Variant report

Variant	rs60982288
Chromosome Location	chr7:50653494-50653495
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:50650775..50655570-chr7:50656344..50660954,5	K562	blood:
2	chr7:50651220..50655570-chr7:50655911..50660457,6	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17133889	1.00[AFR][1000 genomes]
rs59812849	0.89[AFR][1000 genomes]
rs60933571	0.94[AFR][1000 genomes]
rs61412038	1.00[AFR][1000 genomes]
rs73342865	1.00[AFR][1000 genomes]
rs73342867	1.00[AFR][1000 genomes]
rs73342870	1.00[AFR][1000 genomes]
rs73342880	0.95[AFR][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	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1015758	chr7:50565404-50768153	Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1023228	chr7:50573214-50777634	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1032882	chr7:50611138-50775257	Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv538834	chr7:50611138-50775257	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv1031138	chr7:50651793-50814881	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50650800-50659600	Weak transcription	Ovary	ovary
2	chr7:50651600-50653600	ZNF genes & repeats	Placenta	Placenta
3	chr7:50652000-50653600	Enhancers	HMEC	breast
4	chr7:50652000-50671800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr7:50652200-50657800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:50652400-50687400	Weak transcription	Right Atrium	heart
7	chr7:50652600-50653600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr7:50652600-50655400	Weak transcription	Thymus	Thymus
9	chr7:50652600-50658600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr7:50652800-50653600	Weak transcription	Pancreas	Pancrea
11	chr7:50652800-50658400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr7:50652800-50660400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr7:50653000-50655800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr7:50653000-50658800	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr7:50653000-50659800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:50653000-50660000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr7:50653200-50672400	Weak transcription	NHEK	skin
18	chr7:50653400-50656800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr7:50653400-50659800	Weak transcription	Fetal Lung	lung
20	chr7:50653400-50670600	Weak transcription	Rectal Smooth Muscle	rectum

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