Variant report

Variant	rs57027127
Chromosome Location	chr6:45804168-45804169
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:45803222..45805979-chr6:45808021..45810551,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs55940345	1.00[EUR][1000 genomes]
rs59916509	1.00[EUR][1000 genomes]
rs60146555	1.00[EUR][1000 genomes]
rs6933663	1.00[EUR][1000 genomes]
rs73735482	1.00[EUR][1000 genomes]
rs9472631	1.00[EUR][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	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv532024	chr6:45475088-45982640	Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45799200-45805400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr6:45799400-45805200	Weak transcription	Primary T cells from cord blood	blood
3	chr6:45802800-45804800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr6:45803000-45805200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:45803000-45805200	Enhancers	HMEC	breast
6	chr6:45803000-45805800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr6:45803000-45805800	Enhancers	Fetal Heart	heart
8	chr6:45803000-45807000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr6:45803200-45804200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:45803200-45804600	Weak transcription	Gastric	stomach
11	chr6:45803200-45805200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr6:45803200-45805200	Enhancers	Placenta	Placenta
13	chr6:45803200-45805200	Enhancers	NHEK	skin
14	chr6:45803200-45806000	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr6:45803200-45806600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr6:45803400-45804600	Weak transcription	Right Atrium	heart
17	chr6:45803400-45805000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr6:45803400-45805200	Enhancers	Left Ventricle	heart
19	chr6:45803600-45804200	Enhancers	Placenta Amnion	Placenta Amnion
20	chr6:45803600-45805200	Enhancers	HSMMtube	muscle
21	chr6:45803600-45807000	Enhancers	Primary hematopoietic stem cells	blood
22	chr6:45803600-45807000	Enhancers	Fetal Thymus	thymus
23	chr6:45803800-45805000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr6:45803800-45807400	Enhancers	Dnd41	blood
25	chr6:45804000-45804400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr6:45804000-45804600	Enhancers	Right Ventricle	heart

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