Variant report

Variant	rs7247672
Chromosome Location	chr19:37743928-37743929
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10413389	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10418461	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10418729	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12986220	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1529957	0.97[EUR][1000 genomes]
rs35398388	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6508710	0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7246657	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7259618	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8110011	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3507199	chr19:37284708-37805639	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	esv3507200	chr19:37284708-37805639	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv3497360	chr19:37290273-37745365	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	esv3497361	chr19:37290273-37745365	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv458568	chr19:37325826-37747108	Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv579461	chr19:37325826-37747108	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv911652	chr19:37437106-37774299	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv911654	chr19:37487632-37758082	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv911655	chr19:37646745-37758082	ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	nsv9717	chr19:37721760-37796698	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv960834	chr19:37742831-37749967	ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37710400-37744200	ZNF genes & repeats	Liver	Liver
2	chr19:37741200-37744000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
3	chr19:37741200-37745600	ZNF genes & repeats	Adipose Nuclei	Adipose
4	chr19:37741600-37749200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
5	chr19:37741800-37744000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr19:37742000-37744000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
7	chr19:37742000-37744000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
8	chr19:37742200-37744000	ZNF genes & repeats	Placenta	Placenta
9	chr19:37742200-37744200	ZNF genes & repeats	Lung	lung
10	chr19:37743600-37744200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr19:37743600-37745400	Weak transcription	Right Ventricle	heart
12	chr19:37743600-37746800	Weak transcription	Osteobl	bone
13	chr19:37743600-37747200	Weak transcription	Fetal Stomach	stomach
14	chr19:37743600-37749600	Weak transcription	Psoas Muscle	Psoas
15	chr19:37743600-37751200	Weak transcription	Left Ventricle	heart
16	chr19:37743600-37751400	Weak transcription	NHDF-Ad	bronchial
17	chr19:37743600-37752800	Weak transcription	Fetal Heart	heart
18	chr19:37743800-37744000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr19:37743800-37744000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr19:37743800-37744000	Enhancers	Brain Hippocampus Middle	brain
21	chr19:37743800-37744000	Enhancers	Fetal Muscle Trunk	muscle
22	chr19:37743800-37744200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr19:37743800-37744800	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr19:37743800-37744800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr19:37743800-37746400	Weak transcription	Brain Germinal Matrix	brain
26	chr19:37743800-37746800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr19:37743800-37746800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr19:37743800-37746800	Weak transcription	Brain Cingulate Gyrus	brain
29	chr19:37743800-37746800	Weak transcription	Fetal Muscle Leg	muscle
30	chr19:37743800-37746800	Weak transcription	Stomach Smooth Muscle	stomach
31	chr19:37743800-37747000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr19:37743800-37747000	Weak transcription	Brain Substantia Nigra	brain
33	chr19:37743800-37747000	Weak transcription	Fetal Brain Female	brain
34	chr19:37743800-37747200	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr19:37743800-37747400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr19:37743800-37747400	Weak transcription	Brain Angular Gyrus	brain
37	chr19:37743800-37748000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr19:37743800-37748000	Weak transcription	Fetal Lung	lung
39	chr19:37743800-37749800	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr19:37743800-37751400	Weak transcription	Fetal Brain Male	brain
41	chr19:37743800-37752200	Weak transcription	Fetal Kidney	kidney
42	chr19:37743800-37758800	Weak transcription	Brain Anterior Caudate	brain

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