Variant report

Variant	rs73401144
Chromosome Location	chr6:27064632-27064633
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:27063517..27066449-chr6:27068447..27070527,3	K562	blood:
2	chr6:27063847..27066118-chr6:27098069..27100719,2	K562	blood:
3	chr6:26922448..26924229-chr6:27062597..27064654,2	K562	blood:
4	chr6:27062755..27066396-chr6:27068240..27071755,4	K562	blood:
5	chr6:27062735..27064770-chr6:27065188..27068099,2	K562	blood:
6	chr6:26574454..26577093-chr6:27063520..27065530,2	K562	blood:
7	chr6:27059758..27061626-chr6:27062610..27064960,3	MCF-7	breast:
8	chr6:27064276..27066861-chr6:27093581..27096436,2	K562	blood:
9	chr6:26283850..26285980-chr6:27064223..27066253,2	MCF-7	breast:
10	chr6:27054006..27058135-chr6:27062347..27065420,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000124635	Chromatin interaction
ENSG00000158406	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11967487	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11968996	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11969113	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12661273	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12663161	1.00[ASN][1000 genomes]
rs12665480	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56824660	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58678580	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6921711	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73384370	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73384380	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73399191	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73399199	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73401114	0.83[AFR][1000 genomes]
rs73401122	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73401133	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7741445	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7765489	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948921	chr6:26556890-27443957	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	472 gene(s)	inside rSNPs	diseases
2	esv2758038	chr6:26695219-27095714	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	67 gene(s)	inside rSNPs	diseases
3	esv2759410	chr6:26695219-27095714	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	67 gene(s)	inside rSNPs	diseases
4	nsv1029124	chr6:26825468-27109774	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	244 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs73401144	RP11-457M11.5	cis	Whole Blood	GTEx
rs73401144	RP11-457M11.5	cis	Artery Tibial	GTEx
rs73401144	GUSBP2	cis	lung	GTEx
rs73401144	RP11-457M11.5	cis	Nerve Tibial	GTEx
rs73401144	RP11-457M11.5	cis	lung	GTEx
rs73401144	RP11-457M11.5	cis	Thyroid	GTEx
rs73401144	RP11-457M11.5	cis	Stomach	GTEx
rs73401144	RP11-457M11.5	cis	Muscle Skeletal	GTEx
rs73401144	RP11-457M11.5	cis	Adipose Subcutaneous	GTEx
rs73401144	RP11-457M11.5	cis	Skin Sun Exposed Lower leg	GTEx
rs73401144	RP11-457M11.5	cis	Esophagus Mucosa	GTEx

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27063800-27065000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
2	chr6:27063800-27065600	Active TSS	H1 Cell Line	embryonic stem cell
3	chr6:27064000-27064800	Active TSS	K562	blood
4	chr6:27064000-27065600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr6:27064000-27065600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr6:27064000-27065600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr6:27064000-27066600	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr6:27064200-27065200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:27064200-27065200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr6:27064200-27065200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
11	chr6:27064200-27065400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr6:27064200-27065400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
13	chr6:27064200-27065400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr6:27064200-27065400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:27064200-27065400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:27064200-27065400	Active TSS	Muscle Satellite Cultured Cells	--
17	chr6:27064200-27065400	Active TSS	A549	lung
18	chr6:27064200-27065600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr6:27064200-27065600	Active TSS	H9 Cell Line	embryonic stem cell
20	chr6:27064200-27065600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr6:27064400-27064800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr6:27064400-27064800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
23	chr6:27064400-27064800	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
24	chr6:27064400-27064800	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
25	chr6:27064400-27064800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
26	chr6:27064400-27064800	Flanking Active TSS	Right Ventricle	heart
27	chr6:27064400-27064800	Bivalent/Poised TSS	Thymus	Thymus
28	chr6:27064400-27064800	Flanking Active TSS	NH-A	brain
29	chr6:27064400-27065000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr6:27064400-27065000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr6:27064400-27065000	Flanking Bivalent TSS/Enh	Primary T helper naive cells from peripheral blood	blood
32	chr6:27064400-27065000	Bivalent/Poised TSS	Primary T helper naive cells fromperipheralblood	blood
33	chr6:27064400-27065000	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
34	chr6:27064400-27065000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr6:27064400-27065000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
36	chr6:27064400-27065000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
37	chr6:27064400-27065000	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
38	chr6:27064400-27065000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
39	chr6:27064400-27065000	Flanking Active TSS	HUVEC	blood vessel
40	chr6:27064400-27065000	Active TSS	NHDF-Ad	bronchial
41	chr6:27064400-27065200	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr6:27064400-27065200	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
43	chr6:27064400-27065200	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
44	chr6:27064400-27065200	Bivalent/Poised TSS	Primary B cells from cord blood	blood
45	chr6:27064400-27065200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
46	chr6:27064400-27065200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
47	chr6:27064400-27065200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
48	chr6:27064400-27065200	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
49	chr6:27064400-27065200	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
50	chr6:27064400-27065200	Bivalent Enhancer	Fetal Brain Male	brain

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