Variant report

Variant	rs73566424
Chromosome Location	chr13:79977774-79977775
allele	C/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	POLR2A	chr13:79977723-79978994	K562	blood:	n/a	n/a
2	POLR2A	chr13:79976521-79982167	GM12891	blood:	n/a	n/a
3	EP300	chr13:79977761-79978106	K562	blood:	n/a	n/a
4	MXI1	chr13:79977113-79977903	GM12878	blood:	n/a	n/a
5	CCNT2	chr13:79977740-79977912	K562	blood:	n/a	n/a
6	POLR2A	chr13:79977751-79978094	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr13:79977768-79977827	HepG2	liver:	n/a	n/a
8	KAP1	chr13:79976706-79977981	U2OS	brain:	n/a	chr13:79976976-79976985

No.	Distal block	Cell Line	Cell type
1	chr13:79964555..79966375-chr13:79975893..79978787,3	MCF-7	breast:
2	chr13:79976864..79978863-chr13:80022728..80024342,2	K562	blood:
3	chr13:79960135..79962154-chr13:79975987..79978661,2	K562	blood:

Variant related genes	Relation type
RBM26-AS1	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]
rs1410334	0.85[EUR][1000 genomes]
rs1410335	0.85[EUR][1000 genomes]
rs17071385	1.00[EUR][1000 genomes]
rs17071415	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17071499	0.80[EUR][1000 genomes]
rs41288268	0.80[EUR][1000 genomes]
rs57544957	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58056613	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs59755477	0.84[EUR][1000 genomes]
rs59773478	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6563107	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7318984	0.96[EUR][1000 genomes]
rs7329633	0.88[EUR][1000 genomes]
rs7330804	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs73548951	0.80[EUR][1000 genomes]
rs73548955	0.80[EUR][1000 genomes]
rs73551558	0.80[EUR][1000 genomes]
rs73564681	0.92[EUR][1000 genomes]
rs73566422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73566435	1.00[EUR][1000 genomes]
rs73566454	1.00[EUR][1000 genomes]
rs73566469	0.83[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs7491258	0.80[EUR][1000 genomes]
rs7984159	0.80[EUR][1000 genomes]
rs7985697	0.80[EUR][1000 genomes]
rs7992181	1.00[EUR][1000 genomes]
rs7997554	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs8000870	0.80[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	nsv832657	chr13:79904978-80099108	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:79951200-79979200	Weak transcription	Esophagus	oesophagus
2	chr13:79951800-79978200	Weak transcription	Aorta	Aorta
3	chr13:79952600-79977800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr13:79958800-79977800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr13:79968000-79977800	Weak transcription	Gastric	stomach
6	chr13:79968400-79979200	Weak transcription	Lung	lung
7	chr13:79968600-79977800	Weak transcription	Spleen	Spleen
8	chr13:79968600-79978600	Weak transcription	Placenta	Placenta
9	chr13:79968600-79978600	Weak transcription	Pancreas	Pancrea
10	chr13:79968600-79979200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr13:79969200-79977800	Weak transcription	Left Ventricle	heart
12	chr13:79970400-79977800	Weak transcription	HSMMtube	muscle
13	chr13:79971400-79979200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr13:79971600-79978800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr13:79971800-79977800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr13:79971800-79977800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr13:79971800-79977800	Weak transcription	Fetal Muscle Leg	muscle
18	chr13:79971800-79978600	Weak transcription	Fetal Muscle Trunk	muscle
19	chr13:79972200-79977800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr13:79973000-79978000	Enhancers	Fetal Brain Male	brain
21	chr13:79974400-79978600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr13:79974600-79977800	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr13:79974600-79979200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr13:79975000-79977800	Enhancers	Liver	Liver
25	chr13:79975400-79977800	Enhancers	Primary B cells from peripheral blood	blood
26	chr13:79975400-79977800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr13:79975400-79977800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr13:79975600-79977800	Enhancers	Brain Substantia Nigra	brain
29	chr13:79975600-79977800	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr13:79975600-79977800	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr13:79975600-79978800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr13:79975800-79977800	Weak transcription	Fetal Thymus	thymus
33	chr13:79975800-79977800	Enhancers	HMEC	breast
34	chr13:79975800-79978600	Enhancers	Stomach Mucosa	stomach
35	chr13:79975800-79979600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr13:79976000-79977800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr13:79976200-79977800	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr13:79976200-79977800	Flanking Active TSS	A549	lung
39	chr13:79976200-79981600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr13:79976400-79978000	Enhancers	Fetal Intestine Large	intestine
41	chr13:79976400-79979000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
42	chr13:79976600-79977800	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr13:79976600-79978000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr13:79976600-79978000	Enhancers	Colon Smooth Muscle	Colon
45	chr13:79976600-79978400	Flanking Active TSS	Fetal Brain Female	brain
46	chr13:79976600-79978400	Transcr. at gene 5' and 3'	Dnd41	blood
47	chr13:79976600-79979000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
48	chr13:79976600-79979400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr13:79976600-79981600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr13:79976800-79977800	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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