Variant report

Variant	rs73621065
Chromosome Location	chr19:56768308-56768309
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:56763438..56764980-chr19:56767122..56769734,2	K562	blood:

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

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

rs_ID	r²[population]
rs10401852	1.00[EUR][1000 genomes]
rs12104157	1.00[EUR][1000 genomes]
rs12104316	1.00[EUR][1000 genomes]
rs28715006	1.00[EUR][1000 genomes]
rs58167140	1.00[EUR][1000 genomes]
rs58477337	1.00[EUR][1000 genomes]
rs60994843	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064371	chr19:56418215-56842450	ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
2	nsv1057316	chr19:56418215-56849458	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
3	nsv912516	chr19:56601298-56981382	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	93 gene(s)	inside rSNPs	diseases
4	nsv1058152	chr19:56703368-56805035	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv544093	chr19:56703368-56805035	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv526325	chr19:56741186-56852035	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	nsv949121	chr19:56754719-57591038	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56729200-56803000	Weak transcription	Pancreas	Pancrea
2	chr19:56735400-56774400	Weak transcription	Primary T cells from cord blood	blood
3	chr19:56747600-56781800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr19:56751000-56776400	Weak transcription	Lung	lung
5	chr19:56753000-56809000	Weak transcription	Gastric	stomach
6	chr19:56764200-56773800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr19:56764200-56788400	Weak transcription	A549	lung
8	chr19:56764400-56774400	Weak transcription	Left Ventricle	heart
9	chr19:56764400-56788400	Weak transcription	Fetal Muscle Leg	muscle
10	chr19:56764400-56788600	Weak transcription	Duodenum Mucosa	Duodenum
11	chr19:56764400-56798600	Weak transcription	Placenta	Placenta
12	chr19:56764600-56769600	Weak transcription	Spleen	Spleen
13	chr19:56764600-56769800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr19:56764600-56788200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr19:56764600-56799400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr19:56764600-56804000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr19:56764800-56774600	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr19:56765000-56788400	Weak transcription	Brain Anterior Caudate	brain
19	chr19:56765200-56769400	Weak transcription	K562	blood
20	chr19:56766600-56804200	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr19:56767400-56782400	Weak transcription	Fetal Kidney	kidney
22	chr19:56768000-56769600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr19:56768000-56772200	Weak transcription	Thymus	Thymus
24	chr19:56768200-56769800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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