Variant report

Variant	rs6995255
Chromosome Location	chr8:130640232-130640233
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:130632699..130634213-chr8:130638676..130640504,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs16904131	1.00[MKK][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16904132	1.00[MKK][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16904137	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55749850	1.00[AMR][1000 genomes]
rs6998849	1.00[AMR][1000 genomes]
rs7001527	1.00[AMR][1000 genomes]
rs7013707	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7017100	1.00[AMR][1000 genomes]
rs73709747	1.00[AMR][1000 genomes]
rs7828399	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7846460	0.84[AFR][1000 genomes];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	nsv612230	chr8:130624121-130661901	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130636800-130651600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr8:130638200-130647600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:130638600-130642800	Enhancers	NHEK	skin
4	chr8:130638800-130642800	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr8:130639400-130640400	Enhancers	K562	blood
6	chr8:130639400-130641400	Enhancers	Brain Germinal Matrix	brain
7	chr8:130639600-130640400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr8:130639600-130642600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr8:130639600-130642600	Enhancers	HMEC	breast
10	chr8:130639800-130640400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr8:130639800-130640400	Enhancers	Brain Anterior Caudate	brain
12	chr8:130639800-130640400	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr8:130639800-130640600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:130639800-130640600	Flanking Active TSS	Brain Cingulate Gyrus	brain
15	chr8:130639800-130641800	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr8:130639800-130642800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:130640200-130640400	Flanking Active TSS	Brain Angular Gyrus	brain
18	chr8:130640200-130640400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr8:130640200-130640600	Flanking Active TSS	Brain Substantia Nigra	brain
20	chr8:130640200-130641000	Flanking Active TSS	Brain Hippocampus Middle	brain
21	chr8:130640200-130651600	Weak transcription	Fetal Muscle Leg	muscle

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