Variant report

Variant	rs58256493
Chromosome Location	chr10:45407185-45407186
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:45406784..45409410-chr10:45454257..45456258,2	K562	blood:

Variant related genes	Relation type
ENSG00000107551	Chromatin interaction
ENSG00000273363	Chromatin interaction
ENSG00000224812	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11239280	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12221140	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs12570098	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12572783	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17157212	0.96[ASN][1000 genomes]
rs1977584	0.96[ASN][1000 genomes]
rs56830236	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57173473	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73277463	1.00[ASN][1000 genomes]
rs7894612	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv517161	chr10:45210690-45416256	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv831844	chr10:45228791-45407762	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv831845	chr10:45300268-45460395	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv831846	chr10:45322236-45556370	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45401400-45415600	Weak transcription	Fetal Brain Female	brain
2	chr10:45401600-45410200	Enhancers	Fetal Muscle Leg	muscle
3	chr10:45402000-45407800	Weak transcription	Primary T cells from cord blood	blood
4	chr10:45403200-45409000	Enhancers	Fetal Thymus	thymus
5	chr10:45403800-45410000	Enhancers	Pancreas	Pancrea
6	chr10:45404000-45408800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr10:45404600-45409400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr10:45405000-45408000	Weak transcription	Thymus	Thymus
9	chr10:45405000-45408600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr10:45405600-45407600	Enhancers	Fetal Intestine Small	intestine
11	chr10:45405800-45407600	Enhancers	Fetal Intestine Large	intestine
12	chr10:45405800-45409000	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr10:45406000-45407200	Enhancers	Liver	Liver
14	chr10:45406000-45407200	Flanking Bivalent TSS/Enh	HepG2	liver
15	chr10:45406000-45407400	Enhancers	Stomach Mucosa	stomach
16	chr10:45406000-45407800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr10:45406000-45407800	Enhancers	Ovary	ovary
18	chr10:45406200-45407200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr10:45406200-45407200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr10:45406200-45407200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr10:45406200-45407200	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr10:45406200-45407200	Enhancers	Fetal Lung	lung
23	chr10:45406200-45407400	Enhancers	H1 Cell Line	embryonic stem cell
24	chr10:45406200-45407600	Enhancers	Spleen	Spleen
25	chr10:45406200-45408800	Enhancers	Fetal Heart	heart
26	chr10:45406400-45407200	Enhancers	Right Atrium	heart
27	chr10:45406400-45407600	Active TSS	Rectal Smooth Muscle	rectum
28	chr10:45406400-45408400	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr10:45406400-45408800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr10:45406400-45409000	Enhancers	K562	blood
31	chr10:45406400-45419000	Weak transcription	Stomach Smooth Muscle	stomach
32	chr10:45406600-45407200	Enhancers	Esophagus	oesophagus
33	chr10:45406600-45407400	Flanking Active TSS	Colonic Mucosa	Colon
34	chr10:45406600-45407600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr10:45406600-45407600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
36	chr10:45406600-45407600	Enhancers	Gastric	stomach
37	chr10:45406600-45408000	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr10:45406600-45408400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr10:45406600-45408800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr10:45406600-45409000	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr10:45406600-45409400	Active TSS	Fetal Kidney	kidney
42	chr10:45406600-45410000	Enhancers	Lung	lung
43	chr10:45406800-45407200	Enhancers	Left Ventricle	heart
44	chr10:45406800-45407400	Weak transcription	Primary hematopoietic stem cells	blood
45	chr10:45406800-45407600	Enhancers	Right Ventricle	heart
46	chr10:45406800-45407800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
47	chr10:45406800-45407800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
48	chr10:45407000-45407200	Enhancers	H9 Cell Line	embryonic stem cell
49	chr10:45407000-45407200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
50	chr10:45407000-45407400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell

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