Variant report

Variant	rs12920848
Chromosome Location	chr16:31254679-31254680
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	chr16:31253838..31255685-chr16:31257972..31259890,2	K562	blood:
2	chr16:31252663..31255593-chr16:31260299..31264872,4	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10468372	0.85[AFR][1000 genomes]
rs10871455	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12595855	0.82[AFR][1000 genomes]
rs12934814	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1423934	0.89[AMR][1000 genomes]
rs2081224	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2098730	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3948508	0.89[AMR][1000 genomes]
rs41374952	0.89[AMR][1000 genomes]
rs41441649	0.89[AMR][1000 genomes]
rs4265814	0.85[AFR][1000 genomes]
rs4889541	0.89[AMR][1000 genomes]
rs4889637	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4889638	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4889641	1.00[AMR][1000 genomes]
rs4889642	0.89[AMR][1000 genomes]
rs4889643	0.89[AMR][1000 genomes]
rs6565221	0.89[AMR][1000 genomes]
rs7192718	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8063978	0.89[AMR][1000 genomes]
rs8064116	0.83[AFR][1000 genomes]
rs889552	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs929867	0.89[AMR][1000 genomes]
rs9940968	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
2	nsv1066073	chr16:31219071-31278572	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	esv3414647	chr16:31254430-31254693	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31250400-31262600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr16:31252600-31258000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr16:31252800-31255200	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr16:31253600-31257000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr16:31253600-31257800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr16:31253800-31255200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr16:31253800-31255400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr16:31253800-31255400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr16:31253800-31257200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr16:31253800-31259200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr16:31254000-31255000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr16:31254000-31255400	Weak transcription	K562	blood
13	chr16:31254000-31257000	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr16:31254000-31257000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr16:31254000-31257000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr16:31254200-31255200	Weak transcription	GM12878-XiMat	blood
17	chr16:31254200-31255400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr16:31254200-31256600	Enhancers	Primary B cells from cord blood	blood
19	chr16:31254200-31256600	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr16:31254200-31259000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr16:31254400-31255200	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr16:31254400-31255800	Weak transcription	Spleen	Spleen

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