Variant report

Variant	rs73538310
Chromosome Location	chr16:31415640-31415641
allele	A/G
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:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:31415190..31417211-chr16:31469405..31471164,2	K562	blood:
2	chr16:31370070..31372965-chr16:31413920..31417255,3	K562	blood:
3	chr11:9482374..9482990-chr16:31415165..31415976,2	Hela-S3	cervix:
4	chr16:31415289..31417265-chr16:31468628..31470943,2	MCF-7	breast:
5	chr16:31414435..31419605-chr16:31467873..31472757,5	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ITGAX-1	chr16:31414558-31416020	ENSG00000260757.1

No data

Variant related genes	Relation type
ENSG00000166478	Chromatin interaction
ENSG00000140678	Chromatin interaction
ENSG00000260267	Chromatin interaction
ENSG00000140691	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs28461986	1.00[AMR][1000 genomes]
rs28591177	1.00[AMR][1000 genomes]
rs28609583	1.00[AMR][1000 genomes]
rs28718308	1.00[AMR][1000 genomes]
rs57568583	1.00[AMR][1000 genomes]
rs73538311	1.00[AMR][1000 genomes]
rs73538318	1.00[AMR][1000 genomes]
rs8049217	1.00[AMR][1000 genomes]
rs9927845	1.00[AMR][1000 genomes]
rs9937602	1.00[AMR][1000 genomes]
rs9939894	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv833194	chr16:31358179-31528545	Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
5	nsv1059610	chr16:31368699-31421660	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	esv3438651	chr16:31373520-31422007	Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv905747	chr16:31394179-31888684	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	123 gene(s)	inside rSNPs	diseases
8	nsv1066280	chr16:31396464-31452067	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31411400-31416200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr16:31411800-31438600	Weak transcription	Spleen	Spleen
3	chr16:31413800-31416000	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr16:31414400-31416000	Enhancers	Placenta Amnion	Placenta Amnion
5	chr16:31414800-31416400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr16:31415000-31415800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr16:31415000-31416200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr16:31415000-31416200	Active TSS	Hela-S3	cervix
9	chr16:31415000-31416200	Active TSS	Osteobl	bone
10	chr16:31415200-31415800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr16:31415200-31416000	Active TSS	HSMM	muscle
12	chr16:31415200-31416200	Active TSS	A549	lung
13	chr16:31415400-31415800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr16:31415400-31415800	Enhancers	Duodenum Mucosa	Duodenum
15	chr16:31415400-31415800	Enhancers	Placenta	Placenta
16	chr16:31415400-31415800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
17	chr16:31415400-31415800	Enhancers	GM12878-XiMat	blood
18	chr16:31415400-31415800	Flanking Active TSS	HepG2	liver
19	chr16:31415400-31416000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr16:31415400-31416000	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr16:31415400-31416000	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
22	chr16:31415400-31416000	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr16:31415400-31416200	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr16:31415400-31416200	Flanking Active TSS	K562	blood
25	chr16:31415400-31424400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr16:31415600-31415800	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr16:31415600-31416000	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr16:31415600-31416000	Enhancers	Fetal Muscle Trunk	muscle

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