Variant report

Variant	rs6991925
Chromosome Location	chr8:50829643-50829644
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10112818	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10216383	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10504093	0.88[JPT][hapmap]
rs1157932	0.89[JPT][hapmap]
rs12543434	0.82[CEU][hapmap];0.87[EUR][1000 genomes]
rs12549981	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12679386	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13252824	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13264385	0.89[JPT][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs13266009	0.82[CHB][hapmap];0.88[JPT][hapmap]
rs13271446	0.82[CEU][hapmap];0.87[EUR][1000 genomes]
rs1486258	0.88[JPT][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs1552380	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17676077	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2170953	0.88[JPT][hapmap];0.83[YRI][hapmap]
rs2385554	0.88[JPT][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2385696	0.89[JPT][hapmap]
rs2385697	0.89[JPT][hapmap];0.85[YRI][hapmap]
rs2449961	0.80[ASN][1000 genomes]
rs318851	0.88[JPT][hapmap]
rs318853	0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs36160411	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3812424	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3812426	0.89[JPT][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs4460388	0.89[JPT][hapmap];0.85[YRI][hapmap];0.80[AFR][1000 genomes]
rs4873120	0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs62503966	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6984738	0.81[AFR][1000 genomes]
rs7002909	0.81[AFR][1000 genomes]
rs923060	0.89[JPT][hapmap];0.85[YRI][hapmap];0.81[ASN][1000 genomes]
rs931293	0.82[JPT][hapmap]
rs9643689	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3353749	chr8:50530807-51139242	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv916392	chr8:50827638-51395140	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:50824600-50831600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:50824800-50830000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:50825000-50831800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr8:50826600-50830000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr8:50826800-50829800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr8:50826800-50830000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr8:50826800-50830000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr8:50827200-50829800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr8:50827200-50829800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr8:50828200-50829800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr8:50828200-50833800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr8:50828400-50830000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr8:50828600-50831200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr8:50828600-50836000	Weak transcription	Fetal Brain Female	brain
15	chr8:50828800-50834200	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr8:50829000-50829800	Weak transcription	Brain Germinal Matrix	brain
17	chr8:50829600-50830000	Enhancers	HUES48 Cell Line	embryonic stem cell

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