Variant report

Variant	rs7001729
Chromosome Location	chr8:130209792-130209793
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11775284	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11785372	0.81[ASN][1000 genomes]
rs11786094	0.84[ASN][1000 genomes]
rs11993499	0.84[ASN][1000 genomes]
rs11993548	0.84[ASN][1000 genomes]
rs12155839	0.89[EUR][1000 genomes]
rs12679073	0.81[ASN][1000 genomes]
rs13280541	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13280665	0.87[ASN][1000 genomes]
rs13282710	0.87[ASN][1000 genomes]
rs34135744	0.87[ASN][1000 genomes]
rs34259154	0.87[ASN][1000 genomes]
rs34328462	0.87[ASN][1000 genomes]
rs34398151	0.87[ASN][1000 genomes]
rs34574758	0.87[ASN][1000 genomes]
rs34744355	0.87[ASN][1000 genomes]
rs35043542	0.87[ASN][1000 genomes]
rs35168381	0.87[ASN][1000 genomes]
rs4370497	0.91[ASN][1000 genomes]
rs4377927	0.84[ASN][1000 genomes]
rs4463383	0.87[ASN][1000 genomes]
rs4476975	0.83[ASN][1000 genomes]
rs4531013	0.82[ASN][1000 genomes]
rs4585711	0.87[ASN][1000 genomes]
rs4613964	0.87[ASN][1000 genomes]
rs4637785	0.84[ASN][1000 genomes]
rs5003702	0.81[ASN][1000 genomes]
rs5003703	0.81[ASN][1000 genomes]
rs6986688	0.87[ASN][1000 genomes]
rs6998274	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7013028	0.84[ASN][1000 genomes]
rs72609879	0.85[ASN][1000 genomes]
rs7814298	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7816117	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7819161	0.87[ASN][1000 genomes]
rs7819443	0.87[ASN][1000 genomes]
rs7822833	0.87[ASN][1000 genomes]
rs7837664	0.87[ASN][1000 genomes]
rs9650102	0.85[ASN][1000 genomes]
rs9772218	0.83[EUR][1000 genomes];0.86[ASN][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	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
2	nsv891445	chr8:130152109-130224721	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv831460	chr8:130185680-130366217	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130205400-130214600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:130206400-130211400	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr8:130208200-130241600	Weak transcription	Thymus	Thymus
4	chr8:130208600-130210000	Weak transcription	Dnd41	blood
5	chr8:130208600-130213200	Weak transcription	Fetal Thymus	thymus
6	chr8:130209200-130210000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr8:130209400-130213600	Weak transcription	Fetal Muscle Leg	muscle
8	chr8:130209600-130214600	Weak transcription	Fetal Stomach	stomach

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