Variant report

Variant	rs45562941
Chromosome Location	chr10:97022157-97022158
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:97007670..97009998-chr10:97020607..97023208,2	K562	blood:
2	chr10:96989618..96991184-chr10:97021389..97024082,2	MCF-7	breast:
3	chr10:96990145..96991863-chr10:97020383..97022213,2	MCF-7	breast:
4	chr10:97021192..97022891-chr10:97052326..97054601,2	K562	blood:
5	chr10:97018988..97023049-chr10:97048311..97051430,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000107438	Chromatin interaction
ENSG00000234026	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10509685	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12765981	0.85[ASN][1000 genomes]
rs12769370	0.85[ASN][1000 genomes]
rs12783709	0.85[ASN][1000 genomes]
rs17453729	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17453764	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17453855	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17526000	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1854338	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34976996	0.85[ASN][1000 genomes]
rs35777379	0.81[ASN][1000 genomes]
rs35830045	0.92[ASN][1000 genomes]
rs45444597	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs45447693	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs45493292	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45498798	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45518536	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs45533831	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs45554238	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45555036	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs45569042	0.95[ASN][1000 genomes]
rs45591738	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45605435	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7912686	0.92[ASN][1000 genomes]

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	nsv497859	chr10:96058024-97027747	Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv529726	chr10:96632494-97106315	Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	esv15160	chr10:96942869-97074756	Bivalent Enhancer Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:96991000-97024000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr10:96998400-97030200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr10:97000400-97024400	Weak transcription	Fetal Kidney	kidney
4	chr10:97007000-97026400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr10:97009200-97028200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr10:97016200-97022200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr10:97016200-97023000	Strong transcription	Sigmoid Colon	Sigmoid Colon
8	chr10:97016400-97023000	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr10:97016400-97026200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr10:97016800-97036000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr10:97017200-97024400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr10:97017600-97022200	Strong transcription	Primary B cells from cord blood	blood
13	chr10:97018000-97024000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr10:97018800-97023800	Strong transcription	H9 Cell Line	embryonic stem cell
15	chr10:97018800-97030000	Weak transcription	Thymus	Thymus
16	chr10:97019200-97023400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr10:97019200-97023600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr10:97019200-97024800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr10:97019400-97026400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr10:97019600-97024800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr10:97019800-97023600	Genic enhancers	Placenta Amnion	Placenta Amnion
22	chr10:97019800-97023800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr10:97020000-97022400	Enhancers	Fetal Heart	heart
24	chr10:97020000-97024000	Genic enhancers	Left Ventricle	heart
25	chr10:97020000-97026600	Genic enhancers	Fetal Intestine Large	intestine
26	chr10:97020200-97022600	Genic enhancers	Right Ventricle	heart
27	chr10:97020200-97023000	Weak transcription	Aorta	Aorta
28	chr10:97020200-97024200	Genic enhancers	Lung	lung
29	chr10:97020200-97024600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
30	chr10:97020200-97025000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr10:97020200-97026600	Genic enhancers	Fetal Intestine Small	intestine
32	chr10:97020200-97026600	Enhancers	Right Atrium	heart
33	chr10:97020400-97023600	Genic enhancers	HUES64 Cell Line	embryonic stem cell
34	chr10:97020400-97024400	Genic enhancers	HUES6 Cell Line	embryonic stem cell
35	chr10:97020400-97027000	Genic enhancers	HepG2	liver
36	chr10:97020800-97022400	Weak transcription	Gastric	stomach
37	chr10:97020800-97023000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr10:97020800-97023600	Weak transcription	Fetal Thymus	thymus
39	chr10:97020800-97024400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr10:97021000-97022400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr10:97021000-97023400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr10:97021000-97023600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr10:97021000-97023600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr10:97021000-97026200	Weak transcription	Colon Smooth Muscle	Colon
45	chr10:97021000-97026600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr10:97021000-97034400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr10:97021200-97023000	Weak transcription	Esophagus	oesophagus
48	chr10:97021200-97023400	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr10:97021200-97023600	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr10:97021200-97025200	Strong transcription	GM12878-XiMat	blood

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