Variant report

Variant	rs74024461
Chromosome Location	chr16:70837949-70837950
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr16:70837896-70838801	K562	blood:	n/a	n/a
2	POLR2A	chr16:70837373-70839166	IMR90	lung:	n/a	n/a
3	POLR2A	chr16:70837940-70839483	U87	brain:	n/a	n/a
4	POLR2A	chr16:70837948-70839455	U87	brain:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:70837606..70840340-chr16:70840352..70843516,3	K562	blood:
2	chr16:70825135..70827215-chr16:70837537..70839567,2	K562	blood:
3	chr16:70835151..70836653-chr16:70837410..70838920,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IL34-3	chr16:70835990-70838077	ENSG00000251103
2	lnc-VAC14-1	chr16:70835990-70838077	NONHSAT143450

No data

Variant related genes	Relation type
VAC14	TF binding region
ENSG00000262890	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs55925555	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57111803	0.90[AFR][1000 genomes]
rs57875748	0.86[AFR][1000 genomes]
rs61756217	1.00[AMR][1000 genomes]
rs7185507	0.84[AFR][1000 genomes]
rs7200463	0.86[AFR][1000 genomes]
rs74024453	1.00[AMR][1000 genomes]
rs74024454	1.00[AMR][1000 genomes]
rs74024455	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv517391	chr16:70666410-70840490	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv457517	chr16:70666722-70840490	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv572945	chr16:70666722-70840490	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv1061191	chr16:70754975-71201367	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
5	nsv1059478	chr16:70773597-71237055	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
6	esv2758429	chr16:70807122-71316983	Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
7	esv2758653	chr16:70807122-71316983	Weak transcription Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
8	nsv916160	chr16:70809280-71120138	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
9	esv2757641	chr16:70833949-71200049	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70835400-70838000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr16:70835400-70838000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr16:70835400-70838600	Weak transcription	HUVEC	blood vessel
4	chr16:70835600-70838000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr16:70835600-70842800	Weak transcription	Brain Anterior Caudate	brain
6	chr16:70835800-70839200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr16:70836000-70838000	Weak transcription	NH-A	brain
8	chr16:70836800-70838000	Enhancers	Muscle Satellite Cultured Cells	--
9	chr16:70837000-70838000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr16:70837000-70838000	Enhancers	Osteobl	bone
11	chr16:70837600-70838400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr16:70837600-70838400	ZNF genes & repeats	Hela-S3	cervix
13	chr16:70837600-70839200	Enhancers	Placenta	Placenta
14	chr16:70837600-70839600	Enhancers	HSMMtube	muscle
15	chr16:70837600-70840800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr16:70837600-70841000	Enhancers	HMEC	breast
17	chr16:70837800-70840400	Enhancers	NHLF	lung

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