Variant report

Variant	rs74030453
Chromosome Location	chr16:80836842-80836843
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:80836267..80838116-chr16:81067816..81069508,2	MCF-7	breast:
2	chr16:80744840..80746889-chr16:80835828..80837978,2	MCF-7	breast:
3	chr16:80573487..80575142-chr16:80836688..80838672,2	MCF-7	breast:
4	chr16:80742029..80744707-chr16:80834367..80837032,2	MCF-7	breast:
5	chr16:80653224..80655610-chr16:80835327..80837663,2	MCF-7	breast:
6	chr16:80745711..80747675-chr16:80834808..80837555,2	MCF-7	breast:
7	chr16:80836730..80839628-chr16:80867393..80871297,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166454	Chromatin interaction
ENSG00000260896	Chromatin interaction
ENSG00000259867	Chromatin interaction
ENSG00000260213	Chromatin interaction
ENSG00000168589	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16954126	0.83[AMR][1000 genomes]
rs16954130	0.83[AMR][1000 genomes]
rs61153381	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7193908	1.00[AMR][1000 genomes]
rs7197605	1.00[AMR][1000 genomes]
rs7197817	0.83[AMR][1000 genomes]
rs74030449	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs74030451	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74030452	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74030459	0.83[AMR][1000 genomes]
rs74030476	0.83[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	nsv1060621	chr16:80532848-80980616	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv542989	chr16:80532848-80980616	Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	esv3451298	chr16:80696935-80997389	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	esv3350075	chr16:80696955-80997359	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv542990	chr16:80729797-80918198	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv833301	chr16:80732170-80928751	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv457560	chr16:80825206-80858143	Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
8	nsv573302	chr16:80825206-80858143	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
9	esv3376994	chr16:80836476-80839824	Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80822600-80837200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr16:80827800-80837000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr16:80832400-80838800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr16:80836000-80837200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr16:80836400-80837000	Transcr. at gene 5' and 3'	Hela-S3	cervix
6	chr16:80836400-80837200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr16:80836400-80837200	Enhancers	Gastric	stomach
8	chr16:80836400-80837600	Enhancers	Esophagus	oesophagus
9	chr16:80836400-80838200	Active TSS	Brain Angular Gyrus	brain
10	chr16:80836600-80837000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr16:80836600-80837000	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr16:80836600-80837000	Enhancers	Placenta	Placenta
13	chr16:80836600-80837200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr16:80836600-80837400	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr16:80836600-80837400	Flanking Active TSS	HUVEC	blood vessel
16	chr16:80836600-80839000	Active TSS	HSMM	muscle
17	chr16:80836800-80837000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
18	chr16:80836800-80837000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr16:80836800-80837000	Enhancers	Primary T cells fromperipheralblood	blood
20	chr16:80836800-80837000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr16:80836800-80837000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr16:80836800-80837000	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr16:80836800-80837200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr16:80836800-80837200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr16:80836800-80837200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
26	chr16:80836800-80837200	Weak transcription	Fetal Intestine Small	intestine
27	chr16:80836800-80837200	Enhancers	Pancreas	Pancrea
28	chr16:80836800-80837200	Enhancers	Small Intestine	intestine
29	chr16:80836800-80837400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr16:80836800-80838600	Active TSS	Primary hematopoietic stem cells	blood
31	chr16:80836800-80838600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr16:80836800-80838800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
33	chr16:80836800-80838800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr16:80836800-80838800	Active TSS	NH-A	brain
35	chr16:80836800-80838800	Active TSS	NHEK	skin
36	chr16:80836800-80839000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr16:80836800-80839000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle

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