Variant report

Variant	rs10505446
Chromosome Location	chr8:125593672-125593673
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125552970..125555595-chr8:125593265..125595640,2	K562	blood:
2	chr8:125592407..125595560-chr8:125595966..125599501,3	K562	blood:
3	chr8:125575006..125577289-chr8:125592864..125594877,2	MCF-7	breast:
4	chr8:125591885..125595054-chr8:125597547..125600154,4	K562	blood:
5	chr8:125548484..125551295-chr8:125592898..125594487,2	MCF-7	breast:
6	chr8:125573332..125574424-chr8:125592832..125593703,3	MCF-7	breast:
7	chr8:125585583..125587177-chr8:125592083..125594736,2	MCF-7	breast:
8	chr8:125568544..125569217-chr8:125593002..125594043,3	MCF-7	breast:
9	chr8:125592807..125597329-chr8:125826255..125829411,6	K562	blood:
10	chr8:125593451..125595490-chr8:125966290..125968595,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000255491	Chromatin interaction
ENSG00000147684	Chromatin interaction
ENSG00000170873	Chromatin interaction
ENSG00000147687	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10092678	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13276295	1.00[CHB][hapmap]
rs16899702	1.00[CHB][hapmap]
rs16899745	1.00[CHB][hapmap]
rs16899786	1.00[CHB][hapmap]
rs17298759	0.86[CEU][hapmap]
rs17298884	0.86[CEU][hapmap]
rs17298912	0.86[CEU][hapmap]
rs17299030	0.92[CEU][hapmap]
rs17299208	0.93[CEU][hapmap]
rs17299341	0.92[CEU][hapmap]
rs17300503	0.82[EUR][1000 genomes]
rs17372350	0.89[CEU][hapmap]
rs17372817	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4286935	0.93[CEU][hapmap]
rs4301438	1.00[CHB][hapmap]
rs6470248	0.86[CEU][hapmap]
rs7003893	0.88[EUR][1000 genomes]
rs7830235	0.84[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525649	chr8:125565328-125600818	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1024804	chr8:125575803-125600950	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1025014	chr8:125578314-125600950	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10505446	TRMT12	cis	multi-tissue	Pritchard
rs10505446	ZNF572	cis	cerebellum	SCAN

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125566000-125602400	Weak transcription	Aorta	Aorta
2	chr8:125566400-125600600	Weak transcription	NHEK	skin
3	chr8:125570800-125605000	Weak transcription	Colon Smooth Muscle	Colon
4	chr8:125574400-125609400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr8:125575600-125600600	Weak transcription	Fetal Kidney	kidney
6	chr8:125576800-125598200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr8:125578000-125598600	Weak transcription	Gastric	stomach
8	chr8:125578200-125598000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr8:125579400-125601600	Weak transcription	Brain Anterior Caudate	brain
10	chr8:125581200-125596400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr8:125584400-125617200	Weak transcription	Colonic Mucosa	Colon
12	chr8:125585000-125598400	Strong transcription	Liver	Liver
13	chr8:125585400-125609000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr8:125586400-125596600	Strong transcription	Fetal Intestine Small	intestine
15	chr8:125586400-125603600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr8:125586600-125598000	Strong transcription	Primary B cells from peripheral blood	blood
17	chr8:125586800-125598200	Strong transcription	Primary B cells from cord blood	blood
18	chr8:125586800-125598200	Weak transcription	Pancreas	Pancrea
19	chr8:125586800-125605000	Weak transcription	Right Atrium	heart
20	chr8:125586800-125605000	Weak transcription	NHDF-Ad	bronchial
21	chr8:125587000-125597000	Strong transcription	Fetal Brain Female	brain
22	chr8:125587000-125603400	Weak transcription	Stomach Mucosa	stomach
23	chr8:125587200-125595600	Weak transcription	Brain Substantia Nigra	brain
24	chr8:125587200-125605400	Weak transcription	Fetal Lung	lung
25	chr8:125587200-125605800	Weak transcription	Psoas Muscle	Psoas
26	chr8:125588000-125594800	Weak transcription	Fetal Heart	heart
27	chr8:125588600-125596000	Strong transcription	Spleen	Spleen
28	chr8:125588800-125597400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr8:125588800-125603400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr8:125589000-125595400	Strong transcription	Brain Germinal Matrix	brain
31	chr8:125589200-125595400	Strong transcription	Left Ventricle	heart
32	chr8:125589400-125594400	Weak transcription	HSMMtube	muscle
33	chr8:125589600-125597200	Strong transcription	Fetal Intestine Large	intestine
34	chr8:125589800-125597600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:125590200-125596400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr8:125590200-125596800	Strong transcription	HMEC	breast
37	chr8:125590400-125597400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr8:125590600-125594200	Weak transcription	K562	blood
39	chr8:125590600-125600600	Weak transcription	Stomach Smooth Muscle	stomach
40	chr8:125590800-125595800	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr8:125590800-125596000	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr8:125590800-125596400	Weak transcription	Brain Angular Gyrus	brain
43	chr8:125590800-125596600	Weak transcription	Rectal Smooth Muscle	rectum
44	chr8:125590800-125598800	Weak transcription	Right Ventricle	heart
45	chr8:125590800-125600600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr8:125590800-125603600	Strong transcription	HepG2	liver
47	chr8:125591000-125595200	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr8:125591000-125602600	Weak transcription	NHLF	lung
49	chr8:125591400-125595600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr8:125591400-125597200	Strong transcription	Rectal Mucosa Donor 31	rectum

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