Variant report

Variant	rs1380140
Chromosome Location	chr8:113893856-113893857
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs1026488	0.81[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1026489	0.81[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11787239	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs11986076	0.87[ASN][1000 genomes]
rs13256271	0.84[ASN][1000 genomes]
rs13256724	1.00[JPT][hapmap]
rs13259225	1.00[JPT][hapmap]
rs13259298	0.87[ASN][1000 genomes]
rs13261301	1.00[JPT][hapmap]
rs13264919	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs13266975	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs13267779	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs13272429	1.00[JPT][hapmap]
rs13275178	1.00[JPT][hapmap]
rs13275398	0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs13276278	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1350566	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs1350567	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs1380134	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs1380136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1380139	0.98[ASN][1000 genomes]
rs1380141	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1458994	1.00[JPT][hapmap]
rs1458999	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1459000	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs1459006	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1459007	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs16884158	0.80[YRI][hapmap]
rs170760	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs1813415	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1947633	0.81[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1979305	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs1993607	0.86[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2045540	0.98[ASN][1000 genomes]
rs2125552	0.81[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs2125553	0.81[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2194601	1.00[JPT][hapmap]
rs2216891	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2219486	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs231278	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs231280	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs231282	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs231283	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs231284	0.84[ASN][1000 genomes]
rs231287	0.84[ASN][1000 genomes]
rs231288	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs231301	0.89[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs231302	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs231305	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs231306	0.81[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs231312	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs231313	0.85[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs231314	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs231315	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs231317	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs231320	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs231321	0.87[ASN][1000 genomes]
rs231322	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs231323	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs2446469	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2511523	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2511524	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2511527	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs2511529	0.86[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2511530	0.86[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2511535	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28830583	0.87[ASN][1000 genomes]
rs370168	1.00[CHB][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs373880	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs3950980	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4028265	0.98[ASN][1000 genomes]
rs4876298	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4876499	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4876501	0.85[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7009209	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs7013313	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7818598	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs958815	0.86[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2753595	chr8:113283214-114190390	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv534270	chr8:113585830-113979075	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
3	esv2754315	chr8:113736824-114048824	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv891326	chr8:113777669-114091732	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv891327	chr8:113828980-114109342	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:113891400-113894000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:113891800-113894600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr8:113892200-113896600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:113892600-113894800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr8:113892800-113897000	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr8:113892800-113897200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr8:113893000-113894400	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr8:113893000-113896800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr8:113893400-113896600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr8:113893600-113894400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr8:113893800-113895000	Enhancers	HUES6 Cell Line	embryonic stem cell

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