Variant report

Variant	rs58254944
Chromosome Location	chr3:53839611-53839612
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12496647	0.82[ASN][1000 genomes]
rs4563403	0.85[EUR][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:60 , 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	chr3:53830400-53839800	Weak transcription	Lung	lung
4	chr3:53830400-53851200	Weak transcription	Fetal Brain Male	brain
5	chr3:53830600-53840200	Weak transcription	Brain Angular Gyrus	brain
6	chr3:53830600-53840200	Weak transcription	Pancreas	Pancrea
7	chr3:53830800-53840200	Weak transcription	Brain Hippocampus Middle	brain
8	chr3:53832000-53839800	Strong transcription	Fetal Intestine Large	intestine
9	chr3:53832200-53839800	Strong transcription	Fetal Intestine Small	intestine
10	chr3:53833600-53840800	Weak transcription	Fetal Kidney	kidney
11	chr3:53837400-53839800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr3:53837400-53839800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr3:53837600-53841800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr3:53837800-53839800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr3:53838000-53840400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr3:53838000-53841800	Enhancers	Fetal Thymus	thymus
17	chr3:53838200-53839800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:53838200-53840200	Enhancers	HSMM	muscle
19	chr3:53838200-53841200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr3:53838200-53841200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr3:53838200-53841200	Enhancers	NH-A	brain
22	chr3:53838200-53841400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr3:53838200-53841600	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr3:53838200-53841600	Enhancers	Right Ventricle	heart
25	chr3:53838400-53841200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr3:53838400-53841200	Enhancers	A549	lung
27	chr3:53838400-53841200	Enhancers	NHLF	lung
28	chr3:53838400-53841400	Enhancers	HSMMtube	muscle
29	chr3:53838400-53842400	Enhancers	Fetal Heart	heart
30	chr3:53838600-53839800	Enhancers	Placenta	Placenta
31	chr3:53838600-53839800	Enhancers	Placenta Amnion	Placenta Amnion
32	chr3:53838600-53841000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr3:53838600-53841000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr3:53838600-53841200	Enhancers	Muscle Satellite Cultured Cells	--
35	chr3:53838800-53839800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr3:53838800-53840000	Enhancers	Brain Anterior Caudate	brain
37	chr3:53838800-53840200	Weak transcription	Left Ventricle	heart
38	chr3:53839000-53840800	Weak transcription	Spleen	Spleen
39	chr3:53839000-53841600	Enhancers	NHDF-Ad	bronchial
40	chr3:53839000-53841800	Enhancers	GM12878-XiMat	blood
41	chr3:53839000-53849800	Strong transcription	Fetal Lung	lung
42	chr3:53839200-53840400	Weak transcription	Ovary	ovary
43	chr3:53839200-53840400	Weak transcription	Right Atrium	heart
44	chr3:53839200-53855200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr3:53839400-53840000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr3:53839400-53840400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr3:53839400-53840400	Weak transcription	Fetal Muscle Trunk	muscle
48	chr3:53839400-53840400	Weak transcription	Fetal Muscle Leg	muscle
49	chr3:53839400-53840400	Weak transcription	HMEC	breast
50	chr3:53839400-53840800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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