Variant report

Variant	rs7254839
Chromosome Location	chr19:42942047-42942048
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10405891	1.00[EUR][1000 genomes]
rs10411253	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10414969	1.00[EUR][1000 genomes]
rs10416062	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10417560	1.00[EUR][1000 genomes]
rs10422000	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10423047	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10423136	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10425139	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13345659	1.00[EUR][1000 genomes]
rs16975743	1.00[EUR][1000 genomes]
rs16975750	1.00[EUR][1000 genomes]
rs16975751	1.00[YRI][hapmap]
rs28448880	1.00[EUR][1000 genomes]
rs28514561	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs35623577	1.00[EUR][1000 genomes]
rs7245385	0.88[YRI][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7248439	1.00[EUR][1000 genomes]
rs7251638	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7252470	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7254369	0.90[YRI][hapmap];0.83[AFR][1000 genomes]
rs7255015	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73556352	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73556356	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8100511	0.83[YRI][hapmap]
rs8102976	0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8103051	0.83[YRI][hapmap]
rs8103108	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	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:31 , 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	chr19:42936600-42943200	Enhancers	HepG2	liver
4	chr19:42937800-42945000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr19:42938000-42942600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr19:42938000-42942800	Weak transcription	Liver	Liver
7	chr19:42938000-42942800	Weak transcription	K562	blood
8	chr19:42938000-42944400	Weak transcription	Brain Substantia Nigra	brain
9	chr19:42938000-42944600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr19:42938000-42944600	Weak transcription	Fetal Intestine Small	intestine
11	chr19:42938000-42944800	Weak transcription	Brain Hippocampus Middle	brain
12	chr19:42938000-42944800	Weak transcription	Fetal Intestine Large	intestine
13	chr19:42938000-42944800	Weak transcription	Fetal Lung	lung
14	chr19:42938000-42944800	Weak transcription	Pancreas	Pancrea
15	chr19:42938000-42944800	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr19:42938000-42945200	Weak transcription	Fetal Stomach	stomach
17	chr19:42938000-42946200	Enhancers	Adipose Nuclei	Adipose
18	chr19:42938000-42946800	Weak transcription	Right Ventricle	heart
19	chr19:42938000-42950200	Weak transcription	Gastric	stomach
20	chr19:42938000-42954200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr19:42938200-42942800	Weak transcription	Stomach Mucosa	stomach
22	chr19:42938200-42944600	Weak transcription	Fetal Muscle Leg	muscle
23	chr19:42938400-42942600	Weak transcription	Brain Anterior Caudate	brain
24	chr19:42939400-42942200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr19:42939800-42944800	Weak transcription	Left Ventricle	heart
26	chr19:42940400-42942800	Weak transcription	Right Atrium	heart
27	chr19:42940400-42942800	Weak transcription	A549	lung
28	chr19:42940600-42942800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr19:42940600-42942800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr19:42940600-42944400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr19:42941000-42944400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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