Variant report

Variant	rs10234248
Chromosome Location	chr7:78024547-78024548
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1005269	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10231406	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10234367	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10237959	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10260692	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10265453	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10272154	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10281742	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10281997	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12540636	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13223430	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16886001	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17150618	0.90[EUR][1000 genomes]
rs17150638	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17150651	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17150656	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2058279	0.90[EUR][1000 genomes]
rs2068892	0.90[EUR][1000 genomes]
rs2191324	0.90[EUR][1000 genomes]
rs2191327	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2215378	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28571911	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28613654	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28752122	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62468258	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6466170	0.90[EUR][1000 genomes]
rs6466176	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6466177	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6466179	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6967651	0.92[ASN][1000 genomes]
rs7781496	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7789307	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7789774	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7794948	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7795420	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7807494	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7810778	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9640699	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022764	chr7:77911072-78316607	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1033518	chr7:78013657-78038797	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78010000-78024600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:78015800-78028600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:78017400-78029800	Weak transcription	Aorta	Aorta
4	chr7:78019000-78026600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr7:78019000-78026800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr7:78023000-78047200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr7:78023200-78028000	Weak transcription	Brain Hippocampus Middle	brain
8	chr7:78023600-78025600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr7:78023600-78025800	Enhancers	Osteobl	bone
10	chr7:78023600-78026000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr7:78023600-78028600	Weak transcription	Ovary	ovary
12	chr7:78023800-78024800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr7:78023800-78025400	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr7:78023800-78025600	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr7:78023800-78025800	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr7:78023800-78026000	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr7:78024000-78025600	Enhancers	Muscle Satellite Cultured Cells	--
18	chr7:78024200-78026800	Weak transcription	Brain Substantia Nigra	brain
19	chr7:78024200-78035600	Weak transcription	Brain Angular Gyrus	brain
20	chr7:78024400-78024600	Enhancers	Brain Anterior Caudate	brain
21	chr7:78024400-78024800	Weak transcription	Brain Cingulate Gyrus	brain

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