Variant report

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10774207	1.00[EUR][1000 genomes]
rs2430413	1.00[EUR][1000 genomes]
rs2534775	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2534776	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2534777	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2534778	1.00[EUR][1000 genomes]
rs2534779	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2534782	1.00[EUR][1000 genomes]
rs2534784	1.00[EUR][1000 genomes]
rs2534786	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2540122	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2540129	1.00[EUR][1000 genomes]
rs57187655	1.00[ASN][1000 genomes]
rs58352382	1.00[ASN][1000 genomes]
rs60433110	1.00[ASN][1000 genomes]
rs7964101	1.00[EUR][1000 genomes]
rs7967186	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7974877	1.00[EUR][1000 genomes]
rs7976361	1.00[EUR][1000 genomes]
rs7980172	1.00[EUR][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	nsv530520	chr12:3726841-4601757	Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1050474	chr12:4226760-4389238	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4303200-4313400	Weak transcription	Right Atrium	heart
2	chr12:4308600-4312600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr12:4309000-4310800	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr12:4309000-4311600	Enhancers	Primary B cells from cord blood	blood
5	chr12:4309000-4315400	Enhancers	Primary B cells from peripheral blood	blood
6	chr12:4309800-4310600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:4310200-4310600	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr12:4310200-4312800	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr12:4310200-4313400	Enhancers	H1 Cell Line	embryonic stem cell
10	chr12:4310400-4311000	Enhancers	Spleen	Spleen
11	chr12:4310400-4311400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr12:4310400-4312000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:4310400-4312800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr12:4310400-4313200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

Quick Search: