Variant report

Variant	rs41507448
Chromosome Location	chr16:31343577-31343578
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:31341937..31343785-chr16:31345527..31347045,2	K562	blood:
2	chr16:31308392..31310591-chr16:31341817..31344039,2	K562	blood:
3	chr16:31198991..31202851-chr16:31343045..31346880,4	K562	blood:
4	chr16:31342392..31343986-chr16:31347244..31349142,2	MCF-7	breast:
5	chr16:31225253..31228025-chr16:31342774..31345764,2	MCF-7	breast:
6	chr16:31211282..31213179-chr16:31343243..31345626,2	K562	blood:
7	chr16:31190368..31193316-chr16:31342467..31345225,2	K562	blood:
8	chr16:31331494..31335412-chr16:31342610..31345111,3	K562	blood:
9	chr16:31118693..31121313-chr16:31341607..31344535,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COX6A2-4	chr16:31343328-31344118	NONHSAT141894

No data

Variant related genes	Relation type
ENSG00000089280	Chromatin interaction
ENSG00000252809	Chromatin interaction
ENSG00000103507	Chromatin interaction
ENSG00000177238	Chromatin interaction
ENSG00000169900	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2230425	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41408845	1.00[AMR][1000 genomes]
rs41474849	0.91[AFR][1000 genomes]
rs41476945	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41508646	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41514252	1.00[AMR][1000 genomes]
rs41519244	0.91[AFR][1000 genomes]
rs72550859	1.00[AMR][1000 genomes]
rs72550884	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059459	chr16:31299088-31462251	Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv542901	chr16:31299088-31462251	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv3392534	chr16:31303038-31573066	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	104 gene(s)	inside rSNPs	diseases
4	nsv1058992	chr16:31337455-31414881	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv542902	chr16:31337455-31414881	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv1061980	chr16:31338462-31415471	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31323000-31344600	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr16:31342800-31344200	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr16:31342800-31344400	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr16:31343000-31343600	Flanking Bivalent TSS/Enh	HMEC	breast
5	chr16:31343000-31400800	Weak transcription	Right Atrium	heart
6	chr16:31343200-31343600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr16:31343200-31343600	Transcr. at gene 5' and 3'	Spleen	Spleen
8	chr16:31343200-31343800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr16:31343200-31344000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
10	chr16:31343200-31344400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr16:31343200-31345000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr16:31343200-31345000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr16:31343200-31345000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr16:31343200-31345400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr16:31343400-31343600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr16:31343400-31344200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr16:31343400-31344600	Weak transcription	Primary B cells from peripheral blood	blood
18	chr16:31343400-31344800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr16:31343400-31345000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr16:31343400-31345000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr16:31343400-31345000	Weak transcription	Gastric	stomach

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