
36	chr19:44531000-44533800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr19:44531000-44534000	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr19:44531000-44534000	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr19:44531000-44534200	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr19:44531000-44534600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr19:44531000-44534600	Strong transcription	Fetal Brain Male	brain
42	chr19:44531000-44534600	Strong transcription	HSMM	muscle
43	chr19:44531000-44534800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr19:44531000-44534800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr19:44531000-44535000	Strong transcription	Muscle Satellite Cultured Cells	--
46	chr19:44531000-44535000	Strong transcription	HSMMtube	muscle
47	chr19:44531000-44535000	Strong transcription	Osteobl	bone
48	chr19:44531000-44535800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr19:44531000-44536400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr19:44531000-44537000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived

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