Variant report

Variant	rs72948831
Chromosome Location	chr6:73907305-73907306
allele	A/C
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:16)

rs_ID	r²[population]
rs16883494	0.99[ASN][1000 genomes]
rs17522390	0.99[ASN][1000 genomes]
rs2350381	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2350751	0.90[ASN][1000 genomes]
rs56144603	0.88[ASN][1000 genomes]
rs56956976	0.82[ASN][1000 genomes]
rs57535819	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61743058	0.88[EUR][1000 genomes]
rs72942627	0.88[ASN][1000 genomes]
rs72942634	0.88[ASN][1000 genomes]
rs72948835	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72948836	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72948839	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72950823	0.88[ASN][1000 genomes]
rs7759143	0.88[ASN][1000 genomes]
rs9688431	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][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	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
4	nsv348893	chr6:73907304-73907319	Strong transcription Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73891000-73909600	Weak transcription	HSMMtube	muscle
2	chr6:73901000-73910200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr6:73902200-73910200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:73902800-73916600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr6:73903000-73910400	Weak transcription	HSMM	muscle
6	chr6:73903000-73912200	Weak transcription	Thymus	Thymus
7	chr6:73903400-73907800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr6:73903600-73907600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr6:73903800-73910600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:73904000-73907800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr6:73904800-73910600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr6:73905000-73914000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:73905200-73907600	Weak transcription	Aorta	Aorta
14	chr6:73905400-73908400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr6:73905400-73910000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr6:73906000-73907600	Weak transcription	Primary T cells from cord blood	blood
17	chr6:73906200-73916200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr6:73906400-73908600	Weak transcription	Primary B cells from cord blood	blood
19	chr6:73906600-73907600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr6:73907000-73912600	Weak transcription	Primary neutrophils fromperipheralblood	blood

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