Variant report

Variant	rs2540127
Chromosome Location	chr12:4312008-4312009
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	chr12:4310884..4313842-chr12:4315895..4319716,3	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11063017	1.00[EUR][1000 genomes]
rs11063033	1.00[EUR][1000 genomes]
rs11063034	1.00[EUR][1000 genomes]
rs11063065	1.00[EUR][1000 genomes]
rs11063066	1.00[EUR][1000 genomes]
rs11835600	1.00[EUR][1000 genomes]
rs12298350	1.00[EUR][1000 genomes]
rs12298481	1.00[EUR][1000 genomes]
rs12301232	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12302183	1.00[EUR][1000 genomes]
rs12306960	1.00[EUR][1000 genomes]
rs12307582	1.00[EUR][1000 genomes]
rs12309433	1.00[EUR][1000 genomes]
rs12310230	1.00[EUR][1000 genomes]
rs12310388	1.00[EUR][1000 genomes]
rs12314722	1.00[EUR][1000 genomes]
rs12317148	1.00[EUR][1000 genomes]
rs12317697	1.00[EUR][1000 genomes]
rs12318331	1.00[EUR][1000 genomes]
rs12319140	1.00[EUR][1000 genomes]
rs12423695	1.00[EUR][1000 genomes]
rs2534781	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2540121	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2540124	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2540125	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2540126	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:24 , 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	chr12:4309000-4315400	Enhancers	Primary B cells from peripheral blood	blood
4	chr12:4310200-4312800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr12:4310200-4313400	Enhancers	H1 Cell Line	embryonic stem cell
6	chr12:4310400-4312800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr12:4310400-4313200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:4310600-4312400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:4310800-4312800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr12:4310800-4312800	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr12:4310800-4312800	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr12:4310800-4314800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr12:4311000-4312200	Weak transcription	Spleen	Spleen
14	chr12:4311000-4312800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr12:4311200-4314600	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr12:4311400-4314600	Enhancers	Primary hematopoietic stem cells	blood
17	chr12:4311400-4315600	Enhancers	H9 Cell Line	embryonic stem cell
18	chr12:4311600-4312400	Flanking Active TSS	Primary B cells from cord blood	blood
19	chr12:4311600-4312800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr12:4311600-4314000	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr12:4311800-4312600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr12:4311800-4312800	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr12:4312000-4312200	Enhancers	GM12878-XiMat	blood
24	chr12:4312000-4313400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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