Variant report

Variant	rs56271755
Chromosome Location	chr6:28793250-28793251
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:28783316..28785641-chr6:28791797..28793442,2	K562	blood:
2	chr6:28788096..28790497-chr6:28791295..28793656,2	K562	blood:
3	chr6:28792315..28794351-chr6:28951949..28954807,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000227214	Chromatin interaction
ENSG00000244349	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12386522	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17375288	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs209181	1.00[ASN][1000 genomes]
rs209189	0.96[EUR][1000 genomes]
rs2754763	1.00[EUR][1000 genomes]
rs2754765	1.00[EUR][1000 genomes]
rs41270616	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs453020	1.00[EUR][1000 genomes]
rs55908628	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56110474	1.00[EUR][1000 genomes]
rs56678427	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9468439	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9468440	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9468445	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9468447	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9468450	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9468451	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9468460	0.85[EUR][1000 genomes]
rs9500892	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9501162	0.90[AMR][1000 genomes];1.00[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	nsv534089	chr6:28636972-28841640	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv883517	chr6:28751727-28802149	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv883518	chr6:28792477-28911802	Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
4	nsv883519	chr6:28792477-28936556	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28791200-28794000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr6:28792200-28793400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:28792400-28793600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:28792400-28793600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
5	chr6:28792400-28793800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:28792400-28793800	Flanking Active TSS	K562	blood
7	chr6:28792600-28793400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr6:28792600-28793800	Flanking Bivalent TSS/Enh	NHEK	skin
9	chr6:28792600-28794000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
10	chr6:28792600-28794000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
11	chr6:28792800-28793400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
12	chr6:28792800-28793400	Bivalent Enhancer	Fetal Heart	heart
13	chr6:28792800-28793400	Flanking Bivalent TSS/Enh	HepG2	liver
14	chr6:28792800-28793600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr6:28792800-28793600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:28792800-28793600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
17	chr6:28792800-28793600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
18	chr6:28792800-28793600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
19	chr6:28792800-28793600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr6:28792800-28793800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
21	chr6:28792800-28794000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
22	chr6:28792800-28794000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
23	chr6:28793000-28793400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr6:28793000-28793400	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr6:28793000-28793400	Flanking Bivalent TSS/Enh	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr6:28793000-28793400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
27	chr6:28793000-28793400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr6:28793000-28793400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr6:28793000-28793400	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
30	chr6:28793000-28793400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr6:28793000-28793400	Bivalent Enhancer	Fetal Muscle Leg	muscle
32	chr6:28793000-28793400	Flanking Bivalent TSS/Enh	Osteobl	bone
33	chr6:28793000-28793600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr6:28793000-28793600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr6:28793000-28793600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
36	chr6:28793000-28793600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
37	chr6:28793000-28793600	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
38	chr6:28793000-28793600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr6:28793000-28793600	Bivalent Enhancer	Adipose Nuclei	Adipose
40	chr6:28793000-28793600	Bivalent Enhancer	Fetal Brain Male	brain
41	chr6:28793000-28793600	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
42	chr6:28793000-28793600	Bivalent/Poised TSS	A549	lung
43	chr6:28793000-28793600	Flanking Bivalent TSS/Enh	HMEC	breast
44	chr6:28793000-28793800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
45	chr6:28793000-28793800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
46	chr6:28793000-28793800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
47	chr6:28793000-28793800	Bivalent Enhancer	Fetal Stomach	stomach
48	chr6:28793000-28793800	Bivalent Enhancer	Spleen	Spleen
49	chr6:28793200-28793400	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr6:28793200-28793400	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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