Variant report

Variant	rs555948613
Chromosome Location	chr3:53837716-53837717
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:53826568..53829356-chr3:53836868..53838582,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53811400-53838600	Weak transcription	Spleen	Spleen
2	chr3:53811600-53843600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr3:53829200-53853000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr3:53829600-53838200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr3:53830400-53839800	Weak transcription	Lung	lung
6	chr3:53830400-53851200	Weak transcription	Fetal Brain Male	brain
7	chr3:53830600-53837800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr3:53830600-53838000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:53830600-53838600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr3:53830600-53838600	Weak transcription	Fetal Brain Female	brain
11	chr3:53830600-53840200	Weak transcription	Brain Angular Gyrus	brain
12	chr3:53830600-53840200	Weak transcription	Pancreas	Pancrea
13	chr3:53830800-53838200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr3:53830800-53838800	Weak transcription	Brain Anterior Caudate	brain
15	chr3:53830800-53840200	Weak transcription	Brain Hippocampus Middle	brain
16	chr3:53832000-53839800	Strong transcription	Fetal Intestine Large	intestine
17	chr3:53832200-53838800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr3:53832200-53839800	Strong transcription	Fetal Intestine Small	intestine
19	chr3:53833000-53838400	Weak transcription	Fetal Heart	heart
20	chr3:53833600-53838400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr3:53833600-53840800	Weak transcription	Fetal Kidney	kidney
22	chr3:53834400-53838000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr3:53834400-53838800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr3:53834600-53838600	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr3:53834800-53838000	Weak transcription	NHDF-Ad	bronchial
26	chr3:53834800-53838400	Weak transcription	HSMMtube	muscle
27	chr3:53837000-53838200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr3:53837400-53839000	Weak transcription	Fetal Lung	lung
29	chr3:53837400-53839800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr3:53837400-53839800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr3:53837600-53838800	Enhancers	Fetal Muscle Leg	muscle
32	chr3:53837600-53841800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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