Variant report

Variant	rs60166269
Chromosome Location	chr1:151820845-151820846
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:151818078..151821727-chr1:151829199..151833455,4	MCF-7	breast:
2	chr1:151567685..151569478-chr1:151820200..151821930,2	MCF-7	breast:
3	chr1:151820575..151822098-chr1:151823617..151826413,2	K562	blood:
4	chr1:151820598..151822104-chr1:151824913..151827460,2	K562	blood:
5	chr1:151817773..151822675-chr1:151880093..151884786,6	K562	blood:
6	chr1:151819170..151821882-chr1:151830861..151833145,2	K562	blood:

Variant related genes	Relation type
ENSG00000159445	Chromatin interaction
ENSG00000196407	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1056037	0.90[ASN][1000 genomes]
rs1129117	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12567049	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16833584	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16833599	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16833604	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2279503	0.90[ASN][1000 genomes]
rs2879130	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61815147	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6587625	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs745055	0.81[ASN][1000 genomes]
rs7524706	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7556386	0.89[ASN][1000 genomes]
rs923547	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs998500	0.86[ASN][1000 genomes]
rs998501	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1804657	chr1:151784152-151825756	Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv1008033	chr1:151785029-151843154	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151813400-151821200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr1:151813400-151828600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr1:151814800-151827400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:151818400-151824400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:151818600-151821000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr1:151819200-151825200	Weak transcription	Gastric	stomach
7	chr1:151819200-151827200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:151819200-151847600	Weak transcription	Thymus	Thymus
9	chr1:151819400-151821800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr1:151819800-151821400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:151820000-151825800	Weak transcription	Hela-S3	cervix
12	chr1:151820200-151821000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:151820200-151821800	Enhancers	HUVEC	blood vessel
14	chr1:151820400-151821400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr1:151820400-151821400	Enhancers	Ovary	ovary
16	chr1:151820400-151821400	Enhancers	Spleen	Spleen
17	chr1:151820400-151821600	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr1:151820400-151821600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr1:151820400-151821600	Bivalent Enhancer	Fetal Stomach	stomach
20	chr1:151820400-151821600	Enhancers	Lung	lung
21	chr1:151820400-151822000	Bivalent Enhancer	Fetal Muscle Leg	muscle
22	chr1:151820400-151822400	Enhancers	Primary hematopoietic stem cells	blood
23	chr1:151820400-151822400	Enhancers	Fetal Lung	lung
24	chr1:151820600-151821800	Enhancers	Primary T cells fromperipheralblood	blood
25	chr1:151820600-151822000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:151820600-151827200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr1:151820800-151821000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:151820800-151821000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr1:151820800-151821000	Genic enhancers	Right Atrium	heart
30	chr1:151820800-151821200	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr1:151820800-151821400	Enhancers	HSMMtube	muscle
32	chr1:151820800-151821600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr1:151820800-151821600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr1:151820800-151822000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:151820800-151822000	Enhancers	Adipose Nuclei	Adipose
36	chr1:151820800-151822200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:151820800-151822200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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