Variant report

Variant	rs62468646
Chromosome Location	chr7:78197143-78197144
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11765998	0.91[ASN][1000 genomes]
rs17373046	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17437895	1.00[AFR][1000 genomes]
rs17438614	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56028221	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs57937917	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62468615	1.00[AFR][1000 genomes]
rs62468624	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62468645	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62468647	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62468648	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62468649	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv1022199	chr7:78054639-78469370	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv538986	chr7:78054639-78469370	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78187000-78198000	Weak transcription	Aorta	Aorta
2	chr7:78193200-78197400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr7:78193200-78205600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:78193200-78209000	Weak transcription	Psoas Muscle	Psoas
5	chr7:78193600-78199400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr7:78195200-78198000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr7:78195200-78198400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr7:78195600-78197600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:78195600-78199600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr7:78195800-78197800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:78195800-78199800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr7:78195800-78205600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr7:78196000-78198200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr7:78196200-78197800	Enhancers	Brain Cingulate Gyrus	brain
15	chr7:78196200-78198400	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr7:78196400-78198400	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr7:78196600-78198000	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr7:78196600-78198200	Enhancers	Brain Anterior Caudate	brain
19	chr7:78196600-78198400	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr7:78196800-78197200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr7:78196800-78197200	Flanking Active TSS	Brain Angular Gyrus	brain
22	chr7:78196800-78197600	Active TSS	Brain Hippocampus Middle	brain
23	chr7:78196800-78198400	Active TSS	Brain Substantia Nigra	brain
24	chr7:78197000-78198000	Enhancers	Fetal Lung	lung

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