Variant report

Variant	rs10101852
Chromosome Location	chr8:1992205-1992206
allele	A/T
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	KAP1	chr8:1992069-1994880	HEK293	kidney:	n/a	n/a

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	0.82[EUR][1000 genomes]
rs10104822	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10105544	1.00[ASN][1000 genomes]
rs10113032	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13249313	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13256075	0.96[AMR][1000 genomes];0.96[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	0.99[EUR][1000 genomes]
rs13282515	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28561745	0.87[EUR][1000 genomes]
rs28571610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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	1.00[ASN][1000 genomes]
rs6999774	0.84[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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1983200-1992400	Weak transcription	Right Ventricle	heart
2	chr8:1990800-1993000	Bivalent Enhancer	Fetal Muscle Leg	muscle
3	chr8:1990800-1993200	Enhancers	Fetal Heart	heart
4	chr8:1991200-1992800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr8:1991200-1998200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:1991600-1992400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
7	chr8:1991600-2005400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr8:1991800-1992400	Enhancers	Primary hematopoietic stem cells	blood
9	chr8:1992000-1992400	Enhancers	Colon Smooth Muscle	Colon
10	chr8:1992000-1992400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
11	chr8:1992000-1992600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:1992000-1993600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
13	chr8:1992000-1994000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
14	chr8:1992000-1995400	Bivalent Enhancer	Fetal Thymus	thymus
15	chr8:1992200-1992400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
16	chr8:1992200-1992400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr8:1992200-1992600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr8:1992200-1992600	Enhancers	Esophagus	oesophagus
19	chr8:1992200-1992600	Enhancers	Left Ventricle	heart
20	chr8:1992200-1992600	Enhancers	Rectal Smooth Muscle	rectum
21	chr8:1992200-1992800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr8:1992200-1992800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
23	chr8:1992200-1992800	Enhancers	HSMMtube	muscle
24	chr8:1992200-1992800	Flanking Bivalent TSS/Enh	NHEK	skin
25	chr8:1992200-1993000	Bivalent Enhancer	Fetal Intestine Small	intestine
26	chr8:1992200-1993000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr8:1992200-1993200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr8:1992200-1993200	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
29	chr8:1992200-1993200	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:1992200-1993200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr8:1992200-1993200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
32	chr8:1992200-1993400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
33	chr8:1992200-1993600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
34	chr8:1992200-1993600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
35	chr8:1992200-1993600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
36	chr8:1992200-1993800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
37	chr8:1992200-1994000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr8:1992200-1995600	Bivalent Enhancer	Fetal Stomach	stomach

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