Variant report

Variant	rs58591332
Chromosome Location	chr19:44491418-44491419
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44490423..44495330-chr19:44505190..44508106,4	K562	blood:
2	chr19:44491075..44493860-chr19:44504109..44508403,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000266921	Chromatin interaction
ENSG00000159882	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11669568	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11670772	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11672879	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36044624	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs365745	0.88[EUR][1000 genomes]
rs367358	0.89[EUR][1000 genomes]
rs380242	0.89[EUR][1000 genomes]
rs392160	0.86[EUR][1000 genomes]
rs415913	0.85[EUR][1000 genomes]
rs425200	0.89[EUR][1000 genomes]
rs436788	0.89[EUR][1000 genomes]
rs437058	0.89[EUR][1000 genomes]
rs437067	0.89[EUR][1000 genomes]
rs441794	0.89[EUR][1000 genomes]
rs442679	0.89[EUR][1000 genomes]
rs445265	0.85[EUR][1000 genomes]
rs452238	0.90[EUR][1000 genomes]
rs454218	0.89[EUR][1000 genomes]
rs458647	0.89[EUR][1000 genomes]
rs460071	0.89[EUR][1000 genomes]
rs462417	0.89[EUR][1000 genomes]
rs55750317	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs612663	0.93[EUR][1000 genomes]
rs73035922	0.88[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	nsv912109	chr19:44459074-44493142	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44489000-44493600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr19:44489200-44491600	Weak transcription	Aorta	Aorta
3	chr19:44489200-44492400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr19:44489200-44492400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr19:44489200-44492600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr19:44489200-44492600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr19:44489200-44492600	Weak transcription	Fetal Muscle Leg	muscle
8	chr19:44489200-44492600	Weak transcription	Psoas Muscle	Psoas
9	chr19:44489200-44493000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr19:44489200-44493200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr19:44489200-44493200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr19:44489200-44493400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr19:44489200-44493400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr19:44489200-44493400	Weak transcription	Brain Angular Gyrus	brain
15	chr19:44489200-44493400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr19:44489200-44493600	Weak transcription	Colonic Mucosa	Colon
17	chr19:44489200-44494600	Weak transcription	Gastric	stomach
18	chr19:44489200-44494600	Weak transcription	NHLF	lung
19	chr19:44489200-44496000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr19:44489200-44496000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr19:44489200-44496000	Weak transcription	Small Intestine	intestine
22	chr19:44489200-44496600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr19:44489200-44500400	Weak transcription	HUVEC	blood vessel
24	chr19:44489200-44506200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr19:44489200-44506200	Weak transcription	Hela-S3	cervix
26	chr19:44489400-44491800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr19:44489400-44492000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr19:44489400-44492000	Weak transcription	Colon Smooth Muscle	Colon
29	chr19:44489400-44492200	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr19:44489400-44492400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr19:44489400-44492400	Weak transcription	Pancreas	Pancrea
32	chr19:44489400-44492400	Weak transcription	Rectal Smooth Muscle	rectum
33	chr19:44489400-44492400	Weak transcription	HSMM	muscle
34	chr19:44489400-44492600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr19:44489400-44492600	Weak transcription	Brain Germinal Matrix	brain
36	chr19:44489400-44492600	Weak transcription	Duodenum Mucosa	Duodenum
37	chr19:44489400-44492600	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr19:44489400-44492600	Weak transcription	Stomach Smooth Muscle	stomach
39	chr19:44489400-44492600	Weak transcription	Thymus	Thymus
40	chr19:44489400-44492800	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr19:44489400-44492800	Weak transcription	Brain Substantia Nigra	brain
42	chr19:44489400-44492800	Weak transcription	Fetal Brain Female	brain
43	chr19:44489400-44492800	Weak transcription	Fetal Thymus	thymus
44	chr19:44489400-44492800	Weak transcription	NHDF-Ad	bronchial
45	chr19:44489400-44493000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr19:44489400-44493200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr19:44489400-44493200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr19:44489400-44493200	Weak transcription	Placenta	Placenta
49	chr19:44489400-44493200	Weak transcription	NHEK	skin
50	chr19:44489400-44493400	Weak transcription	Brain Anterior Caudate	brain

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