Variant report

Variant	rs1527708
Chromosome Location	chr6:72198638-72198639
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	chr6:72194308..72195999-chr6:72198421..72200514,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10214508	0.96[EUR][1000 genomes]
rs10485017	0.89[EUR][1000 genomes]
rs12183351	0.82[JPT][hapmap]
rs13197578	0.89[EUR][1000 genomes]
rs13202330	0.89[EUR][1000 genomes]
rs1333926	0.90[ASN][1000 genomes]
rs1358379	0.89[EUR][1000 genomes]
rs1405849	0.89[EUR][1000 genomes]
rs1527709	0.89[EUR][1000 genomes]
rs1527710	0.89[EUR][1000 genomes]
rs1527711	0.89[EUR][1000 genomes]
rs1527713	0.81[EUR][1000 genomes]
rs16881235	0.89[EUR][1000 genomes]
rs16881296	0.89[EUR][1000 genomes]
rs1852579	0.81[EUR][1000 genomes]
rs1881033	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1931212	0.94[ASN][1000 genomes]
rs2273064	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs35217364	0.89[EUR][1000 genomes]
rs35663023	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35995963	0.85[EUR][1000 genomes]
rs6918170	0.81[EUR][1000 genomes]
rs71555485	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7765945	0.89[EUR][1000 genomes]
rs7768778	0.83[YRI][hapmap]
rs9455454	0.81[EUR][1000 genomes]
rs980027	0.89[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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:72189200-72199200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:72189600-72199800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr6:72190400-72199000	Weak transcription	Hela-S3	cervix
4	chr6:72191400-72200400	Weak transcription	Psoas Muscle	Psoas
5	chr6:72192000-72200600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:72192000-72209600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr6:72192400-72199400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr6:72194800-72199000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:72196200-72199000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:72196400-72199000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:72196400-72199000	Weak transcription	NHDF-Ad	bronchial
12	chr6:72196400-72199200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:72196400-72199200	Weak transcription	Aorta	Aorta
14	chr6:72196400-72199200	Weak transcription	NHEK	skin
15	chr6:72196600-72198800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:72196600-72199000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr6:72196600-72199000	Weak transcription	NH-A	brain
18	chr6:72196800-72199000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:72196800-72199000	Weak transcription	Osteobl	bone
20	chr6:72197600-72199800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr6:72197800-72200000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr6:72197800-72201000	Enhancers	Muscle Satellite Cultured Cells	--
23	chr6:72198000-72201400	Enhancers	HSMMtube	muscle
24	chr6:72198000-72201600	Enhancers	HSMM	muscle
25	chr6:72198200-72199200	Weak transcription	Placenta	Placenta
26	chr6:72198200-72202400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr6:72198400-72205200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr6:72198600-72200600	Enhancers	NHLF	lung

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