Variant report

Variant	rs56199980
Chromosome Location	chr7:16451699-16451700
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:16447322..16450777-chr7:16450983..16453871,4	K562	blood:
2	chr7:16451524..16456332-chr7:16459501..16462581,7	MCF-7	breast:
3	chr7:16451377..16453700-chr7:16455359..16457041,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000214960	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10464288	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17617508	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17674339	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1921843	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1921845	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2389632	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2389633	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2389638	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55746209	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55790136	0.94[ASN][1000 genomes]
rs55944246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56061198	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56176134	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59379368	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60255112	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6461247	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67088819	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs67609961	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73071078	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7791775	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][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	nsv1016642	chr7:15884061-16799788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv2759514	chr7:16236162-16527390	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv2758105	chr7:16272822-16527390	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	esv2757215	chr7:16346139-16458474	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv1031019	chr7:16377519-16458474	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv1034151	chr7:16415497-16578081	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16434400-16459000	Weak transcription	Stomach Mucosa	stomach
2	chr7:16440200-16452600	Weak transcription	Pancreas	Pancrea
3	chr7:16440400-16452400	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr7:16440400-16452600	Weak transcription	Gastric	stomach
5	chr7:16440400-16459600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:16443400-16451800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr7:16443400-16452400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr7:16443600-16456400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr7:16450000-16459600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr7:16450200-16453000	Enhancers	NHDF-Ad	bronchial
11	chr7:16450600-16452200	Weak transcription	Fetal Muscle Leg	muscle
12	chr7:16450600-16459800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr7:16450800-16451800	Weak transcription	Fetal Lung	lung
14	chr7:16450800-16452400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr7:16450800-16453200	Enhancers	Muscle Satellite Cultured Cells	--
16	chr7:16451000-16452200	Weak transcription	Fetal Stomach	stomach
17	chr7:16451000-16452400	Weak transcription	K562	blood
18	chr7:16451000-16452600	Weak transcription	Left Ventricle	heart
19	chr7:16451400-16456200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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