Variant report

Variant	rs2571171
Chromosome Location	chr19:44942070-44942071
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44941423..44943869-chr19:44947152..44949431,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12460539	0.95[ASN][1000 genomes]
rs16979070	0.95[ASN][1000 genomes]
rs204543	0.97[ASN][1000 genomes]
rs204547	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2571167	0.86[AFR][1000 genomes]
rs57014690	0.95[ASN][1000 genomes]
rs59505617	0.89[ASN][1000 genomes]
rs7246659	0.91[ASN][1000 genomes]
rs8101705	0.95[ASN][1000 genomes]
rs8113370	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912112	chr19:44853707-45011727	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv912114	chr19:44858776-45002563	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv1061350	chr19:44869075-45035469	Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	esv2756827	chr19:44894102-44947444	Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv2758764	chr19:44894102-44947444	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44928000-44943600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
2	chr19:44928200-44943400	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr19:44928400-44951800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr19:44929200-44945400	ZNF genes & repeats	Brain Germinal Matrix	brain
5	chr19:44932000-44943400	ZNF genes & repeats	Fetal Lung	lung
6	chr19:44932000-44953200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
7	chr19:44932200-44943400	ZNF genes & repeats	A549	lung
8	chr19:44932200-44943600	ZNF genes & repeats	Stomach Smooth Muscle	stomach
9	chr19:44934600-44950800	Weak transcription	Hela-S3	cervix
10	chr19:44935800-44942200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
11	chr19:44936000-44951400	Weak transcription	Fetal Heart	heart
12	chr19:44936400-44952000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr19:44937400-44946400	Strong transcription	Skeletal Muscle Female	skeletal muscle
14	chr19:44937400-44951800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr19:44937800-44942600	Weak transcription	HSMMtube	muscle
16	chr19:44938400-44951800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr19:44938600-44946600	Weak transcription	HSMM	muscle
18	chr19:44938800-44942400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr19:44938800-44945800	Weak transcription	NHLF	lung
20	chr19:44938800-44946400	Weak transcription	Fetal Kidney	kidney
21	chr19:44938800-44951600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr19:44939000-44945400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr19:44939000-44946000	Weak transcription	NH-A	brain
24	chr19:44939000-44948400	Weak transcription	NHEK	skin
25	chr19:44940000-44948200	Weak transcription	Osteobl	bone
26	chr19:44940000-44950600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr19:44940200-44946200	Weak transcription	NHDF-Ad	bronchial
28	chr19:44940200-44951200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
29	chr19:44940600-44942600	Weak transcription	Brain Cingulate Gyrus	brain
30	chr19:44940600-44951800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr19:44940600-44951800	Weak transcription	Fetal Thymus	thymus
32	chr19:44940800-44944200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr19:44941000-44942400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr19:44941000-44942600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr19:44941000-44942600	Weak transcription	Brain Hippocampus Middle	brain
36	chr19:44941000-44942600	Weak transcription	Fetal Intestine Large	intestine
37	chr19:44941000-44942600	Weak transcription	Fetal Stomach	stomach
38	chr19:44941000-44942600	Weak transcription	Lung	lung
39	chr19:44941000-44942600	Weak transcription	Pancreas	Pancrea
40	chr19:44941000-44942800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr19:44941000-44943200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr19:44941000-44943800	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr19:44941000-44946000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr19:44941000-44946000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr19:44941600-44943000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr19:44941600-44943400	ZNF genes & repeats	Psoas Muscle	Psoas
47	chr19:44941600-44950400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr19:44941800-44942400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
49	chr19:44941800-44942600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr19:44941800-44943400	ZNF genes & repeats	Ovary	ovary

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