Variant report

Variant	rs73078520
Chromosome Location	chr1:212376243-212376244
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	chr1:212360558..212362622-chr1:212375645..212378227,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11800208	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11801902	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs11803526	1.00[EUR][1000 genomes]
rs17018697	1.00[EUR][1000 genomes]
rs17018717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17018767	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17018784	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17018792	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1873299	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1908141	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4369290	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55764484	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56410034	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57461449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58031667	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58388470	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59665922	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59988047	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61331273	1.00[EUR][1000 genomes]
rs6676652	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6687793	1.00[EUR][1000 genomes]
rs6701982	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73078491	1.00[EUR][1000 genomes]
rs73078499	1.00[EUR][1000 genomes]
rs73078504	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73078526	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73078531	1.00[EUR][1000 genomes]
rs73078536	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73080522	0.81[AMR][1000 genomes]
rs74138110	1.00[AMR][1000 genomes]
rs7515005	1.00[EUR][1000 genomes]
rs7530958	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7533954	1.00[EUR][1000 genomes]
rs7534621	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7536393	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7536704	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7537172	1.00[EUR][1000 genomes]
rs7538315	1.00[EUR][1000 genomes]
rs884208	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212368800-212391000	Weak transcription	Thymus	Thymus
2	chr1:212375200-212376400	Enhancers	Stomach Mucosa	stomach
3	chr1:212375200-212379600	Enhancers	Placenta	Placenta
4	chr1:212375800-212376400	Enhancers	A549	lung
5	chr1:212375800-212376800	Enhancers	HepG2	liver
6	chr1:212375800-212376800	Enhancers	K562	blood
7	chr1:212376000-212376400	Enhancers	Fetal Thymus	thymus
8	chr1:212376000-212376400	Enhancers	Left Ventricle	heart
9	chr1:212376000-212376400	Enhancers	Right Atrium	heart
10	chr1:212376000-212376800	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr1:212376000-212377000	Enhancers	Lung	lung
12	chr1:212376000-212377200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:212376000-212382400	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr1:212376200-212377000	Weak transcription	Fetal Lung	lung
15	chr1:212376200-212378000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr1:212376200-212380000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr1:212376200-212380600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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