Variant report

Variant	rs504139
Chromosome Location	chr6:72201407-72201408
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:72200765..72203412-chr6:72209014..72210877,2	MCF-7	breast:
2	chr6:72199284..72202242-chr6:72207805..72209852,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10155718	0.83[EUR][1000 genomes]
rs1738070	0.83[EUR][1000 genomes]
rs4141421	0.84[EUR][1000 genomes]
rs472572	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs472935	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs478959	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs492196	0.95[ASN][1000 genomes]
rs493265	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs494938	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs495002	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs524110	0.95[ASN][1000 genomes]
rs537876	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs543625	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs547466	0.93[ASN][1000 genomes]
rs547558	0.95[ASN][1000 genomes]
rs548456	0.95[ASN][1000 genomes]
rs555643	0.95[ASN][1000 genomes]
rs558116	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs573317	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs580319	0.95[ASN][1000 genomes]
rs701698	0.84[EUR][1000 genomes]
rs701699	0.84[EUR][1000 genomes]
rs852919	0.83[EUR][1000 genomes]
rs852920	0.83[EUR][1000 genomes]
rs852923	0.83[EUR][1000 genomes]
rs852924	0.83[EUR][1000 genomes]
rs852926	0.83[EUR][1000 genomes]
rs852927	0.83[EUR][1000 genomes]
rs852928	0.83[EUR][1000 genomes]
rs852962	0.81[CEU][hapmap];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830684	chr6:72094842-72282684	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	488 gene(s)	inside rSNPs	diseases
2	nsv1025409	chr6:72175998-72205044	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:72192000-72209600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:72198000-72201600	Enhancers	HSMM	muscle
3	chr6:72198200-72202400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:72198400-72205200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr6:72199000-72201600	Enhancers	Placenta Amnion	Placenta Amnion
6	chr6:72199600-72205600	Weak transcription	Aorta	Aorta
7	chr6:72199800-72205000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr6:72200000-72205000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr6:72200000-72205200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr6:72200200-72201800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr6:72200200-72205200	Weak transcription	Osteobl	bone
12	chr6:72200200-72205400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:72200400-72205200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr6:72200400-72205200	Weak transcription	HUVEC	blood vessel
15	chr6:72200600-72201800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr6:72200600-72205000	Weak transcription	NHLF	lung
17	chr6:72200800-72205600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr6:72201000-72205200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr6:72201000-72205200	Weak transcription	Fetal Muscle Leg	muscle
20	chr6:72201000-72206400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr6:72201400-72205200	Weak transcription	HSMMtube	muscle

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