Variant report

Variant	rs62054769
Chromosome Location	chr16:31255610-31255611
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	chr16:31253838..31255685-chr16:31257972..31259890,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11574632	1.00[ASN][1000 genomes]
rs11574635	1.00[ASN][1000 genomes]
rs12920910	1.00[ASN][1000 genomes]
rs13336235	1.00[ASN][1000 genomes]
rs2230424	1.00[AFR][1000 genomes]
rs41370044	1.00[ASN][1000 genomes]
rs58200984	1.00[ASN][1000 genomes]
rs58352473	1.00[ASN][1000 genomes]
rs58656594	1.00[ASN][1000 genomes]
rs58827327	1.00[ASN][1000 genomes]
rs62051462	1.00[ASN][1000 genomes]
rs62051470	1.00[ASN][1000 genomes]
rs62051472	1.00[ASN][1000 genomes]
rs62051481	1.00[ASN][1000 genomes]
rs62051523	1.00[ASN][1000 genomes]
rs62054768	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72785569	0.80[AMR][1000 genomes]
rs72791981	1.00[ASN][1000 genomes]
rs8060163	1.00[ASN][1000 genomes]
rs9989432	0.83[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	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

No data

Chromatin state (count:25 , 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	chr16:31253600-31257000	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr16:31253600-31257800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr16:31253800-31257200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr16:31253800-31259200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr16:31254000-31257000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr16:31254000-31257000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr16:31254000-31257000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr16:31254200-31256600	Enhancers	Primary B cells from cord blood	blood
11	chr16:31254200-31256600	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr16:31254200-31259000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr16:31254400-31255800	Weak transcription	Spleen	Spleen
14	chr16:31254800-31256000	Enhancers	Primary hematopoietic stem cells	blood
15	chr16:31255000-31257200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr16:31255200-31256000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
17	chr16:31255200-31256000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr16:31255200-31256600	Enhancers	Primary B cells from peripheral blood	blood
19	chr16:31255400-31255800	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr16:31255400-31255800	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr16:31255400-31255800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr16:31255400-31256000	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr16:31255400-31256000	Flanking Active TSS	GM12878-XiMat	blood
24	chr16:31255400-31256000	Enhancers	K562	blood
25	chr16:31255600-31256600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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