Variant report

Variant	rs4972719
Chromosome Location	chr2:173076509-173076510
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:173074149..173078197-chr2:173078477..173081943,3	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10803868	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10930526	0.87[EUR][1000 genomes]
rs10930527	0.85[ASN][1000 genomes]
rs10930528	0.87[ASN][1000 genomes]
rs10930529	0.87[ASN][1000 genomes]
rs10930530	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10930531	0.89[ASN][1000 genomes]
rs10930532	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10930533	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10930534	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10930535	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11684103	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12476259	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12614495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12614868	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12617862	0.85[ASN][1000 genomes]
rs12692997	0.89[EUR][1000 genomes]
rs12990778	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12991095	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12995943	0.88[ASN][1000 genomes]
rs13019357	1.00[ASN][1000 genomes]
rs13034707	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13034957	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13430020	0.99[EUR][1000 genomes]
rs1542676	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1812500	0.98[ASN][1000 genomes]
rs1906181	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2054832	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2357320	0.87[ASN][1000 genomes]
rs2884154	0.90[ASN][1000 genomes]
rs4467239	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4524096	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4571029	1.00[ASN][1000 genomes]
rs4583429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4972710	0.87[ASN][1000 genomes]
rs4972711	0.96[ASN][1000 genomes]
rs4972712	0.96[ASN][1000 genomes]
rs4972713	0.87[ASN][1000 genomes]
rs4972715	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4972716	0.89[ASN][1000 genomes]
rs4972717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4972718	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4972723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4972724	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4972725	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4972728	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55919266	1.00[ASN][1000 genomes]
rs62168965	0.96[ASN][1000 genomes]
rs6433336	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6433337	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6433338	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6433339	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6433340	0.84[ASN][1000 genomes]
rs6705155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6708636	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6709514	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6714712	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6717806	0.89[ASN][1000 genomes]
rs6743328	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6747259	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6747365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6751574	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7575468	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs963307	0.90[ASN][1000 genomes]
rs963308	1.00[ASN][1000 genomes]
rs9750439	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[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	nsv875413	chr2:173009413-173097343	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv3033	chr2:173063284-173108586	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173070000-173077800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr2:173070200-173078600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr2:173070600-173076800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr2:173070600-173077600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr2:173072600-173084200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr2:173073400-173080400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:173074000-173077200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr2:173074000-173078800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:173074000-173080400	Weak transcription	Right Atrium	heart
10	chr2:173074400-173077000	Weak transcription	Fetal Thymus	thymus
11	chr2:173074400-173078800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:173074400-173084600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr2:173074600-173078600	Weak transcription	NHEK	skin
14	chr2:173074600-173079000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:173074600-173079800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:173074600-173079800	Weak transcription	Placenta	Placenta
17	chr2:173075400-173077400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr2:173075600-173077600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:173075800-173076800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr2:173075800-173077600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:173075800-173078200	Enhancers	Primary T cells from cord blood	blood
22	chr2:173076200-173076600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:173076200-173076800	Enhancers	HMEC	breast
24	chr2:173076200-173077000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:173076200-173078200	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr2:173076200-173084000	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr2:173076400-173076600	Enhancers	Ovary	ovary
28	chr2:173076400-173076600	Enhancers	NHLF	lung
29	chr2:173076400-173076600	Enhancers	Osteobl	bone

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