Variant report

Variant	rs12537945
Chromosome Location	chr7:104538488-104538489
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:104538120..104539744-chr7:104542402..104544424,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10226456	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10235696	0.82[ASN][1000 genomes]
rs10236552	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10237433	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10238498	0.88[ASN][1000 genomes]
rs10247944	0.92[ASN][1000 genomes]
rs10253341	0.81[ASN][1000 genomes]
rs10257360	0.88[ASN][1000 genomes]
rs10266362	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10273609	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10274240	0.87[ASN][1000 genomes]
rs10280365	0.87[ASN][1000 genomes]
rs10281485	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10953457	0.94[ASN][1000 genomes]
rs12534673	0.91[ASN][1000 genomes]
rs12670275	0.88[ASN][1000 genomes]
rs12672211	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13225632	0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2285533	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs28478615	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28546781	0.82[ASN][1000 genomes]
rs28587189	0.88[ASN][1000 genomes]
rs34083033	0.82[ASN][1000 genomes]
rs34171467	0.84[ASN][1000 genomes]
rs35756879	0.86[ASN][1000 genomes]
rs35894637	0.82[ASN][1000 genomes]
rs35988800	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6949139	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6968540	0.80[ASN][1000 genomes]
rs7779117	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831086	chr7:104422503-104596766	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104524800-104540800	Weak transcription	Brain Anterior Caudate	brain
2	chr7:104525400-104540400	Weak transcription	Brain Substantia Nigra	brain
3	chr7:104527800-104539600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr7:104531400-104541800	Weak transcription	Pancreas	Pancrea
5	chr7:104531400-104542000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:104535000-104539800	Weak transcription	Brain Hippocampus Middle	brain
7	chr7:104535000-104557000	Weak transcription	Fetal Kidney	kidney
8	chr7:104535600-104542400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr7:104537200-104538800	Weak transcription	Small Intestine	intestine
10	chr7:104537200-104539000	Weak transcription	Fetal Intestine Small	intestine
11	chr7:104537200-104545200	Weak transcription	Fetal Intestine Large	intestine
12	chr7:104538000-104538800	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr7:104538000-104540400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr7:104538200-104539800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr7:104538200-104546600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr7:104538400-104538800	Enhancers	GM12878-XiMat	blood
17	chr7:104538400-104539800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:104538400-104540600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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