Variant report

Variant	rs73459727
Chromosome Location	chr6:56777071-56777072
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:56773027..56775523-chr6:56776633..56778873,3	K562	blood:
2	chr6:56775814..56778593-chr6:56816617..56819922,3	MCF-7	breast:
3	chr6:56773281..56775523-chr6:56776609..56780879,5	K562	blood:

Variant related genes	Relation type
ENSG00000151917	Chromatin interaction
ENSG00000151914	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1901383	1.00[AMR][1000 genomes]
rs1966847	1.00[AMR][1000 genomes]
rs56008741	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56968726	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57331007	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57842130	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59744924	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61409759	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6903352	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6932491	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6932994	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73455810	1.00[AMR][1000 genomes]
rs73459707	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73459720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73459728	1.00[AMR][1000 genomes]
rs73459729	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73459730	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73459735	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73463711	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73463713	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73463717	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73463718	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73463719	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73463728	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73463732	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73463735	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73463736	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73463737	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7738415	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv934026	chr6:56382056-57184218	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv533050	chr6:56504480-57297586	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv1021651	chr6:56569444-56966319	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv538228	chr6:56569444-56966319	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv1022714	chr6:56729767-56826642	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv538229	chr6:56729767-56826642	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv5315	chr6:56752042-56798761	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56770000-56779200	Weak transcription	Brain Angular Gyrus	brain
2	chr6:56771600-56777600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr6:56772000-56777400	Weak transcription	K562	blood
4	chr6:56774000-56779600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:56775400-56778000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr6:56775600-56777600	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr6:56775600-56777600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr6:56775600-56777600	Enhancers	NHEK	skin
9	chr6:56775600-56777800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr6:56775600-56777800	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr6:56775600-56778400	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr6:56775600-56778400	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr6:56775600-56778400	Enhancers	HSMM	muscle
14	chr6:56775600-56779400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr6:56775800-56777200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr6:56775800-56777600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr6:56775800-56777600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr6:56775800-56777800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr6:56775800-56777800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr6:56775800-56778000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr6:56775800-56779600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr6:56775800-56780600	Enhancers	NHLF	lung
23	chr6:56775800-56781200	Enhancers	Osteobl	bone
24	chr6:56776000-56777400	Enhancers	HMEC	breast
25	chr6:56776000-56777600	Enhancers	H9 Cell Line	embryonic stem cell
26	chr6:56776000-56778200	Enhancers	Muscle Satellite Cultured Cells	--
27	chr6:56776400-56777600	Weak transcription	Fetal Brain Female	brain
28	chr6:56776400-56778800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:56776600-56777400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr6:56776600-56777600	Enhancers	NH-A	brain
31	chr6:56776600-56781200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr6:56776800-56777200	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr6:56776800-56777200	Enhancers	Placenta	Placenta
34	chr6:56776800-56777400	Enhancers	NHDF-Ad	bronchial
35	chr6:56777000-56778000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr6:56777000-56778200	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr6:56777000-56779600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr6:56777000-56780400	Enhancers	HSMMtube	muscle
39	chr6:56777000-56781000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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