Variant report

Variant	rs56028221
Chromosome Location	chr7:78191048-78191049
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17373046	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17437895	1.00[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs17438614	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs57937917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62468615	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62468624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62468645	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62468646	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62468647	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62468648	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78187000-78192600	Enhancers	Brain Hippocampus Middle	brain
2	chr7:78187000-78198000	Weak transcription	Aorta	Aorta
3	chr7:78188200-78191600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:78188200-78192000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:78188200-78192600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr7:78188400-78191200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr7:78188800-78191400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr7:78189200-78191200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr7:78189600-78191200	Weak transcription	Fetal Brain Male	brain
10	chr7:78189600-78191400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr7:78189800-78191200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr7:78190000-78192600	Enhancers	Brain Substantia Nigra	brain
13	chr7:78190200-78191200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr7:78190200-78191200	Enhancers	Dnd41	blood
15	chr7:78190200-78192200	Enhancers	Thymus	Thymus
16	chr7:78190400-78191600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr7:78190400-78193600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:78190400-78194000	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr7:78190600-78191800	Enhancers	Fetal Thymus	thymus
20	chr7:78190800-78193200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:78190800-78193200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:78191000-78191400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr7:78191000-78192000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr7:78191000-78192200	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr7:78191000-78192600	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr7:78191000-78192800	Enhancers	Brain Anterior Caudate	brain
27	chr7:78191000-78193000	Enhancers	Brain Angular Gyrus	brain
28	chr7:78191000-78193200	Enhancers	H1 Cell Line	embryonic stem cell

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