Variant report

Variant	rs8103049
Chromosome Location	chr19:42939285-42939286
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:42579722..42581439-chr19:42937006..42939501,2	K562	blood:

Variant related genes	Relation type
ENSG00000105732	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs16975752	1.00[AFR][1000 genomes]
rs16975764	1.00[AFR][1000 genomes]
rs41399845	0.84[AFR][1000 genomes]
rs41454446	0.84[AFR][1000 genomes]
rs8110553	0.84[AFR][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	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
2	esv2422471	chr19:42733141-43669485	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42928800-42944800	Weak transcription	Esophagus	oesophagus
2	chr19:42929600-42945200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr19:42936200-42940600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr19:42936600-42939800	Enhancers	Left Ventricle	heart
5	chr19:42936600-42943200	Enhancers	HepG2	liver
6	chr19:42937800-42945000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr19:42938000-42939400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr19:42938000-42939400	Weak transcription	NHDF-Ad	bronchial
9	chr19:42938000-42940000	Weak transcription	A549	lung
10	chr19:42938000-42940200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr19:42938000-42940200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr19:42938000-42940200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr19:42938000-42940200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr19:42938000-42941600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr19:42938000-42942600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr19:42938000-42942800	Weak transcription	Liver	Liver
17	chr19:42938000-42942800	Weak transcription	K562	blood
18	chr19:42938000-42944400	Weak transcription	Brain Substantia Nigra	brain
19	chr19:42938000-42944600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr19:42938000-42944600	Weak transcription	Fetal Intestine Small	intestine
21	chr19:42938000-42944800	Weak transcription	Brain Hippocampus Middle	brain
22	chr19:42938000-42944800	Weak transcription	Fetal Intestine Large	intestine
23	chr19:42938000-42944800	Weak transcription	Fetal Lung	lung
24	chr19:42938000-42944800	Weak transcription	Pancreas	Pancrea
25	chr19:42938000-42944800	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr19:42938000-42945200	Weak transcription	Fetal Stomach	stomach
27	chr19:42938000-42946200	Enhancers	Adipose Nuclei	Adipose
28	chr19:42938000-42946800	Weak transcription	Right Ventricle	heart
29	chr19:42938000-42950200	Weak transcription	Gastric	stomach
30	chr19:42938000-42954200	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr19:42938200-42939600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr19:42938200-42942800	Weak transcription	Stomach Mucosa	stomach
33	chr19:42938200-42944600	Weak transcription	Fetal Muscle Leg	muscle
34	chr19:42938400-42939400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr19:42938400-42939400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr19:42938400-42942600	Weak transcription	Brain Anterior Caudate	brain
37	chr19:42938800-42941800	Weak transcription	Lung	lung
38	chr19:42939000-42939600	Weak transcription	Right Atrium	heart

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