Variant report

Variant	rs73554158
Chromosome Location	chr19:44510841-44510842
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:44506934..44508722-chr19:44508906..44511281,4	K562	blood:
2	chr19:44438985..44440520-chr19:44510451..44513064,2	MCF-7	breast:
3	chr19:44506929..44508722-chr19:44508906..44512991,6	K562	blood:
4	chr19:44510545..44512229-chr19:44575902..44577637,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000124459	Chromatin interaction
ENSG00000159882	Chromatin interaction
ENSG00000186026	Chromatin interaction
ENSG00000266921	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11083731	1.00[EUR][1000 genomes]
rs11880006	1.00[EUR][1000 genomes]
rs11880958	1.00[EUR][1000 genomes]
rs55784929	1.00[EUR][1000 genomes]
rs56376181	1.00[EUR][1000 genomes]
rs56985355	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59735455	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60620675	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60992756	0.87[AMR][1000 genomes]
rs61182068	1.00[EUR][1000 genomes]
rs7260493	1.00[EUR][1000 genomes]
rs73554150	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73554151	1.00[EUR][1000 genomes]
rs73554153	1.00[EUR][1000 genomes]
rs73554156	1.00[EUR][1000 genomes]
rs73554172	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73554176	1.00[EUR][1000 genomes]
rs73554181	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73554183	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73554199	1.00[EUR][1000 genomes]
rs73556203	1.00[EUR][1000 genomes]
rs73558261	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44508000-44511000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr19:44508000-44511600	Weak transcription	Pancreas	Pancrea
3	chr19:44508200-44511000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr19:44508200-44511000	Weak transcription	Aorta	Aorta
5	chr19:44508200-44511000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr19:44508200-44511000	Weak transcription	Esophagus	oesophagus
7	chr19:44508200-44511000	Weak transcription	Gastric	stomach
8	chr19:44508200-44511000	Weak transcription	Left Ventricle	heart
9	chr19:44508200-44511000	Weak transcription	Ovary	ovary
10	chr19:44508200-44511200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr19:44508200-44511200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr19:44508200-44511400	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr19:44508200-44511400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr19:44508200-44511600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr19:44508200-44511600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr19:44508200-44511600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr19:44508200-44511800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr19:44508200-44511800	Weak transcription	Stomach Mucosa	stomach
19	chr19:44508200-44512000	Weak transcription	HSMM	muscle
20	chr19:44508200-44512800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr19:44508400-44511000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr19:44508400-44511000	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr19:44508400-44511000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr19:44508400-44511000	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr19:44508400-44511000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr19:44508400-44511000	Weak transcription	Brain Angular Gyrus	brain
27	chr19:44508400-44511000	Weak transcription	Brain Germinal Matrix	brain
28	chr19:44508400-44511000	Weak transcription	Fetal Brain Female	brain
29	chr19:44508400-44511000	Weak transcription	Fetal Kidney	kidney
30	chr19:44508400-44511000	Weak transcription	Placenta	Placenta
31	chr19:44508400-44511000	Weak transcription	Small Intestine	intestine
32	chr19:44508400-44511000	Weak transcription	Stomach Smooth Muscle	stomach
33	chr19:44508400-44511000	Weak transcription	Thymus	Thymus
34	chr19:44508400-44511000	Weak transcription	Spleen	Spleen
35	chr19:44508400-44511200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr19:44508400-44511200	Weak transcription	Brain Anterior Caudate	brain
37	chr19:44508400-44511200	Weak transcription	Colonic Mucosa	Colon
38	chr19:44508400-44511200	Weak transcription	HUVEC	blood vessel
39	chr19:44508400-44511400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr19:44508400-44511400	Weak transcription	Brain Cingulate Gyrus	brain
41	chr19:44508400-44511400	Weak transcription	Fetal Brain Male	brain
42	chr19:44508400-44511400	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr19:44508400-44511400	Weak transcription	Fetal Thymus	thymus
44	chr19:44508400-44511400	Weak transcription	Right Ventricle	heart
45	chr19:44508400-44511400	Weak transcription	NH-A	brain
46	chr19:44508400-44511600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr19:44508400-44511600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr19:44508400-44511600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr19:44508400-44511600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr19:44508400-44511600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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