Variant report

Variant	rs73712623
Chromosome Location	chr8:130401384-130401385
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:130396550..130399217-chr8:130400172..130403294,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs16904033	1.00[AMR][1000 genomes]
rs16904045	1.00[AMR][1000 genomes]
rs55749850	1.00[AMR][1000 genomes]
rs56274919	1.00[AMR][1000 genomes]
rs61178004	1.00[AMR][1000 genomes]
rs73709696	1.00[AMR][1000 genomes]
rs73709703	1.00[AMR][1000 genomes]
rs73709747	1.00[AMR][1000 genomes]
rs73712622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73712630	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73712632	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73712633	1.00[AMR][1000 genomes]
rs73712635	1.00[AMR][1000 genomes]
rs73712723	1.00[AMR][1000 genomes]
rs73712724	1.00[AMR][1000 genomes]
rs73712725	1.00[AMR][1000 genomes]
rs73712726	1.00[AMR][1000 genomes]
rs73712727	1.00[AMR][1000 genomes]
rs73712729	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429942	chr8:130397818-130460011	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130394800-130411800	Strong transcription	K562	blood
2	chr8:130400600-130401400	Enhancers	Fetal Muscle Trunk	muscle
3	chr8:130400600-130401400	Enhancers	Right Atrium	heart
4	chr8:130400600-130401600	Enhancers	Fetal Muscle Leg	muscle
5	chr8:130400600-130401600	Enhancers	Thymus	Thymus
6	chr8:130400600-130402000	Enhancers	Brain Hippocampus Middle	brain
7	chr8:130400600-130403200	Enhancers	Brain Germinal Matrix	brain
8	chr8:130400800-130401600	Enhancers	Fetal Thymus	thymus
9	chr8:130400800-130402400	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr8:130400800-130402400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr8:130401000-130401400	Enhancers	Brain Cingulate Gyrus	brain
12	chr8:130401000-130401400	Enhancers	Fetal Stomach	stomach
13	chr8:130401000-130401400	Enhancers	Left Ventricle	heart
14	chr8:130401000-130401600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr8:130401000-130401600	Enhancers	Adipose Nuclei	Adipose
16	chr8:130401000-130401600	Enhancers	Brain Angular Gyrus	brain
17	chr8:130401000-130401600	Enhancers	Brain Anterior Caudate	brain
18	chr8:130401000-130401600	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr8:130401000-130401600	Bivalent Enhancer	Brain Substantia Nigra	brain
20	chr8:130401000-130401600	Enhancers	Colon Smooth Muscle	Colon
21	chr8:130401000-130401800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr8:130401000-130401800	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr8:130401000-130402000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr8:130401200-130401400	Genic enhancers	Dnd41	blood
25	chr8:130401200-130401800	Enhancers	Monocytes-CD14+_RO01746	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links