Variant report

Variant	rs6037016
Chromosome Location	chr20:25062394-25062395
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	REST	chr20:25061158-25062456	ECC-1	luminal epithelium:	n/a	chr20:25061740-25061758 chr20:25061820-25061829 chr20:25061955-25061968
2	GABPA	chr20:25062084-25062550	H1-hESC	embryonic stem cell:	n/a	n/a
3	SUZ12	chr20:25061549-25065864	NT2-D1	testis:	n/a	n/a
4	CTBP2	chr20:25061593-25062487	H1-hESC	embryonic stem cell:	n/a	n/a
5	ZNF143	chr20:25061608-25062513	H1-hESC	embryonic stem cell:	n/a	chr20:25061763-25061773 chr20:25062207-25062225
6	REST	chr20:25061608-25062518	HepG2	liver:	n/a	chr20:25061740-25061758 chr20:25061820-25061829 chr20:25061955-25061968
7	REST	chr20:25061376-25062443	H1-hESC	embryonic stem cell:	n/a	chr20:25061740-25061758 chr20:25061820-25061829 chr20:25061955-25061968
8	RCOR1	chr20:25061631-25062513	HepG2	liver:	n/a	n/a
9	REST	chr20:25061267-25062399	A549	lung:	n/a	chr20:25061740-25061758 chr20:25061820-25061829 chr20:25061955-25061968
10	RAD21	chr20:25061587-25062407	H1-hESC	embryonic stem cell:	n/a	chr20:25061978-25061992
11	GTF2F1	chr20:25062140-25062513	H1-hESC	embryonic stem cell:	n/a	n/a
12	SMC3	chr20:25062140-25062405	K562	blood:	n/a	n/a
13	REST	chr20:25061036-25062526	HL-60	blood:	n/a	chr20:25061740-25061758 chr20:25061820-25061829 chr20:25061955-25061968

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:25054332..25057280-chr20:25059401..25062693,3	K562	blood:

Variant related genes	Relation type
VSX1	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs6050302	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062140	chr20:24807962-25304054	Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv544219	chr20:24807962-25304054	Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv1056345	chr20:24819570-25168159	Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv1055341	chr20:24848416-25302271	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv912826	chr20:24987787-25071454	Flanking Active TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25060600-25062600	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr20:25061600-25062400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr20:25061600-25064600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
4	chr20:25061800-25062400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr20:25061800-25062400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr20:25061800-25062400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
7	chr20:25061800-25062400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr20:25061800-25062400	Bivalent Enhancer	Stomach Mucosa	stomach
9	chr20:25061800-25062600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
10	chr20:25061800-25062600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr20:25061800-25062600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
12	chr20:25061800-25062600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
13	chr20:25061800-25062600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr20:25061800-25062600	Bivalent Enhancer	Lung	lung
15	chr20:25061800-25062600	Bivalent Enhancer	Ovary	ovary
16	chr20:25061800-25062600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
17	chr20:25061800-25062800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr20:25061800-25062800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
19	chr20:25061800-25062800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
20	chr20:25061800-25062800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
21	chr20:25061800-25062800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
22	chr20:25061800-25062800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr20:25061800-25062800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
24	chr20:25061800-25062800	Enhancers	Gastric	stomach
25	chr20:25061800-25062800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
26	chr20:25061800-25062800	Flanking Bivalent TSS/Enh	Thymus	Thymus
27	chr20:25061800-25063000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
28	chr20:25061800-25063000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr20:25061800-25063000	Bivalent Enhancer	Spleen	Spleen
30	chr20:25061800-25063400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
31	chr20:25061800-25063800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
32	chr20:25061800-25064000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
33	chr20:25061800-25064000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
34	chr20:25061800-25065800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
35	chr20:25061800-25065800	Bivalent Enhancer	Fetal Brain Male	brain
36	chr20:25061800-25065800	Enhancers	Pancreas	Pancrea
37	chr20:25062000-25062400	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr20:25062000-25062400	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr20:25062000-25062400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr20:25062000-25062400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr20:25062000-25062400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
42	chr20:25062000-25062400	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
43	chr20:25062000-25062400	Bivalent Enhancer	Fetal Muscle Leg	muscle
44	chr20:25062000-25062600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
45	chr20:25062000-25062800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
46	chr20:25062000-25062800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
47	chr20:25062000-25062800	Bivalent Enhancer	Placenta	Placenta
48	chr20:25062200-25062400	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr20:25062200-25062400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr20:25062200-25062400	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast

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