Variant report

Variant	rs12986220
Chromosome Location	chr19:37752655-37752656
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10413389	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10418461	0.88[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs10418729	0.88[AFR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1529957	0.86[EUR][1000 genomes]
rs35398388	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6508710	0.87[EUR][1000 genomes]
rs7246657	0.87[EUR][1000 genomes]
rs7247672	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7259618	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8110011	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	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
5	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
6	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
7	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
8	esv3520361	chr19:37745067-37811325	Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	esv3520362	chr19:37745067-37811325	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	esv1832219	chr19:37747108-37793960	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv978811	chr19:37749967-37820517	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37743600-37752800	Weak transcription	Fetal Heart	heart
2	chr19:37743800-37758800	Weak transcription	Brain Anterior Caudate	brain
3	chr19:37745600-37758800	Weak transcription	Ovary	ovary
4	chr19:37747800-37754800	Weak transcription	Brain Angular Gyrus	brain
5	chr19:37748400-37753000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr19:37748400-37755600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr19:37748400-37759400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr19:37749000-37753200	Weak transcription	Brain Hippocampus Middle	brain
9	chr19:37749800-37753600	Weak transcription	NH-A	brain
10	chr19:37751600-37753000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr19:37751600-37753200	Weak transcription	Esophagus	oesophagus
12	chr19:37751600-37754600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr19:37751600-37756600	Weak transcription	Fetal Brain Male	brain
14	chr19:37751600-37757800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr19:37751600-37757800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr19:37751600-37757800	Weak transcription	Fetal Stomach	stomach
17	chr19:37751600-37758800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr19:37751600-37759200	Weak transcription	Fetal Muscle Trunk	muscle
19	chr19:37751600-37760400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr19:37751800-37758800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr19:37752000-37753000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr19:37752000-37755000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr19:37752000-37755800	Weak transcription	Osteobl	bone
24	chr19:37752000-37758600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr19:37752200-37753000	Weak transcription	Fetal Muscle Leg	muscle
26	chr19:37752200-37754200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr19:37752200-37758600	Weak transcription	Fetal Lung	lung
28	chr19:37752400-37753000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr19:37752400-37753400	Weak transcription	Fetal Brain Female	brain
30	chr19:37752400-37757800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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