Variant report

Variant	rs59191415
Chromosome Location	chr19:52087444-52087445
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:52086597..52088901-chr19:52091114..52092940,2	K562	blood:
2	chr19:52083325..52084883-chr19:52087128..52088776,2	K562	blood:
3	chr19:52049987..52053285-chr19:52087444..52089013,3	K562	blood:
4	chr19:52078911..52080739-chr19:52086596..52089437,3	K562	blood:
5	chr19:52074397..52078234-chr19:52085702..52087980,3	K562	blood:

Variant related genes	Relation type
ENSG00000105497	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1063973	0.87[ASN][1000 genomes]
rs12973066	1.00[ASN][1000 genomes]
rs12973225	1.00[ASN][1000 genomes]
rs17660487	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35589997	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35936222	1.00[ASN][1000 genomes]
rs3752	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45541134	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57351606	0.87[ASN][1000 genomes]
rs58301181	0.87[ASN][1000 genomes]
rs67770878	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066308	chr19:51680133-52103974	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv544049	chr19:51680133-52103974	Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	nsv544051	chr19:51944903-52147459	Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	esv2758504	chr19:51991896-52266700	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	542 gene(s)	inside rSNPs	diseases
5	esv2758767	chr19:51991896-52604625	Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	578 gene(s)	inside rSNPs	diseases
6	nsv469584	chr19:52001381-52151821	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv482654	chr19:52001381-52151821	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
8	nsv579966	chr19:52075622-52131119	Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52075400-52090200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:52075600-52089200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr19:52075800-52090000	Weak transcription	Stomach Mucosa	stomach
4	chr19:52075800-52096800	Weak transcription	HepG2	liver
5	chr19:52076200-52088200	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr19:52076400-52088800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr19:52076800-52089400	Weak transcription	HMEC	breast
8	chr19:52077000-52088800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr19:52077000-52089600	Weak transcription	Small Intestine	intestine
10	chr19:52077000-52097000	Weak transcription	Hela-S3	cervix
11	chr19:52077200-52089400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr19:52078200-52089600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr19:52078600-52088200	Weak transcription	Fetal Intestine Small	intestine
14	chr19:52079000-52089200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr19:52079200-52087600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr19:52081200-52088200	Strong transcription	Primary B cells from peripheral blood	blood
17	chr19:52081400-52088800	Strong transcription	Muscle Satellite Cultured Cells	--
18	chr19:52081400-52089000	Strong transcription	Fetal Muscle Trunk	muscle
19	chr19:52081400-52091000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr19:52081600-52088800	Strong transcription	Ovary	ovary
21	chr19:52081600-52089400	Strong transcription	Primary hematopoietic stem cells	blood
22	chr19:52081600-52089400	Strong transcription	HSMM	muscle
23	chr19:52081600-52089600	Strong transcription	Duodenum Mucosa	Duodenum
24	chr19:52081600-52089600	Strong transcription	Skeletal Muscle Female	skeletal muscle
25	chr19:52081600-52092000	ZNF genes & repeats	Liver	Liver
26	chr19:52081800-52088000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr19:52082200-52090000	Strong transcription	Placenta	Placenta
28	chr19:52082400-52089200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr19:52082600-52088000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr19:52082800-52089600	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr19:52083400-52087600	Strong transcription	Primary B cells from cord blood	blood
32	chr19:52083400-52088600	Strong transcription	HUVEC	blood vessel
33	chr19:52083600-52087800	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr19:52083600-52088400	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr19:52083600-52089200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr19:52083600-52089600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr19:52083600-52090600	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr19:52083800-52087600	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr19:52083800-52088600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr19:52083800-52088800	Strong transcription	Fetal Muscle Leg	muscle
41	chr19:52083800-52089200	Strong transcription	Fetal Brain Female	brain
42	chr19:52083800-52090000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr19:52083800-52091000	Strong transcription	Brain Hippocampus Middle	brain
44	chr19:52084000-52088000	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr19:52084000-52088400	Strong transcription	Adipose Nuclei	Adipose
46	chr19:52084000-52088600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr19:52084000-52088800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr19:52084000-52088800	Strong transcription	Fetal Lung	lung
49	chr19:52084000-52089400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr19:52084000-52089400	Strong transcription	Rectal Mucosa Donor 31	rectum

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