Variant report

Variant	rs73116283
Chromosome Location	chr20:30073282-30073283
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr20:30073159-30074121	SK-N-SH	brain:	n/a	n/a
2	PBX3	chr20:30073268-30074006	SK-N-SH	brain:	n/a	n/a
3	MAX	chr20:30073146-30074013	SK-N-SH	brain:	n/a	n/a
4	EP300	chr20:30073270-30074175	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr20:30073104-30074106	SK-N-SH	brain:	n/a	n/a
6	NFIC	chr20:30073060-30074478	SK-N-SH	brain:	n/a	n/a
7	PBX3	chr20:30073222-30074160	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:29992014..29994023-chr20:30071484..30073415,2	K562	blood:
2	chr20:30070552..30073423-chr20:30079764..30081295,2	K562	blood:

Variant related genes	Relation type
LINC00028	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17328705	0.87[AFR][1000 genomes]
rs2233826	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs45520534	0.86[AMR][1000 genomes]
rs73102048	0.87[AFR][1000 genomes]
rs73116233	0.86[AMR][1000 genomes]
rs73116235	0.86[AMR][1000 genomes]
rs73116268	0.91[AMR][1000 genomes]
rs73116281	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73116282	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73116284	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869384	chr20:29833386-30605088	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	419 gene(s)	inside rSNPs	diseases
2	nsv470546	chr20:29833609-30235302	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	385 gene(s)	inside rSNPs	diseases
3	nsv1055527	chr20:29833958-30078925	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv1062069	chr20:29833958-30153486	Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv1062612	chr20:29833958-30219337	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	383 gene(s)	inside rSNPs	diseases
6	nsv1061673	chr20:29833958-30649496	Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	422 gene(s)	inside rSNPs	diseases
7	nsv544232	chr20:29833958-30649496	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	422 gene(s)	inside rSNPs	diseases
8	nsv1058344	chr20:29835037-30386611	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	402 gene(s)	inside rSNPs	diseases
9	nsv1059672	chr20:29835037-30621271	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	419 gene(s)	inside rSNPs	diseases
10	esv2763228	chr20:29835049-30239522	Genic enhancers Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	385 gene(s)	inside rSNPs	diseases
11	nsv949085	chr20:29846303-30473188	Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	414 gene(s)	inside rSNPs	diseases
12	nsv1058639	chr20:29877877-30101083	Weak transcription Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
13	nsv544235	chr20:29877877-30101083	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
14	nsv1058020	chr20:29877877-30197681	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	381 gene(s)	inside rSNPs	diseases
15	nsv544236	chr20:29877877-30197681	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	381 gene(s)	inside rSNPs	diseases
16	nsv1063560	chr20:29877877-30435888	Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	407 gene(s)	inside rSNPs	diseases
17	nsv544237	chr20:29877877-30435888	Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	407 gene(s)	inside rSNPs	diseases
18	nsv458961	chr20:29893501-30275906	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	383 gene(s)	inside rSNPs	diseases
19	nsv585911	chr20:29893501-30275906	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	383 gene(s)	inside rSNPs	diseases
20	nsv1067177	chr20:29900572-30299363	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	383 gene(s)	inside rSNPs	diseases
21	nsv1067419	chr20:30029545-30162261	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
22	nsv544238	chr20:30029545-30162261	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:30072200-30073400	Bivalent Enhancer	Fetal Stomach	stomach
2	chr20:30072200-30073600	Weak transcription	Pancreas	Pancrea
3	chr20:30072200-30075400	Weak transcription	A549	lung
4	chr20:30072200-30076800	Weak transcription	Gastric	stomach
5	chr20:30072800-30073400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr20:30072800-30073400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
7	chr20:30073000-30073400	Bivalent Enhancer	Fetal Muscle Leg	muscle
8	chr20:30073000-30073400	Enhancers	Right Ventricle	heart
9	chr20:30073200-30073400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
10	chr20:30073200-30073400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
11	chr20:30073200-30073400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr20:30073200-30073400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr20:30073200-30073400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr20:30073200-30073400	Flanking Bivalent TSS/Enh	Fetal Lung	lung
15	chr20:30073200-30073400	Enhancers	Ovary	ovary
16	chr20:30073200-30073400	Enhancers	Rectal Smooth Muscle	rectum
17	chr20:30073200-30073400	Enhancers	Right Atrium	heart
18	chr20:30073200-30073400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
19	chr20:30073200-30073400	Flanking Active TSS	K562	blood
20	chr20:30073200-30073600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr20:30073200-30073600	Active TSS	Colon Smooth Muscle	Colon
22	chr20:30073200-30073600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
23	chr20:30073200-30073600	Bivalent Enhancer	Lung	lung
24	chr20:30073200-30073600	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
25	chr20:30073200-30073800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
26	chr20:30073200-30073800	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr20:30073200-30073800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
28	chr20:30073200-30073800	Enhancers	Fetal Heart	heart
29	chr20:30073200-30073800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
30	chr20:30073200-30073800	Enhancers	Placenta	Placenta
31	chr20:30073200-30073800	Active TSS	Osteobl	bone
32	chr20:30073200-30074000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr20:30073200-30074000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr20:30073200-30074000	Flanking Active TSS	Stomach Smooth Muscle	stomach
35	chr20:30073200-30074200	Bivalent Enhancer	Fetal Intestine Small	intestine
36	chr20:30073200-30074400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
37	chr20:30073200-30074400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
38	chr20:30073200-30074400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr20:30073200-30074400	Enhancers	Colonic Mucosa	Colon
40	chr20:30073200-30074600	Enhancers	Primary hematopoietic stem cells	blood

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