Variant report

Variant	rs12675140
Chromosome Location	chr8:87718835-87718836
allele	A/G
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	BATF	chr8:87718793-87719078	GM12878	blood:	n/a	n/a
2	EP300	chr8:87718732-87719057	SK-N-SH_RA	brain:	n/a	chr8:87718990-87718999 chr8:87719030-87719044 chr8:87718989-87718998
3	FOS	chr8:87718739-87719180	HUVEC	blood vessel:	n/a	chr8:87718988-87718999 chr8:87718989-87718998 chr8:87718990-87718998 chr8:87718991-87718998 chr8:87718990-87718999
4	BHLHE40	chr8:87718453-87719024	GM12878	blood:	n/a	n/a
5	EBF1	chr8:87718510-87718890	GM12878	blood:	n/a	n/a
6	IKZF1	chr8:87718636-87719013	GM12878	blood:	n/a	n/a
7	MEF2A	chr8:87718349-87718854	GM12878	blood:	n/a	chr8:87718562-87718570 chr8:87718613-87718628 chr8:87718614-87718629 chr8:87718614-87718629
8	SPI1	chr8:87718304-87719076	GM12878	blood:	n/a	chr8:87719032-87719039 chr8:87718560-87718569

Variant related genes	Relation type
ENSG00000254115	TF binding region

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10094222	0.80[CHB][hapmap];0.82[JPT][hapmap]
rs1009574	0.87[JPT][hapmap]
rs1031649	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10956948	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1219096	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.82[MKK][hapmap];1.00[YRI][hapmap];0.95[ASN][1000 genomes]
rs13252425	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13271040	0.80[TSI][hapmap]
rs13278423	0.89[CEU][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes]
rs1372170	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1379739	0.82[LWK][hapmap];0.84[YRI][hapmap]
rs1379742	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]
rs1441238	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.91[MEX][hapmap];0.86[MKK][hapmap];0.84[YRI][hapmap]
rs1458134	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1545221	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1596027	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.84[YRI][hapmap]
rs16916907	0.81[CEU][hapmap];0.81[GIH][hapmap];0.91[JPT][hapmap];0.82[EUR][1000 genomes]
rs1837743	0.82[CEU][hapmap]
rs2013536	0.87[JPT][hapmap]
rs2885471	0.86[JPT][hapmap]
rs2919754	1.00[ASN][1000 genomes]
rs2957792	0.90[CHB][hapmap];0.97[CHD][hapmap];0.91[JPT][hapmap];0.84[YRI][hapmap];1.00[ASN][1000 genomes]
rs315963	1.00[ASN][1000 genomes]
rs315964	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs315965	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs315972	0.85[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs315973	0.90[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs315976	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.82[MKK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs315977	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs3735967	0.85[CHB][hapmap];0.86[CHD][hapmap];0.87[JPT][hapmap]
rs4960985	0.86[JPT][hapmap]
rs4961211	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7002468	0.90[CHB][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs7002965	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7014125	0.91[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.86[MEX][hapmap];0.86[MKK][hapmap];0.81[TSI][hapmap];0.84[YRI][hapmap];0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7814749	0.91[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.91[MEX][hapmap];0.88[MKK][hapmap];0.81[TSI][hapmap];0.84[YRI][hapmap];0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7842410	0.83[JPT][hapmap]
rs971146	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs978134	0.89[CEU][hapmap];0.95[JPT][hapmap]
rs996077	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]

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	nsv1023510	chr8:87429001-87874948	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv891151	chr8:87690019-87776019	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1026794	chr8:87698639-87957840	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv539662	chr8:87698639-87957840	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87715800-87719200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr8:87716000-87721400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr8:87716000-87721600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:87717200-87719000	Enhancers	Fetal Stomach	stomach
5	chr8:87717400-87721200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr8:87717600-87721600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:87717800-87719000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr8:87718000-87720200	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr8:87718000-87721200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:87718000-87721600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr8:87718200-87719000	Enhancers	Adipose Nuclei	Adipose
12	chr8:87718200-87719200	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr8:87718400-87719000	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr8:87718400-87719000	Enhancers	Fetal Brain Female	brain
15	chr8:87718400-87719200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr8:87718400-87719800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr8:87718400-87720000	Enhancers	Muscle Satellite Cultured Cells	--
18	chr8:87718600-87719000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:87718600-87719000	Enhancers	Right Ventricle	heart
20	chr8:87718600-87719000	Flanking Active TSS	GM12878-XiMat	blood
21	chr8:87718600-87719000	Enhancers	Osteobl	bone
22	chr8:87718600-87719400	Enhancers	HUVEC	blood vessel
23	chr8:87718800-87719000	Enhancers	H9 Cell Line	embryonic stem cell
24	chr8:87718800-87719000	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr8:87718800-87719000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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