Variant report

Variant	rs28571610
Chromosome Location	chr8:1992811-1992812
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	ZNF263	chr8:1992351-1993371	HEK293-T-REx	kidney:	n/a	n/a
2	KAP1	chr8:1992226-1994702	U2OS	brain:	n/a	n/a
3	KAP1	chr8:1992069-1994880	HEK293	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:1842826..1843459-chr8:1992468..1993115,2	K562	blood:

Variant related genes	Relation type
MYOM2	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10089072	0.84[EUR][1000 genomes]
rs10101852	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10104822	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10105544	1.00[ASN][1000 genomes]
rs10113032	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13249313	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13256075	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13261654	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13264316	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13268431	0.96[EUR][1000 genomes]
rs13282515	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28561745	0.84[EUR][1000 genomes]
rs35572206	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4875927	1.00[ASN][1000 genomes]
rs4876235	1.00[ASN][1000 genomes]
rs6558590	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6999774	0.82[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv889712	chr8:1591412-2337777	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1990800-1993000	Bivalent Enhancer	Fetal Muscle Leg	muscle
2	chr8:1990800-1993200	Enhancers	Fetal Heart	heart
3	chr8:1991200-1998200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:1991600-2005400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:1992000-1993600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
6	chr8:1992000-1994000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
7	chr8:1992000-1995400	Bivalent Enhancer	Fetal Thymus	thymus
8	chr8:1992200-1993000	Bivalent Enhancer	Fetal Intestine Small	intestine
9	chr8:1992200-1993000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr8:1992200-1993200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:1992200-1993200	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
12	chr8:1992200-1993200	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:1992200-1993200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:1992200-1993200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
15	chr8:1992200-1993400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
16	chr8:1992200-1993600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
17	chr8:1992200-1993600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
18	chr8:1992200-1993600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
19	chr8:1992200-1993800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
20	chr8:1992200-1994000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr8:1992200-1995600	Bivalent Enhancer	Fetal Stomach	stomach
22	chr8:1992400-1993000	Flanking Active TSS	Primary hematopoietic stem cells	blood
23	chr8:1992400-1993000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
24	chr8:1992400-1993400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr8:1992400-1993400	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
26	chr8:1992400-1993400	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
27	chr8:1992400-1993600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr8:1992400-1993800	Active TSS	Colon Smooth Muscle	Colon
29	chr8:1992400-1994000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr8:1992400-1994400	Enhancers	Fetal Kidney	kidney
31	chr8:1992400-1995600	Active TSS	Right Ventricle	heart
32	chr8:1992600-1993200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr8:1992600-1993200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr8:1992600-1993200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr8:1992600-1993200	Bivalent Enhancer	Primary B cells from cord blood	blood
36	chr8:1992600-1993200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
37	chr8:1992600-1993200	Flanking Active TSS	Rectal Smooth Muscle	rectum
38	chr8:1992600-1993200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr8:1992600-1993200	Bivalent Enhancer	Small Intestine	intestine
40	chr8:1992600-1993400	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr8:1992600-1993600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
42	chr8:1992600-1993800	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr8:1992600-1993800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr8:1992600-1994400	Enhancers	H1 Cell Line	embryonic stem cell
45	chr8:1992600-1994600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr8:1992600-1995600	Active TSS	Psoas Muscle	Psoas
47	chr8:1992600-1996600	Active TSS	Right Atrium	heart
48	chr8:1992800-1993000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr8:1992800-1993000	Enhancers	H9 Cell Line	embryonic stem cell
50	chr8:1992800-1993000	Bivalent Enhancer	Primary T cells from cord blood	blood

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