Variant report

Variant	rs547937927
Chromosome Location	chr20:25503354-25503355
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:25491299..25493041-chr20:25501976..25504817,2	K562	blood:
2	chr20:25498962..25501422-chr20:25501455..25503650,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949389	chr20:25071454-25506582	Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1067379	chr20:25355484-25593240	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1060591	chr20:25388781-25628750	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv544223	chr20:25388781-25628750	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1067441	chr20:25397566-25615439	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv912828	chr20:25433015-25595175	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv1062452	chr20:25438025-25590278	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv1066066	chr20:25439367-25588016	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv544224	chr20:25439367-25588016	Genic enhancers ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv912829	chr20:25444242-25595175	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv912830	chr20:25449945-25595175	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
12	nsv912831	chr20:25449945-25595868	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	nsv994976	chr20:25466406-25593286	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
14	nsv534623	chr20:25466406-25593296	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
15	nsv1062765	chr20:25466482-25556751	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
16	nsv544225	chr20:25466482-25556751	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
17	nsv962544	chr20:25503311-25505365	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25489400-25505800	Weak transcription	NHDF-Ad	bronchial
2	chr20:25491200-25506200	Weak transcription	NHLF	lung
3	chr20:25493200-25512800	Weak transcription	Colon Smooth Muscle	Colon
4	chr20:25493600-25513000	Weak transcription	Left Ventricle	heart
5	chr20:25495600-25504800	Weak transcription	Osteobl	bone
6	chr20:25495800-25506400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr20:25495800-25519400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr20:25496000-25512400	Weak transcription	Brain Angular Gyrus	brain
9	chr20:25496000-25513200	Weak transcription	HUVEC	blood vessel
10	chr20:25496400-25505800	Weak transcription	NH-A	brain
11	chr20:25496400-25506400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr20:25497400-25512400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr20:25497400-25512400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr20:25497400-25514800	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr20:25497600-25506400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr20:25497600-25507200	Weak transcription	Colonic Mucosa	Colon
17	chr20:25497600-25512600	Weak transcription	Fetal Heart	heart
18	chr20:25497800-25506400	Weak transcription	HSMMtube	muscle
19	chr20:25497800-25512200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr20:25498000-25504800	Weak transcription	Lung	lung
21	chr20:25498000-25505800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr20:25498000-25506400	Weak transcription	Fetal Brain Male	brain
23	chr20:25498000-25506600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr20:25498000-25511000	Weak transcription	Brain Hippocampus Middle	brain
25	chr20:25498200-25503400	Weak transcription	Thymus	Thymus
26	chr20:25498200-25504000	Weak transcription	Fetal Intestine Small	intestine
27	chr20:25498200-25504000	Weak transcription	Fetal Stomach	stomach
28	chr20:25498200-25504800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr20:25498200-25504800	Weak transcription	Esophagus	oesophagus
30	chr20:25498200-25504800	Weak transcription	Stomach Smooth Muscle	stomach
31	chr20:25498200-25505800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr20:25498200-25505800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr20:25498200-25505800	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr20:25498200-25505800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr20:25498200-25505800	Weak transcription	Aorta	Aorta
36	chr20:25498200-25505800	Weak transcription	Spleen	Spleen
37	chr20:25498200-25506600	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr20:25498200-25506600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr20:25498200-25507000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr20:25498200-25507000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr20:25498200-25510800	Weak transcription	Brain Substantia Nigra	brain
42	chr20:25498200-25512200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr20:25498200-25512200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr20:25498200-25512600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr20:25498200-25512600	Weak transcription	Brain Anterior Caudate	brain
46	chr20:25498200-25512800	Weak transcription	Adipose Nuclei	Adipose
47	chr20:25498200-25513000	Weak transcription	Fetal Thymus	thymus
48	chr20:25498200-25514600	Weak transcription	Pancreas	Pancrea
49	chr20:25498200-25519000	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr20:25498200-25519400	Weak transcription	Gastric	stomach

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