Variant report

Variant	rs7249704
Chromosome Location	chr19:44939360-44939361
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11665852	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1369097	0.89[ASN][1000 genomes]
rs1560915	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2196188	0.91[ASN][1000 genomes]
rs2356889	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2571173	0.96[ASN][1000 genomes]
rs2722681	0.87[ASN][1000 genomes]
rs2722694	0.91[ASN][1000 genomes]
rs2722695	0.96[ASN][1000 genomes]
rs2734450	0.91[ASN][1000 genomes]
rs2734451	0.91[ASN][1000 genomes]
rs2734452	0.91[ASN][1000 genomes]
rs2734454	0.91[ASN][1000 genomes]
rs2734455	0.91[ASN][1000 genomes]
rs2734456	0.91[ASN][1000 genomes]
rs2734458	0.91[ASN][1000 genomes]
rs2734462	0.91[ASN][1000 genomes]
rs7249536	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs926052	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][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	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	esv2763206	chr19:44885379-44941728	ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv9734	chr19:44892761-44940023	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	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
7	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:69 , 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	chr19:44928200-44941000	ZNF genes & repeats	Liver	Liver
3	chr19:44928200-44941000	ZNF genes & repeats	Ovary	ovary
4	chr19:44928200-44943400	ZNF genes & repeats	Adipose Nuclei	Adipose
5	chr19:44928400-44951800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr19:44929200-44945400	ZNF genes & repeats	Brain Germinal Matrix	brain
7	chr19:44929400-44941000	ZNF genes & repeats	Fetal Brain Female	brain
8	chr19:44931800-44940200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr19:44931800-44941000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
10	chr19:44931800-44941600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr19:44932000-44939800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
12	chr19:44932000-44940000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr19:44932000-44941000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
14	chr19:44932000-44943400	ZNF genes & repeats	Fetal Lung	lung
15	chr19:44932000-44953200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
16	chr19:44932200-44940200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr19:44932200-44940400	ZNF genes & repeats	Brain Hippocampus Middle	brain
18	chr19:44932200-44940800	ZNF genes & repeats	Colon Smooth Muscle	Colon
19	chr19:44932200-44941000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr19:44932200-44941000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
21	chr19:44932200-44941000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr19:44932200-44941000	ZNF genes & repeats	Left Ventricle	heart
23	chr19:44932200-44943400	ZNF genes & repeats	A549	lung
24	chr19:44932200-44943600	ZNF genes & repeats	Stomach Smooth Muscle	stomach
25	chr19:44932400-44940200	ZNF genes & repeats	Primary B cells from cord blood	blood
26	chr19:44932400-44940800	ZNF genes & repeats	Fetal Muscle Trunk	muscle
27	chr19:44932400-44940800	ZNF genes & repeats	Fetal Muscle Leg	muscle
28	chr19:44932400-44941000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr19:44932400-44941000	ZNF genes & repeats	Aorta	Aorta
30	chr19:44932400-44941000	ZNF genes & repeats	Fetal Stomach	stomach
31	chr19:44932600-44941000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr19:44932600-44941000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr19:44932600-44941000	ZNF genes & repeats	Fetal Intestine Small	intestine
34	chr19:44932800-44940800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr19:44933800-44941200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr19:44934600-44950800	Weak transcription	Hela-S3	cervix
37	chr19:44935200-44941000	ZNF genes & repeats	Brain Anterior Caudate	brain
38	chr19:44935600-44940800	ZNF genes & repeats	Spleen	Spleen
39	chr19:44935800-44942200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
40	chr19:44936000-44951400	Weak transcription	Fetal Heart	heart
41	chr19:44936400-44952000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr19:44937200-44941000	ZNF genes & repeats	Primary T cells from cord blood	blood
43	chr19:44937400-44946400	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr19:44937400-44951800	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr19:44937600-44940400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr19:44937800-44940400	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr19:44937800-44942600	Weak transcription	HSMMtube	muscle
48	chr19:44938200-44940000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr19:44938200-44940400	Strong transcription	Fetal Intestine Large	intestine
50	chr19:44938400-44940000	Strong transcription	Osteobl	bone

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