Variant report

Variant	rs72979966
Chromosome Location	chr3:53840183-53840184
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs28744591	0.90[EUR][1000 genomes]
rs41276453	0.98[EUR][1000 genomes]
rs56382996	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58252138	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59314090	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60910387	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6766988	0.91[AMR][1000 genomes]
rs73843326	0.90[EUR][1000 genomes]
rs893364	0.91[AMR][1000 genomes]
rs9822784	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003621	chr3:53448934-54425322	Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1001128	chr3:53659570-53927842	Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1013783	chr3:53694418-53934781	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv1003204	chr3:53820070-53877149	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1002375	chr3:53822319-53872753	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv876803	chr3:53822893-53889849	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv518466	chr3:53832903-53882663	Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv521181	chr3:53833509-53881471	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv876804	chr3:53833509-53934171	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
10	esv3437902	chr3:53837712-53842010	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53811600-53843600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr3:53829200-53853000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:53830400-53851200	Weak transcription	Fetal Brain Male	brain
4	chr3:53830600-53840200	Weak transcription	Brain Angular Gyrus	brain
5	chr3:53830600-53840200	Weak transcription	Pancreas	Pancrea
6	chr3:53830800-53840200	Weak transcription	Brain Hippocampus Middle	brain
7	chr3:53833600-53840800	Weak transcription	Fetal Kidney	kidney
8	chr3:53837600-53841800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr3:53838000-53840400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr3:53838000-53841800	Enhancers	Fetal Thymus	thymus
11	chr3:53838200-53840200	Enhancers	HSMM	muscle
12	chr3:53838200-53841200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr3:53838200-53841200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr3:53838200-53841200	Enhancers	NH-A	brain
15	chr3:53838200-53841400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr3:53838200-53841600	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr3:53838200-53841600	Enhancers	Right Ventricle	heart
18	chr3:53838400-53841200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr3:53838400-53841200	Enhancers	A549	lung
20	chr3:53838400-53841200	Enhancers	NHLF	lung
21	chr3:53838400-53841400	Enhancers	HSMMtube	muscle
22	chr3:53838400-53842400	Enhancers	Fetal Heart	heart
23	chr3:53838600-53841000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr3:53838600-53841000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr3:53838600-53841200	Enhancers	Muscle Satellite Cultured Cells	--
26	chr3:53838800-53840200	Weak transcription	Left Ventricle	heart
27	chr3:53839000-53840800	Weak transcription	Spleen	Spleen
28	chr3:53839000-53841600	Enhancers	NHDF-Ad	bronchial
29	chr3:53839000-53841800	Enhancers	GM12878-XiMat	blood
30	chr3:53839000-53849800	Strong transcription	Fetal Lung	lung
31	chr3:53839200-53840400	Weak transcription	Ovary	ovary
32	chr3:53839200-53840400	Weak transcription	Right Atrium	heart
33	chr3:53839200-53855200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr3:53839400-53840400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr3:53839400-53840400	Weak transcription	Fetal Muscle Trunk	muscle
36	chr3:53839400-53840400	Weak transcription	Fetal Muscle Leg	muscle
37	chr3:53839400-53840400	Weak transcription	HMEC	breast
38	chr3:53839400-53840800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr3:53839400-53851400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr3:53839600-53840200	Enhancers	Osteobl	bone
41	chr3:53839600-53840600	Enhancers	Aorta	Aorta
42	chr3:53839600-53840800	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr3:53839600-53841000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr3:53839600-53849000	Weak transcription	Brain Cingulate Gyrus	brain
45	chr3:53839600-53851000	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr3:53839600-53851200	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr3:53839600-53852800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr3:53839600-53876600	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr3:53839800-53840200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr3:53839800-53840200	Weak transcription	Fetal Intestine Large	intestine

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