Variant report

Variant	rs28569941
Chromosome Location	chr8:2075060-2075061
allele	G/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	MAZ	chr8:2074565-2075528	IMR90	lung:	n/a	chr8:2074976-2074985 chr8:2075304-2075314
2	POLR2A	chr8:2074804-2075501	HCT-116	colon:	n/a	n/a
3	POLR2A	chr8:2074893-2075556	U87	brain:	n/a	n/a
4	NRF1	chr8:2075051-2076064	SK-N-SH	brain:	n/a	n/a
5	MAX	chr8:2075055-2075522	A549	lung:	n/a	chr8:2075304-2075314
6	POLR2A	chr8:2074899-2075997	U87	brain:	n/a	n/a
7	POLR2A	chr8:2074836-2076001	GM19193	blood:	n/a	n/a
8	SETDB1	chr8:2074913-2075302	U2OS	brain:	n/a	n/a
9	JUND	chr8:2074936-2075972	K562	blood:	n/a	chr8:2074977-2074985 chr8:2074976-2074987
10	POLR2A	chr8:2075019-2075548	HUVEC	blood vessel:	n/a	n/a
11	FOSL2	chr8:2074766-2075149	HepG2	liver:	n/a	chr8:2074977-2074985 chr8:2074976-2074987
12	POLR2A	chr8:2074950-2076071	PFSK-1	brain:	n/a	n/a
13	CREB1	chr8:2075043-2076203	K562	blood:	n/a	n/a
14	ZNF263	chr8:2073998-2075860	HEK293-T-REx	kidney:	n/a	n/a
15	POLR2A	chr8:2073996-2075557	IMR90	lung:	n/a	n/a
16	POLR2A	chr8:2075040-2075984	K562	blood:	n/a	n/a
17	ZNF263	chr8:2074438-2075369	K562	blood:	n/a	n/a
18	POLR2A	chr8:2074913-2075989	GM15510	blood:	n/a	n/a
19	MAX	chr8:2074994-2075541	A549	lung:	n/a	chr8:2075304-2075314
20	KAP1	chr8:2074912-2075166	U2OS	brain:	n/a	n/a
21	POLR2A	chr8:2074576-2075911	Gliobla	brain:	n/a	n/a
22	POLR2A	chr8:2075052-2076030	GM19099	blood:	n/a	n/a
23	POLR2A	chr8:2074970-2075961	ProgFib	skin:	n/a	n/a
24	CHD1	chr8:2074725-2075489	IMR90	lung:	n/a	n/a
25	POLR2A	chr8:2074820-2075492	HCT-116	colon:	n/a	n/a
26	JUND	chr8:2074881-2075121	H1-hESC	embryonic stem cell:	n/a	chr8:2074977-2074985 chr8:2074976-2074987
27	MYC	chr8:2075040-2075516	K562	blood:	n/a	chr8:2075304-2075314
28	POLR2A	chr8:2075039-2076039	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:2069861..2071998-chr8:2073315..2075589,3	K562	blood:

Variant related genes	Relation type
MYOM2	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10101799	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2280900	0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs34760293	0.80[ASN][1000 genomes]
rs34826206	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs35433772	0.81[ASN][1000 genomes]
rs35454276	0.81[ASN][1000 genomes]
rs3779820	0.88[ASN][1000 genomes]
rs3779822	0.88[ASN][1000 genomes]
rs3824170	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3824175	0.81[ASN][1000 genomes]
rs3824176	0.81[ASN][1000 genomes]
rs3824177	0.81[ASN][1000 genomes]
rs3824179	0.81[ASN][1000 genomes]
rs3824180	0.81[ASN][1000 genomes]
rs3824181	0.81[ASN][1000 genomes]
rs3824182	0.81[ASN][1000 genomes]
rs3824183	0.81[ASN][1000 genomes]
rs59279920	0.81[ASN][1000 genomes]
rs60166746	0.81[ASN][1000 genomes]
rs61610885	0.81[ASN][1000 genomes]
rs62479966	0.84[ASN][1000 genomes]
rs62479969	0.81[ASN][1000 genomes]
rs62479971	0.81[ASN][1000 genomes]
rs62479972	0.81[ASN][1000 genomes]
rs6991515	0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7003986	0.84[ASN][1000 genomes]
rs72621162	0.81[ASN][1000 genomes]
rs73657731	0.81[ASN][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:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:2074000-2075200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
2	chr8:2074400-2075200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:2074400-2075400	Flanking Active TSS	Dnd41	blood
4	chr8:2074400-2076200	Weak transcription	Fetal Heart	heart
5	chr8:2074400-2076400	Active TSS	Stomach Smooth Muscle	stomach
6	chr8:2074600-2075200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr8:2074600-2075400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:2074600-2075400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:2074600-2075400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
10	chr8:2074600-2075400	ZNF genes & repeats	Placenta	Placenta
11	chr8:2074600-2075400	Flanking Active TSS	NH-A	brain
12	chr8:2074600-2076000	Active TSS	Brain Substantia Nigra	brain
13	chr8:2074800-2075200	Flanking Active TSS	Thymus	Thymus
14	chr8:2074800-2075200	Flanking Active TSS	HSMM	muscle
15	chr8:2074800-2075400	Flanking Active TSS	Primary B cells from peripheral blood	blood
16	chr8:2074800-2075400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr8:2074800-2075400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
18	chr8:2074800-2075400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
19	chr8:2074800-2075400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr8:2074800-2075400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr8:2074800-2075400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr8:2074800-2075400	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr8:2074800-2075400	Flanking Active TSS	Liver	Liver
24	chr8:2074800-2076000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr8:2074800-2076000	Active TSS	Primary neutrophils fromperipheralblood	blood
26	chr8:2074800-2076000	Active TSS	Brain Cingulate Gyrus	brain
27	chr8:2074800-2076000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr8:2074800-2076000	Active TSS	Colonic Mucosa	Colon
29	chr8:2074800-2076000	Active TSS	Rectal Smooth Muscle	rectum
30	chr8:2074800-2076200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:2074800-2076200	Active TSS	Duodenum Mucosa	Duodenum
32	chr8:2074800-2076400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr8:2074800-2076400	Active TSS	Fetal Lung	lung
34	chr8:2074800-2076600	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr8:2074800-2076600	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr8:2075000-2075200	Enhancers	Primary hematopoietic stem cells	blood
37	chr8:2075000-2075200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
38	chr8:2075000-2075200	Flanking Active TSS	Brain Angular Gyrus	brain
39	chr8:2075000-2075200	Flanking Active TSS	Fetal Brain Male	brain
40	chr8:2075000-2075200	Flanking Active TSS	Fetal Intestine Large	intestine
41	chr8:2075000-2075200	Flanking Active TSS	Fetal Intestine Small	intestine
42	chr8:2075000-2075200	Flanking Active TSS	Lung	lung
43	chr8:2075000-2075200	Weak transcription	Spleen	Spleen
44	chr8:2075000-2075200	ZNF genes & repeats	GM12878-XiMat	blood
45	chr8:2075000-2075200	Bivalent Enhancer	HepG2	liver
46	chr8:2075000-2075200	Active TSS	HMEC	breast
47	chr8:2075000-2075200	Active TSS	K562	blood
48	chr8:2075000-2075200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr8:2075000-2075200	Flanking Active TSS	NHLF	lung
50	chr8:2075000-2075400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell

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