Variant report

Variant	rs57419676
Chromosome Location	chr19:18487479-18487480
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:18338048..18340361-chr19:18486571..18489322,2	K562	blood:
2	chr19:18390974..18393997-chr19:18486473..18489182,3	MCF-7	breast:
3	chr19:18449115..18453939-chr19:18483257..18487784,7	K562	blood:
4	chr19:18388472..18395098-chr19:18481027..18487774,21	K562	blood:
5	chr19:18474428..18476480-chr19:18485604..18487652,2	MCF-7	breast:
6	chr19:18385071..18386645-chr19:18487077..18488757,2	K562	blood:

Variant related genes	Relation type
ENSG00000130518	Chromatin interaction
ENSG00000267959	Chromatin interaction
ENSG00000130517	Chromatin interaction
ENSG00000130522	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1059022	0.81[EUR][1000 genomes]
rs12979706	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34937778	0.83[EUR][1000 genomes]
rs62122433	0.82[EUR][1000 genomes]
rs6413435	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7253758	0.92[EUR][1000 genomes]
rs8101249	0.82[EUR][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	nsv532614	chr19:18033043-18573963	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
2	nsv916325	chr19:18244780-18534927	Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
3	esv3323899	chr19:18343484-18620429	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	162 gene(s)	inside rSNPs	diseases
4	nsv911274	chr19:18440942-18691942	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv1057795	chr19:18453362-18883844	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription 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 miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv543925	chr19:18453362-18883844	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
7	nsv428018	chr19:18454891-18663981	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
8	nsv911275	chr19:18484922-18586759	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18482400-18488800	Enhancers	Fetal Intestine Large	intestine
2	chr19:18482800-18488600	Enhancers	Fetal Intestine Small	intestine
3	chr19:18483600-18491000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr19:18485200-18488800	Weak transcription	Gastric	stomach
5	chr19:18485200-18490800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr19:18485200-18491200	Weak transcription	Psoas Muscle	Psoas
7	chr19:18485400-18489200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr19:18485400-18489400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr19:18485400-18490200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr19:18485600-18490800	Weak transcription	Right Atrium	heart
11	chr19:18485800-18487800	Weak transcription	HSMMtube	muscle
12	chr19:18485800-18489000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr19:18485800-18489000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr19:18485800-18489000	Weak transcription	HMEC	breast
15	chr19:18485800-18489000	Weak transcription	NHEK	skin
16	chr19:18485800-18489200	Enhancers	GM12878-XiMat	blood
17	chr19:18485800-18489200	Weak transcription	Osteobl	bone
18	chr19:18485800-18489600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr19:18485800-18489600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr19:18485800-18489800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr19:18485800-18489800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr19:18485800-18490800	Weak transcription	Adipose Nuclei	Adipose
23	chr19:18485800-18490800	Weak transcription	NH-A	brain
24	chr19:18485800-18490800	Weak transcription	NHDF-Ad	bronchial
25	chr19:18485800-18491000	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr19:18485800-18491000	Enhancers	HepG2	liver
27	chr19:18485800-18491200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr19:18485800-18491200	Weak transcription	Fetal Heart	heart
29	chr19:18485800-18496600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr19:18485800-18499000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr19:18486000-18487800	Weak transcription	Small Intestine	intestine
32	chr19:18486000-18489000	Weak transcription	HUVEC	blood vessel
33	chr19:18486000-18489200	Weak transcription	HSMM	muscle
34	chr19:18486000-18490800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr19:18486000-18490800	Weak transcription	Colon Smooth Muscle	Colon
36	chr19:18486000-18490800	Weak transcription	Fetal Muscle Leg	muscle
37	chr19:18486000-18490800	Weak transcription	Fetal Thymus	thymus
38	chr19:18486000-18490800	Weak transcription	Stomach Mucosa	stomach
39	chr19:18486000-18490800	Enhancers	Hela-S3	cervix
40	chr19:18486000-18491000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr19:18486000-18491000	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr19:18486000-18491000	Weak transcription	Brain Substantia Nigra	brain
43	chr19:18486000-18491200	Weak transcription	Left Ventricle	heart
44	chr19:18486200-18489000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr19:18486200-18490800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr19:18486200-18490800	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr19:18486200-18491000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr19:18486200-18491200	Weak transcription	Lung	lung
49	chr19:18486400-18487600	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr19:18486400-18487800	Weak transcription	A549	lung

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