Variant report

Variant	rs7826291
Chromosome Location	chr8:124941809-124941810
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr8:124941697-124941836	K562	blood:	n/a	n/a
2	SPI1	chr8:124941552-124941983	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:124940520..124943844-chr8:124961774..124964853,3	MCF-7	breast:
2	chr8:124941483..124942084-chr8:125018247..125019468,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254000	TF binding region

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs1007106	0.91[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs11993828	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13250190	0.92[CHB][hapmap];0.87[JPT][hapmap];0.90[ASN][1000 genomes]
rs13252473	0.87[CEU][hapmap]
rs13259104	0.84[CEU][hapmap]
rs13260673	0.90[ASN][1000 genomes]
rs13267281	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13268486	0.92[CHB][hapmap];0.87[JPT][hapmap];0.90[ASN][1000 genomes]
rs13268977	0.91[CHB][hapmap];0.87[JPT][hapmap]
rs13277597	0.96[CEU][hapmap]
rs13280610	0.88[CEU][hapmap]
rs16893054	0.81[CEU][hapmap]
rs16899008	0.84[CEU][hapmap]
rs16899027	0.92[CEU][hapmap]
rs16899029	0.92[CEU][hapmap]
rs16899052	0.90[ASN][1000 genomes]
rs16899082	0.90[ASN][1000 genomes]
rs16899083	0.90[ASN][1000 genomes]
rs16899115	0.83[CEU][hapmap]
rs34273310	0.90[ASN][1000 genomes]
rs35365805	0.89[ASN][1000 genomes]
rs35856179	0.90[ASN][1000 genomes]
rs36044469	0.89[ASN][1000 genomes]
rs4242350	0.89[ASN][1000 genomes]
rs4242351	0.92[CHB][hapmap];0.87[JPT][hapmap];0.89[ASN][1000 genomes]
rs4242352	0.83[CEU][hapmap]
rs4285467	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4285468	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4299983	0.92[CHB][hapmap];0.87[JPT][hapmap];0.90[ASN][1000 genomes]
rs4299984	0.90[ASN][1000 genomes]
rs4355755	0.81[CEU][hapmap];0.81[JPT][hapmap]
rs4410887	0.90[ASN][1000 genomes]
rs4413758	0.92[CHB][hapmap];0.87[JPT][hapmap];0.89[ASN][1000 genomes]
rs4428656	0.85[ASN][1000 genomes]
rs4472497	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4478556	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4492357	0.92[CHB][hapmap];0.87[JPT][hapmap];0.89[ASN][1000 genomes]
rs4509302	0.92[CEU][hapmap]
rs4512365	0.90[ASN][1000 genomes]
rs4537289	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4587311	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4587312	0.89[ASN][1000 genomes]
rs4590427	0.90[ASN][1000 genomes]
rs4870875	0.92[CEU][hapmap]
rs4870878	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4870879	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4870881	0.84[CEU][hapmap]
rs4871417	0.92[CEU][hapmap]
rs4871421	0.92[CEU][hapmap]
rs4871422	0.92[CEU][hapmap]
rs4871428	0.91[CHB][hapmap];0.87[JPT][hapmap];0.89[ASN][1000 genomes]
rs4871429	0.91[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs4871430	0.91[CHB][hapmap];0.87[JPT][hapmap];0.89[ASN][1000 genomes]
rs4871431	0.92[CHB][hapmap];0.87[JPT][hapmap];0.90[ASN][1000 genomes]
rs4871432	0.91[CHB][hapmap];0.85[JPT][hapmap];0.90[ASN][1000 genomes]
rs4871433	0.91[CHB][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs4871434	0.92[CHB][hapmap];0.87[JPT][hapmap];0.90[ASN][1000 genomes]
rs4871435	0.91[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs4871436	0.91[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs4871437	0.91[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs4871439	0.92[CHB][hapmap];0.87[JPT][hapmap];0.90[ASN][1000 genomes]
rs4871443	0.83[CEU][hapmap]
rs4871444	0.84[CEU][hapmap]
rs4871448	0.83[CEU][hapmap]
rs55653196	0.90[ASN][1000 genomes]
rs55921480	0.85[AFR][1000 genomes]
rs57615673	0.88[ASN][1000 genomes]
rs59381180	0.89[ASN][1000 genomes]
rs62518695	0.90[ASN][1000 genomes]
rs62518696	0.90[ASN][1000 genomes]
rs62518727	0.90[ASN][1000 genomes]
rs62518728	0.90[ASN][1000 genomes]
rs6982351	0.90[ASN][1000 genomes]
rs6984557	0.91[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs72709124	0.84[ASN][1000 genomes]
rs7464664	0.92[CHB][hapmap];0.87[JPT][hapmap];0.89[ASN][1000 genomes]
rs746745	0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs746746	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs746747	1.00[CEU][hapmap];0.81[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7821233	0.81[CEU][hapmap]
rs7838437	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7838453	0.91[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs7838473	0.92[CHB][hapmap];0.87[JPT][hapmap];0.90[ASN][1000 genomes]
rs7839327	0.92[CHB][hapmap];0.87[JPT][hapmap];0.90[ASN][1000 genomes]
rs7842762	0.91[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033617	chr8:124895516-125012783	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1035035	chr8:124895516-125020472	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv612141	chr8:124895809-125006490	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv612142	chr8:124896389-125006490	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv612143	chr8:124927711-124988267	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv972224	chr8:124938289-124945547	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1020971	chr8:124939571-124973679	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124935400-124942800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr8:124940600-124944000	Enhancers	Stomach Mucosa	stomach
3	chr8:124941400-124942600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:124941600-124943600	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr8:124941600-124945600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr8:124941800-124943800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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