Variant report

Variant	rs56180821
Chromosome Location	chr3:105230621-105230622
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11717732	0.82[AMR][1000 genomes]
rs12632847	0.85[ASN][1000 genomes]
rs16851258	0.95[ASN][1000 genomes]
rs16851303	0.82[AMR][1000 genomes]
rs3772559	0.95[ASN][1000 genomes]
rs58582466	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73189029	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73192710	1.00[AFR][1000 genomes]
rs7624777	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525071	chr3:105004853-105409321	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv829650	chr3:105070893-105255036	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv534224	chr3:105141696-105404293	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv829651	chr3:105203424-105402136	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv460811	chr3:105212993-105316769	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
6	nsv591240	chr3:105212993-105316769	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:105210200-105243200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:105221400-105300400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:105221600-105231800	Weak transcription	NHLF	lung
4	chr3:105222200-105260600	Weak transcription	Fetal Kidney	kidney
5	chr3:105222800-105231800	Weak transcription	NH-A	brain
6	chr3:105222800-105246000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr3:105223800-105274800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr3:105224400-105239600	Weak transcription	GM12878-XiMat	blood
9	chr3:105225800-105236000	Weak transcription	Liver	Liver
10	chr3:105227000-105231600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr3:105227000-105232000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr3:105227400-105233800	Weak transcription	Brain Substantia Nigra	brain
13	chr3:105228800-105230800	Enhancers	Brain Angular Gyrus	brain
14	chr3:105228800-105233200	Enhancers	Osteobl	bone
15	chr3:105229400-105233200	Enhancers	NHDF-Ad	bronchial
16	chr3:105229600-105231800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr3:105229600-105232800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr3:105229600-105244600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr3:105229600-105260400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr3:105229800-105233000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr3:105229800-105233200	Enhancers	Muscle Satellite Cultured Cells	--
22	chr3:105229800-105235000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr3:105230000-105231400	Enhancers	Brain Anterior Caudate	brain
24	chr3:105230000-105233400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr3:105230000-105234200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr3:105230200-105232600	Enhancers	Brain Cingulate Gyrus	brain
27	chr3:105230200-105262600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr3:105230400-105231000	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr3:105230400-105232400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr3:105230400-105234200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr3:105230600-105231200	Enhancers	Brain Hippocampus Middle	brain
32	chr3:105230600-105231600	Weak transcription	HSMM	muscle
33	chr3:105230600-105231800	Weak transcription	A549	lung
34	chr3:105230600-105232000	Weak transcription	HSMMtube	muscle
35	chr3:105230600-105232400	Enhancers	Fetal Heart	heart
36	chr3:105230600-105233800	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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