Variant report

Variant	rs17373046
Chromosome Location	chr7:78200397-78200398
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10485889	1.00[ASW][hapmap]
rs11765998	0.91[ASN][1000 genomes]
rs17352924	1.00[ASW][hapmap]
rs17431866	1.00[ASW][hapmap]
rs17437895	1.00[CEU][hapmap];0.88[JPT][hapmap];1.00[AFR][1000 genomes]
rs17438614	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56028221	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57937917	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62468615	1.00[AFR][1000 genomes]
rs62468624	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62468645	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62468646	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62468647	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62468648	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17373046	LOC100133091	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78193200-78205600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr7:78193200-78209000	Weak transcription	Psoas Muscle	Psoas
3	chr7:78195800-78205600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr7:78198200-78205600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:78198400-78205600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr7:78198400-78216000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr7:78199200-78200600	Enhancers	Brain Hippocampus Middle	brain
8	chr7:78199600-78201000	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr7:78199600-78201800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr7:78199800-78200800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr7:78199800-78200800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr7:78199800-78200800	Enhancers	Brain Anterior Caudate	brain
13	chr7:78200000-78200400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr7:78200000-78200400	Enhancers	Brain Angular Gyrus	brain
15	chr7:78200000-78200400	Enhancers	Fetal Lung	lung
16	chr7:78200000-78201000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:78200000-78201000	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr7:78200000-78201000	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr7:78200200-78200800	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr7:78200200-78203600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:78200200-78207600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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