Variant report

Variant	rs12547261
Chromosome Location	chr8:10114107-10114108
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11777246	0.89[CEU][hapmap];0.85[CHB][hapmap];0.83[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11781781	0.84[JPT][hapmap]
rs11782517	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11782541	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11784866	0.86[ASN][1000 genomes]
rs12544785	0.94[JPT][hapmap]
rs12544801	0.94[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12549696	0.88[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12550483	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13248589	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13258235	0.94[CEU][hapmap];0.94[JPT][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13266832	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13267960	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13274653	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13279294	0.84[CHB][hapmap];0.82[JPT][hapmap]
rs34274326	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34780411	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34856980	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35222693	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs35226696	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35451364	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35474349	0.84[AMR][1000 genomes]
rs4258008	1.00[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4276692	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4295669	0.94[CEU][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4404920	0.84[CHB][hapmap]
rs4504638	0.84[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4563888	0.94[CEU][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4841301	0.93[ASN][1000 genomes]
rs58868895	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62491598	0.88[AMR][1000 genomes]
rs6601422	0.85[JPT][hapmap]
rs6985068	0.84[CHB][hapmap]
rs6990888	0.84[CHB][hapmap];0.94[JPT][hapmap]
rs7842910	0.84[CEU][hapmap]
rs7845806	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];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	nsv831230	chr8:9953343-10139350	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1021921	chr8:9958259-10212555	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv831231	chr8:10001214-10189094	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1026335	chr8:10037279-10139782	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1030934	chr8:10065169-10561161	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv1016347	chr8:10091475-10223667	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1028650	chr8:10101815-10178537	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10096000-10128000	Weak transcription	Stomach Smooth Muscle	stomach
2	chr8:10103200-10117800	Weak transcription	Pancreas	Pancrea
3	chr8:10103400-10115800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr8:10103600-10115600	Weak transcription	Fetal Intestine Small	intestine
5	chr8:10103600-10118000	Weak transcription	Gastric	stomach
6	chr8:10103600-10122600	Weak transcription	Spleen	Spleen
7	chr8:10104000-10124600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr8:10105600-10122800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr8:10112200-10119200	Weak transcription	Primary B cells from cord blood	blood
10	chr8:10112200-10124600	Weak transcription	Adipose Nuclei	Adipose
11	chr8:10112200-10124600	Weak transcription	Brain Substantia Nigra	brain
12	chr8:10112200-10127800	Weak transcription	Brain Hippocampus Middle	brain
13	chr8:10112800-10116800	Weak transcription	Fetal Brain Female	brain
14	chr8:10113000-10123200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr8:10113600-10117000	Weak transcription	Brain Germinal Matrix	brain
16	chr8:10113600-10124600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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