Variant report

Variant	rs72800097
Chromosome Location	chr16:77322055-77322056
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:77320544..77323017-chr16:77325949..77328291,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1000686	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12448944	1.00[AMR][1000 genomes]
rs67411170	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs67442855	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs67695631	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67809048	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72798517	1.00[AMR][1000 genomes]
rs72800062	1.00[EUR][1000 genomes]
rs72800073	0.84[EUR][1000 genomes]
rs72800079	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055234	chr16:77003426-77467286	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv1065048	chr16:77003426-77675163	Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
3	esv2830376	chr16:77014551-77658185	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	nsv1065149	chr16:77032082-77671890	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv1062349	chr16:77039764-77458731	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv542967	chr16:77039764-77458731	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	nsv1056676	chr16:77139682-77854848	Strong transcription Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
8	nsv1066258	chr16:77229953-77521919	Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv542968	chr16:77229953-77521919	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	esv2761916	chr16:77277005-77555833	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv1059194	chr16:77281068-77745928	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
12	nsv542969	chr16:77281068-77745928	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	nsv934211	chr16:77281069-77396084	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv1065714	chr16:77285659-77385518	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:77311600-77344200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr16:77312000-77336600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr16:77316000-77323200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr16:77317000-77329200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr16:77318800-77332400	Weak transcription	Ovary	ovary
6	chr16:77319800-77328800	Weak transcription	Brain Angular Gyrus	brain
7	chr16:77320800-77336200	Weak transcription	Brain Substantia Nigra	brain
8	chr16:77321000-77323400	Weak transcription	Adipose Nuclei	Adipose
9	chr16:77321000-77325000	Enhancers	HUVEC	blood vessel
10	chr16:77321200-77325000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr16:77321400-77322400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr16:77321400-77325400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr16:77321400-77325600	Enhancers	NHDF-Ad	bronchial
14	chr16:77321600-77323600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr16:77321600-77324000	Enhancers	HMEC	breast
16	chr16:77321600-77325200	Enhancers	Muscle Satellite Cultured Cells	--
17	chr16:77321800-77322200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr16:77321800-77323600	Enhancers	Hela-S3	cervix
19	chr16:77321800-77323800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr16:77321800-77324800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr16:77321800-77324800	Enhancers	NH-A	brain
22	chr16:77321800-77325200	Enhancers	Osteobl	bone
23	chr16:77321800-77325400	Enhancers	HSMM	muscle
24	chr16:77322000-77322200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr16:77322000-77322200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr16:77322000-77323000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr16:77322000-77323400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr16:77322000-77324000	Flanking Active TSS	A549	lung
29	chr16:77322000-77324600	Enhancers	NHLF	lung
30	chr16:77322000-77325000	Enhancers	HSMMtube	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links