Variant report

Variant	rs7786253
Chromosome Location	chr7:39604190-39604191
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17171603	0.80[AFR][1000 genomes]
rs58299139	0.80[AFR][1000 genomes]
rs59071947	0.97[AFR][1000 genomes]
rs6462933	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6948276	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6980317	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73375670	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73375695	0.83[AFR][1000 genomes]
rs73377370	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73377373	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7777434	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7785964	0.80[AFR][1000 genomes]
rs7802552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9768664	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9770659	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021180	chr7:39424988-39642261	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1026951	chr7:39429036-39642261	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1018430	chr7:39455497-39643569	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv887970	chr7:39587912-39688152	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 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	chr7:39597200-39605200	Weak transcription	Fetal Brain Male	brain
2	chr7:39597600-39604800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr7:39598200-39605000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:39601000-39605000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr7:39601000-39605000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr7:39601000-39605000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr7:39601000-39605000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr7:39601000-39605000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr7:39601000-39605200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr7:39601200-39605000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr7:39601200-39605000	Weak transcription	K562	blood
12	chr7:39601400-39605000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:39601400-39605200	Weak transcription	Fetal Intestine Large	intestine
14	chr7:39601600-39605200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr7:39604000-39604200	Enhancers	Small Intestine	intestine
16	chr7:39604000-39604400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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