Variant report

Variant	rs7816117
Chromosome Location	chr8:130205549-130205550
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:130141276..130144083-chr8:130203489..130205820,2	K562	blood:
2	chr8:130203532..130206316-chr8:130213311..130214939,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10956466	0.84[AFR][1000 genomes]
rs11774600	0.90[AMR][1000 genomes]
rs11775284	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11786094	0.82[ASN][1000 genomes]
rs11993499	0.82[ASN][1000 genomes]
rs11993548	0.82[ASN][1000 genomes]
rs12155839	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12679073	0.80[ASN][1000 genomes]
rs13280541	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13280665	0.85[ASN][1000 genomes]
rs13282710	0.85[ASN][1000 genomes]
rs34135744	0.85[ASN][1000 genomes]
rs34259154	0.85[ASN][1000 genomes]
rs34328462	0.85[ASN][1000 genomes]
rs34398151	0.85[ASN][1000 genomes]
rs34574758	0.85[ASN][1000 genomes]
rs34744355	0.85[ASN][1000 genomes]
rs35043542	0.85[ASN][1000 genomes]
rs35168381	0.85[ASN][1000 genomes]
rs4344040	0.81[AFR][1000 genomes]
rs4370497	0.89[ASN][1000 genomes]
rs4377927	0.82[ASN][1000 genomes]
rs4463383	0.85[ASN][1000 genomes]
rs4476975	0.81[ASN][1000 genomes]
rs4531013	0.81[ASN][1000 genomes]
rs4585711	0.85[ASN][1000 genomes]
rs4604396	0.84[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs4613964	0.85[ASN][1000 genomes]
rs4637785	0.82[ASN][1000 genomes]
rs6986688	0.85[ASN][1000 genomes]
rs6998274	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7001729	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7013028	0.83[ASN][1000 genomes]
rs72609879	0.84[ASN][1000 genomes]
rs7814298	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7819161	0.85[ASN][1000 genomes]
rs7819443	0.85[ASN][1000 genomes]
rs7822833	0.85[ASN][1000 genomes]
rs7837664	0.85[ASN][1000 genomes]
rs8180979	0.84[AFR][1000 genomes]
rs9650102	0.84[ASN][1000 genomes]
rs9772218	0.85[EUR][1000 genomes];0.87[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	chr8:130195600-130207600	Weak transcription	Fetal Thymus	thymus
2	chr8:130195800-130208000	Weak transcription	Thymus	Thymus
3	chr8:130196800-130208600	Genic enhancers	Dnd41	blood
4	chr8:130205000-130205600	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr8:130205200-130205800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:130205200-130205800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr8:130205400-130205600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr8:130205400-130214600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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