Variant report

Variant	rs11816813
Chromosome Location	chr10:99347166-99347167
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:99345242..99348489-chr10:99349078..99351813,3	K562	blood:

Variant related genes	Relation type
ENSG00000203942	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12184354	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4570517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7070104	0.98[AFR][1000 genomes];0.89[EUR][1000 genomes];0.85[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	esv1817777	chr10:99196035-99558169	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer 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 target site	66 gene(s)	inside rSNPs	diseases
2	nsv1047359	chr10:99306501-99369013	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
3	nsv818782	chr10:99337572-99350128	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv971896	chr10:99338341-99349551	Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
5	nsv975816	chr10:99344579-99354694	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:99336000-99348800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr10:99344000-99349000	Weak transcription	Fetal Stomach	stomach
3	chr10:99344200-99348800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr10:99344800-99348800	Weak transcription	Fetal Intestine Small	intestine
5	chr10:99344800-99349000	Weak transcription	Brain Angular Gyrus	brain
6	chr10:99344800-99349600	Weak transcription	Fetal Intestine Large	intestine
7	chr10:99345000-99348600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr10:99345200-99348800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr10:99345400-99347200	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr10:99345400-99353400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr10:99345600-99348800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr10:99345600-99348800	Weak transcription	Brain Anterior Caudate	brain
13	chr10:99345600-99348800	Weak transcription	Fetal Muscle Leg	muscle
14	chr10:99345600-99349000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr10:99346200-99348600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr10:99346200-99351000	Enhancers	HepG2	liver
17	chr10:99346400-99352600	Weak transcription	Aorta	Aorta
18	chr10:99346600-99347200	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr10:99346600-99348600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr10:99346600-99348800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr10:99346600-99348800	Weak transcription	Fetal Heart	heart
22	chr10:99346600-99348800	Weak transcription	Left Ventricle	heart
23	chr10:99346600-99349800	Enhancers	Liver	Liver
24	chr10:99346800-99348000	Weak transcription	Brain Hippocampus Middle	brain
25	chr10:99347000-99347200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr10:99347000-99348400	Weak transcription	Brain Substantia Nigra	brain
27	chr10:99347000-99348800	Weak transcription	Pancreas	Pancrea
28	chr10:99347000-99350200	Weak transcription	Right Ventricle	heart
29	chr10:99347000-99353400	Weak transcription	Right Atrium	heart

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