Variant report

Variant	rs558116
Chromosome Location	chr6:72200097-72200098
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	chr6:72199284..72202242-chr6:72207805..72209852,2	MCF-7	breast:
2	chr6:72194308..72195999-chr6:72198421..72200514,2	K562	blood:

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

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

rs_ID	r²[population]
rs10155718	0.84[EUR][1000 genomes]
rs1738070	0.84[EUR][1000 genomes]
rs4141421	0.84[EUR][1000 genomes]
rs472572	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs472935	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs478959	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs492196	0.95[ASN][1000 genomes]
rs493265	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs494938	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs495002	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs504139	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs524110	0.95[ASN][1000 genomes]
rs537876	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs543625	0.94[AFR][1000 genomes];0.86[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]
rs573317	0.86[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	0.84[EUR][1000 genomes]
rs852920	0.84[EUR][1000 genomes]
rs852923	0.84[EUR][1000 genomes]
rs852924	0.84[EUR][1000 genomes]
rs852926	0.84[EUR][1000 genomes]
rs852927	0.84[EUR][1000 genomes]
rs852928	0.84[EUR][1000 genomes]
rs852962	0.81[CEU][hapmap];0.84[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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:72191400-72200400	Weak transcription	Psoas Muscle	Psoas
2	chr6:72192000-72200600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:72192000-72209600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr6:72197800-72201000	Enhancers	Muscle Satellite Cultured Cells	--
5	chr6:72198000-72201400	Enhancers	HSMMtube	muscle
6	chr6:72198000-72201600	Enhancers	HSMM	muscle
7	chr6:72198200-72202400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr6:72198400-72205200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr6:72198600-72200600	Enhancers	NHLF	lung
10	chr6:72199000-72200200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:72199000-72200200	Enhancers	Osteobl	bone
12	chr6:72199000-72200400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr6:72199000-72200400	Enhancers	HMEC	breast
14	chr6:72199000-72200600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr6:72199000-72200600	Enhancers	Hela-S3	cervix
16	chr6:72199000-72201600	Enhancers	Placenta Amnion	Placenta Amnion
17	chr6:72199200-72200200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr6:72199200-72200200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr6:72199200-72200200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:72199200-72200200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr6:72199200-72200600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr6:72199200-72200800	Enhancers	Placenta	Placenta
23	chr6:72199400-72200200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:72199400-72201000	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr6:72199600-72200200	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr6:72199600-72200200	Enhancers	Fetal Lung	lung
27	chr6:72199600-72205600	Weak transcription	Aorta	Aorta
28	chr6:72199800-72200200	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr6:72199800-72205000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr6:72200000-72200400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr6:72200000-72200400	Enhancers	HUVEC	blood vessel
32	chr6:72200000-72205000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr6:72200000-72205200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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