Variant report

Variant	rs74015528
Chromosome Location	chr16:31447694-31447695
allele	G/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:3)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr16:31446244..31448443-chr16:31453017..31454688,2	K562	blood:
2	chr16:31446244..31450994-chr16:31452849..31455131,6	K562	blood:
3	chr16:31440504..31442239-chr16:31445469..31447783,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ITGAD-1	chr16:31447656-31448114	NONHSAT141901
2	lnc-ITGAD-1	chr16:31447656-31448555	NONHSAT141902
3	lnc-ITGAD-1	chr16:31447449-31448114	NONHSAT141903

No data

Variant related genes	Relation type
ENSG00000176723	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11863224	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13332937	1.00[EUR][1000 genomes]
rs13333019	1.00[EUR][1000 genomes]
rs13337777	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2230427	1.00[EUR][1000 genomes]
rs28475579	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28638273	1.00[EUR][1000 genomes]
rs28735967	1.00[EUR][1000 genomes]
rs56032105	1.00[EUR][1000 genomes]
rs58260800	1.00[EUR][1000 genomes]
rs58585879	1.00[EUR][1000 genomes]
rs59137066	1.00[EUR][1000 genomes]
rs59843953	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7184740	1.00[EUR][1000 genomes]
rs7192438	1.00[EUR][1000 genomes]
rs7194219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7197892	1.00[EUR][1000 genomes]
rs74015530	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74015540	1.00[EUR][1000 genomes]
rs8048009	0.93[AFR][1000 genomes]
rs8052027	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9925472	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9932709	1.00[EUR][1000 genomes]
rs9939859	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	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
6	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
7	nsv905748	chr16:31427678-31559220	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	94 gene(s)	inside rSNPs	diseases
8	nsv905749	chr16:31427678-31565597	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	96 gene(s)	inside rSNPs	diseases
9	nsv905750	chr16:31427678-31587662	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	98 gene(s)	inside rSNPs	diseases
10	nsv905751	chr16:31431360-31489033	Bivalent Enhancer Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	82 gene(s)	inside rSNPs	diseases
11	nsv905752	chr16:31436932-31565597	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	95 gene(s)	inside rSNPs	diseases
12	nsv905753	chr16:31436932-31587662	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	97 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	chr16:31439600-31453200	Weak transcription	Lung	lung
2	chr16:31439600-31453800	Weak transcription	Gastric	stomach
3	chr16:31439600-31454000	Weak transcription	Aorta	Aorta
4	chr16:31439800-31451600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr16:31439800-31453200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr16:31439800-31453400	Weak transcription	Fetal Brain Female	brain
7	chr16:31440400-31453200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr16:31440600-31451800	Weak transcription	Brain Hippocampus Middle	brain
9	chr16:31440600-31453200	Weak transcription	Liver	Liver
10	chr16:31441000-31453200	Weak transcription	Brain Anterior Caudate	brain
11	chr16:31442200-31453800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr16:31445400-31453400	Weak transcription	Left Ventricle	heart
13	chr16:31445400-31453400	Weak transcription	Psoas Muscle	Psoas
14	chr16:31445600-31449800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr16:31445600-31452400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr16:31446600-31447800	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr16:31446600-31448400	Strong transcription	Fetal Intestine Small	intestine
18	chr16:31446800-31447800	Strong transcription	Fetal Intestine Large	intestine
19	chr16:31446800-31448000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr16:31446800-31448000	Strong transcription	Ovary	ovary
21	chr16:31446800-31448200	Strong transcription	Fetal Stomach	stomach
22	chr16:31447000-31448200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr16:31447400-31448200	Strong transcription	Skeletal Muscle Male	skeletal muscle
24	chr16:31447400-31448400	Strong transcription	Right Ventricle	heart
25	chr16:31447600-31448200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr16:31447600-31448200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr16:31447600-31448200	Strong transcription	Pancreas	Pancrea
28	chr16:31447600-31448200	Strong transcription	Spleen	Spleen

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