Variant report

Variant	rs11996876
Chromosome Location	chr8:130087172-130087173
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	chr8:130086112..130089044-chr8:130090593..130093042,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11774875	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11777036	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11990860	0.81[EUR][1000 genomes]
rs11997291	0.81[EUR][1000 genomes]
rs12334809	0.81[EUR][1000 genomes]
rs1372452	0.81[EUR][1000 genomes]
rs4354273	0.81[EUR][1000 genomes]
rs4443626	0.81[EUR][1000 genomes]
rs4493879	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55708957	0.80[AMR][1000 genomes]
rs55801260	0.83[EUR][1000 genomes]
rs55802114	0.87[EUR][1000 genomes]
rs55836025	0.83[EUR][1000 genomes]
rs55865674	0.81[EUR][1000 genomes]
rs55870212	0.80[AMR][1000 genomes]
rs55925307	0.81[EUR][1000 genomes]
rs56000240	0.81[EUR][1000 genomes]
rs56065964	0.83[EUR][1000 genomes]
rs56100663	0.88[EUR][1000 genomes]
rs56308035	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56396127	0.81[EUR][1000 genomes]
rs56853677	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57967261	0.81[EUR][1000 genomes]
rs62525664	0.81[EUR][1000 genomes]
rs62525667	0.81[EUR][1000 genomes]
rs62525668	0.81[EUR][1000 genomes]
rs62525669	0.81[EUR][1000 genomes]
rs62525670	0.80[EUR][1000 genomes]
rs62525671	0.81[EUR][1000 genomes]
rs62525713	0.81[EUR][1000 genomes]
rs62525715	0.81[EUR][1000 genomes]
rs62525716	0.81[EUR][1000 genomes]
rs62525721	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62525724	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62525744	0.87[EUR][1000 genomes]
rs62525745	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6470681	0.89[EUR][1000 genomes]
rs7014071	0.90[AFR][1000 genomes]
rs72728800	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72730206	0.80[AMR][1000 genomes]
rs72730212	0.80[EUR][1000 genomes]
rs7817443	0.81[EUR][1000 genomes]
rs7833975	0.81[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	nsv891442	chr8:130016499-130130604	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv891443	chr8:130016499-130220746	Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv891444	chr8:130024642-130130604	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130082000-130091400	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr8:130082800-130087200	Weak transcription	Ovary	ovary
3	chr8:130084000-130087200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:130084200-130087200	Weak transcription	Fetal Stomach	stomach
5	chr8:130084200-130087600	Weak transcription	Adipose Nuclei	Adipose
6	chr8:130085400-130089200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:130085600-130115200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:130085800-130089200	Weak transcription	HMEC	breast
9	chr8:130086200-130087200	Genic enhancers	Dnd41	blood
10	chr8:130087000-130087200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:130087000-130087200	Enhancers	Fetal Kidney	kidney
12	chr8:130087000-130087200	Enhancers	Fetal Lung	lung
13	chr8:130087000-130087400	Enhancers	Colon Smooth Muscle	Colon
14	chr8:130087000-130087400	Enhancers	Right Atrium	heart
15	chr8:130087000-130087800	Enhancers	Fetal Muscle Leg	muscle
16	chr8:130087000-130087800	Genic enhancers	Fetal Thymus	thymus
17	chr8:130087000-130088400	Enhancers	Thymus	Thymus

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