Variant report

Variant	rs57029033
Chromosome Location	chr8:86951547-86951548
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:86950422..86952782-chr8:86955614..86957820,2	K562	blood:
2	chr8:86864951..86867156-chr8:86950288..86952196,2	K562	blood:
3	chr8:86949231..86952070-chr8:86985178..86988129,3	K562	blood:
4	chr8:86853963..86856746-chr8:86949985..86952408,2	K562	blood:
5	chr8:86853963..86856698-chr8:86950908..86953530,2	K562	blood:

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs11985504	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11985607	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11987022	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11991581	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11994093	0.91[EUR][1000 genomes]
rs1426565	1.00[ASN][1000 genomes]
rs1426568	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1484659	0.82[EUR][1000 genomes]
rs16898212	0.86[EUR][1000 genomes]
rs16905281	0.82[EUR][1000 genomes]
rs16915346	0.91[EUR][1000 genomes]
rs1834635	0.91[EUR][1000 genomes]
rs1863578	0.82[EUR][1000 genomes]
rs1863581	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1946380	0.91[EUR][1000 genomes]
rs34800222	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56381325	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60144208	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62512071	0.91[EUR][1000 genomes]
rs62512074	0.91[EUR][1000 genomes]
rs62512075	0.82[EUR][1000 genomes]
rs62512076	0.82[EUR][1000 genomes]
rs62512078	0.91[EUR][1000 genomes]
rs62512080	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62512081	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62512082	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62512084	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62512085	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62512106	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62512107	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62512108	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62512109	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62512117	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62512118	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62512119	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62512120	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62512121	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62512122	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6468685	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6468687	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6468720	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6468758	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6468824	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6468869	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6471527	0.82[EUR][1000 genomes]
rs6986040	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6989129	0.82[EUR][1000 genomes]
rs6989561	0.82[EUR][1000 genomes]
rs6996652	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6998535	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6998623	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6999182	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7010788	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7016015	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs716978	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72684828	0.82[EUR][1000 genomes]
rs72684833	0.82[EUR][1000 genomes]
rs72684840	0.91[EUR][1000 genomes]
rs72684849	0.91[EUR][1000 genomes]
rs72684857	1.00[EUR][1000 genomes]
rs72684861	1.00[EUR][1000 genomes]
rs72684862	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72684870	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72684873	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72684877	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7464656	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7814880	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7820948	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7824910	0.88[EUR][1000 genomes]
rs7826153	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7827841	0.91[EUR][1000 genomes]
rs7838415	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7838425	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs962670	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1804888	chr8:86263098-86986703	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv1807498	chr8:86405478-86986703	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	esv1828364	chr8:86405478-86986703	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	esv1831268	chr8:86405478-86986703	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	esv1844000	chr8:86405478-86986703	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	esv1851686	chr8:86405478-86986703	ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv427824	chr8:86405478-86986703	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	esv2758162	chr8:86405478-87055053	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	esv2759624	chr8:86405478-87055053	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	nsv428204	chr8:86405478-87312208	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
11	nsv529563	chr8:86467090-87381984	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
12	nsv482395	chr8:86766289-86986303	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv469603	chr8:86790049-86956911	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv482425	chr8:86790049-86956911	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	nsv891139	chr8:86827016-87001113	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
16	nsv1028959	chr8:86835367-87142383	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
17	nsv891146	chr8:86841229-87083747	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
18	nsv932023	chr8:86845979-87490694	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
19	nsv891147	chr8:86886950-87333968	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
20	esv2753776	chr8:86918562-87020337	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
21	nsv8363	chr8:86951247-86955816	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86946400-86951800	Weak transcription	Fetal Intestine Small	intestine
2	chr8:86949600-86951800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:86949600-86952400	Enhancers	Fetal Lung	lung
4	chr8:86949800-86951800	Enhancers	Fetal Stomach	stomach
5	chr8:86950000-86952400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr8:86950200-86952200	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr8:86950200-86952800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:86950200-86952800	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr8:86950400-86952200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:86950400-86952200	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr8:86950800-86951600	Enhancers	Lung	lung
12	chr8:86950800-86951800	Enhancers	Placenta	Placenta
13	chr8:86950800-86952200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr8:86950800-86952200	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr8:86950800-86952400	Enhancers	Colon Smooth Muscle	Colon
16	chr8:86950800-86952800	Enhancers	Ovary	ovary
17	chr8:86951000-86951600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:86951000-86952000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr8:86951000-86952200	Enhancers	Brain Anterior Caudate	brain
20	chr8:86951000-86952600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr8:86951200-86951600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr8:86951200-86951800	Enhancers	K562	blood
23	chr8:86951400-86952200	Enhancers	Brain Hippocampus Middle	brain

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