Variant report

Variant	rs7388554
Chromosome Location	chr8:9402662-9402663
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	chr8:9392167..9395438-chr8:9400289..9403497,3	K562	blood:
2	chr8:9395625..9398112-chr8:9401511..9403684,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10090598	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10094314	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11774818	0.83[JPT][hapmap]
rs11776199	0.86[AMR][1000 genomes]
rs11780046	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11780757	0.81[AMR][1000 genomes]
rs11781665	0.92[EUR][1000 genomes]
rs11785485	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11994018	0.83[AMR][1000 genomes]
rs13250838	0.83[AMR][1000 genomes]
rs13261395	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13261660	0.83[ASN][1000 genomes]
rs13265363	0.86[CEU][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes]
rs13275867	0.81[AMR][1000 genomes]
rs1393	0.83[JPT][hapmap];0.81[AMR][1000 genomes]
rs1471203	0.90[CEU][hapmap];0.89[JPT][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17150206	0.86[ASN][1000 genomes]
rs28696132	0.90[AMR][1000 genomes]
rs28711551	0.84[AMR][1000 genomes]
rs34319155	0.81[AMR][1000 genomes]
rs34374861	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34622193	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34973657	0.83[AMR][1000 genomes]
rs35075657	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35200157	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35361105	0.87[AMR][1000 genomes]
rs35565635	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35617039	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4128324	0.83[JPT][hapmap];0.86[AMR][1000 genomes]
rs4535743	0.82[JPT][hapmap]
rs4570159	0.84[AMR][1000 genomes]
rs4840423	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4840424	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4840432	0.81[JPT][hapmap]
rs4841169	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4841171	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4841172	0.81[AMR][1000 genomes]
rs4841186	0.83[JPT][hapmap]
rs55797444	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6601328	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7009486	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7839648	0.83[JPT][hapmap]
rs9650636	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv497927	chr8:9097611-9544519	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1030524	chr8:9183482-9412833	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1033031	chr8:9310266-9418941	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9390000-9409800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:9401600-9404000	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr8:9401800-9403800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:9402000-9404600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr8:9402200-9404600	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr8:9402400-9404000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr8:9402400-9404200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr8:9402600-9402800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:9402600-9403400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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