Variant report

Variant	rs35888045
Chromosome Location	chr20:23016084-23016085
allele	A/C
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	GABPA	chr20:23016022-23016424	H1-hESC	embryonic stem cell:	n/a	n/a
2	RAD21	chr20:23015821-23016230	H1-hESC	embryonic stem cell:	n/a	n/a
3	GABPA	chr20:23015856-23016314	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAX	chr20:23016075-23016689	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000230492	TF binding region
ENSG00000234646	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs13306849	1.00[AMR][1000 genomes]
rs16984838	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28532517	1.00[AMR][1000 genomes]
rs34307615	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35902492	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35948817	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36204270	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41310177	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912816	chr20:22757960-23062927	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv524981	chr20:23011468-23021597	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv3400736	chr20:23014752-23018200	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23013200-23016200	Weak transcription	Lung	lung
2	chr20:23013200-23017400	Enhancers	Fetal Heart	heart
3	chr20:23014600-23016200	Weak transcription	Dnd41	blood
4	chr20:23015400-23016200	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
5	chr20:23015400-23016600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr20:23015600-23016400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
7	chr20:23015600-23016400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr20:23015600-23016400	Bivalent Enhancer	Fetal Brain Male	brain
9	chr20:23015600-23016600	Bivalent Enhancer	Fetal Muscle Leg	muscle
10	chr20:23015800-23016200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
11	chr20:23015800-23016200	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr20:23015800-23016200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr20:23015800-23016200	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr20:23015800-23016200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr20:23015800-23016200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
16	chr20:23015800-23016200	Enhancers	Placenta Amnion	Placenta Amnion
17	chr20:23015800-23016200	Bivalent/Poised TSS	Psoas Muscle	Psoas
18	chr20:23015800-23016200	Active TSS	Right Atrium	heart
19	chr20:23015800-23016400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr20:23015800-23016400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
21	chr20:23015800-23016400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
22	chr20:23015800-23016400	Bivalent/Poised TSS	Brain Anterior Caudate	brain
23	chr20:23015800-23016400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
24	chr20:23015800-23016400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
25	chr20:23015800-23016400	Bivalent/Poised TSS	Fetal Brain Female	brain
26	chr20:23015800-23016400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
27	chr20:23015800-23016600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
28	chr20:23015800-23016600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
29	chr20:23015800-23017600	ZNF genes & repeats	Spleen	Spleen
30	chr20:23016000-23016200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
31	chr20:23016000-23016200	Active TSS	Aorta	Aorta
32	chr20:23016000-23016200	Enhancers	Colonic Mucosa	Colon
33	chr20:23016000-23016200	Active TSS	Gastric	stomach
34	chr20:23016000-23016200	Flanking Bivalent TSS/Enh	Ovary	ovary
35	chr20:23016000-23016200	Flanking Active TSS	Right Ventricle	heart
36	chr20:23016000-23016400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
37	chr20:23016000-23016400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr20:23016000-23016400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr20:23016000-23016400	Flanking Active TSS	Primary hematopoietic stem cells	blood
40	chr20:23016000-23016400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr20:23016000-23016400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr20:23016000-23016400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr20:23016000-23016400	Bivalent/Poised TSS	Esophagus	oesophagus
44	chr20:23016000-23016600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
45	chr20:23016000-23016600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
46	chr20:23016000-23016600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
47	chr20:23016000-23016800	Enhancers	Pancreas	Pancrea
48	chr20:23016000-23026000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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