Variant report

Variant	rs4972725
Chromosome Location	chr2:173077922-173077923
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	chr2:173074149..173078197-chr2:173078477..173081943,3	K562	blood:
2	chr2:173072751..173074483-chr2:173077609..173079587,2	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10803868	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10930527	0.85[ASN][1000 genomes]
rs10930528	0.87[ASN][1000 genomes]
rs10930529	0.87[ASN][1000 genomes]
rs10930530	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10930531	0.89[ASN][1000 genomes]
rs10930532	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10930533	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10930534	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10930535	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11684103	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12476259	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12614495	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12614868	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12617862	0.85[ASN][1000 genomes]
rs12692997	1.00[EUR][1000 genomes]
rs12990778	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12991095	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12995943	0.88[ASN][1000 genomes]
rs13019357	1.00[ASN][1000 genomes]
rs13034707	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13034957	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13430020	0.88[EUR][1000 genomes]
rs1542676	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1812500	0.98[ASN][1000 genomes]
rs1906181	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2054832	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2357320	0.87[ASN][1000 genomes]
rs2884154	0.90[ASN][1000 genomes]
rs4467239	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4524096	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4571029	1.00[ASN][1000 genomes]
rs4583429	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[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	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4972716	0.89[ASN][1000 genomes]
rs4972717	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4972718	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4972719	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4972723	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4972724	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4972728	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55919266	1.00[ASN][1000 genomes]
rs62168965	0.96[ASN][1000 genomes]
rs6433336	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6433337	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6433338	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6433339	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6433340	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6705155	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6708636	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6709514	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6714712	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6717806	0.89[ASN][1000 genomes]
rs6743328	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6747259	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6747365	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6751574	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7575468	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs963307	0.90[ASN][1000 genomes]
rs963308	1.00[ASN][1000 genomes]
rs9750439	1.00[AMR][1000 genomes];1.00[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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173070200-173078600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr2:173072600-173084200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr2:173073400-173080400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:173074000-173078800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:173074000-173080400	Weak transcription	Right Atrium	heart
6	chr2:173074400-173078800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:173074400-173084600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr2:173074600-173078600	Weak transcription	NHEK	skin
9	chr2:173074600-173079000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:173074600-173079800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:173074600-173079800	Weak transcription	Placenta	Placenta
12	chr2:173075800-173078200	Enhancers	Primary T cells from cord blood	blood
13	chr2:173076200-173078200	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr2:173076200-173084000	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr2:173076600-173078000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr2:173076600-173078200	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr2:173076800-173078000	Weak transcription	HMEC	breast
18	chr2:173076800-173078200	Enhancers	Primary T cells fromperipheralblood	blood
19	chr2:173076800-173078200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr2:173076800-173078400	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr2:173076800-173078400	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr2:173076800-173080200	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr2:173077000-173078200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:173077000-173078200	Enhancers	Fetal Thymus	thymus
25	chr2:173077400-173078600	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr2:173077400-173081400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr2:173077400-173082600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:173077600-173078200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr2:173077600-173078200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:173077600-173078400	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr2:173077600-173078600	Enhancers	Brain Anterior Caudate	brain
32	chr2:173077600-173087200	Weak transcription	Thymus	Thymus
33	chr2:173077800-173078400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr2:173077800-173078600	Enhancers	Cortex derived primary cultured neurospheres	brain

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