Variant report

Variant	rs72948836
Chromosome Location	chr6:73910108-73910109
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs16883494	0.99[ASN][1000 genomes]
rs17522390	0.99[ASN][1000 genomes]
rs2282448	0.80[ASN][1000 genomes]
rs2350381	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2350751	0.92[ASN][1000 genomes]
rs56144603	0.90[ASN][1000 genomes]
rs56956976	0.84[ASN][1000 genomes]
rs57535819	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61743058	0.88[EUR][1000 genomes]
rs72942627	0.90[ASN][1000 genomes]
rs72942634	0.90[ASN][1000 genomes]
rs72948831	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72948835	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72948839	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72950823	0.90[ASN][1000 genomes]
rs7759143	0.90[ASN][1000 genomes]
rs9688431	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[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	esv3410973	chr6:73716033-74419545	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1022151	chr6:73876795-73996828	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv538304	chr6:73876795-73996828	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73901000-73910200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr6:73902200-73910200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr6:73902800-73916600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr6:73903000-73910400	Weak transcription	HSMM	muscle
5	chr6:73903000-73912200	Weak transcription	Thymus	Thymus
6	chr6:73903800-73910600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:73904800-73910600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr6:73905000-73914000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr6:73906200-73916200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr6:73907000-73912600	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr6:73908000-73913600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:73908200-73913800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr6:73908400-73914000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr6:73909000-73913800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr6:73909200-73913600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr6:73909800-73910600	Weak transcription	Psoas Muscle	Psoas
17	chr6:73910000-73910800	Enhancers	Hela-S3	cervix
18	chr6:73910000-73911000	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr6:73910000-73915600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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

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