Variant report

Variant	rs74015021
Chromosome Location	chr16:30633967-30633968
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr16:30633813-30634340	K562	blood:	n/a	n/a
2	GATA2	chr16:30633895-30634263	K562	blood:	n/a	n/a
3	MAX	chr16:30633941-30634272	K562	blood:	n/a	n/a
4	TAL1	chr16:30633937-30634277	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:30631964..30634523-chr16:30638900..30640577,2	MCF-7	breast:
2	chr16:30405439..30407171-chr16:30633264..30634784,2	K562	blood:
3	chr16:30622536..30624274-chr16:30632028..30634418,2	K562	blood:

Variant related genes	Relation type
ENSG00000260113	TF binding region
ENSG00000180096	Chromatin interaction
ENSG00000180035	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs55764844	1.00[AMR][1000 genomes]
rs55794634	1.00[AMR][1000 genomes]
rs56371701	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59324423	1.00[AMR][1000 genomes]
rs59594717	1.00[AMR][1000 genomes]
rs59674151	1.00[AMR][1000 genomes]
rs60628262	1.00[AMR][1000 genomes]
rs60749749	1.00[AMR][1000 genomes]
rs60854012	1.00[AMR][1000 genomes]
rs74015013	1.00[AMR][1000 genomes]
rs74015027	1.00[AMR][1000 genomes]
rs74015028	1.00[AMR][1000 genomes]
rs74015042	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	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv905727	chr16:30564526-30689696	Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
4	nsv469724	chr16:30632445-30840263	Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
5	nsv482704	chr16:30632445-30840263	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
6	nsv833188	chr16:30632446-30840263	Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30631200-30634000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr16:30631400-30640000	Weak transcription	Fetal Brain Male	brain
3	chr16:30631800-30640000	Weak transcription	Fetal Intestine Large	intestine
4	chr16:30632000-30634400	Enhancers	Fetal Kidney	kidney
5	chr16:30632400-30636000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr16:30632600-30634000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr16:30632600-30634000	Enhancers	HMEC	breast
8	chr16:30632600-30634200	Enhancers	HSMM	muscle
9	chr16:30632600-30634600	Enhancers	Hela-S3	cervix
10	chr16:30632600-30636200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr16:30632800-30634000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr16:30632800-30634200	Enhancers	HSMMtube	muscle
13	chr16:30633000-30634200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr16:30633200-30635600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr16:30633400-30634200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr16:30633400-30635200	Enhancers	Liver	Liver
17	chr16:30633400-30636000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr16:30633600-30634000	Enhancers	HepG2	liver
19	chr16:30633600-30634600	Enhancers	Fetal Intestine Small	intestine
20	chr16:30633800-30634000	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr16:30633800-30634000	Weak transcription	NHEK	skin
22	chr16:30633800-30635000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr16:30633800-30636000	Enhancers	K562	blood

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