Variant report

Variant	rs56030816
Chromosome Location	chr6:28762581-28762582
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:28762168..28764957-chr6:28971752..28974125,2	K562	blood:
2	chr6:28691994..28695396-chr6:28761030..28763739,3	K562	blood:
3	chr6:28761882..28764605-chr6:28861705..28864953,3	K562	blood:

Variant related genes	Relation type
ENSG00000224157	Chromatin interaction
ENSG00000197935	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs169682	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17280797	0.83[AMR][1000 genomes]
rs17280818	0.83[AMR][1000 genomes]
rs17281186	0.83[AMR][1000 genomes]
rs17346574	0.83[AMR][1000 genomes]
rs185982	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs209189	0.81[AFR][1000 genomes]
rs209190	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs209192	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs209193	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs209199	1.00[ASN][1000 genomes]
rs2754761	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2754762	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2754765	0.89[AFR][1000 genomes]
rs2765220	1.00[ASN][1000 genomes]
rs2765222	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2765223	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3131344	1.00[ASN][1000 genomes]
rs3132372	1.00[ASN][1000 genomes]
rs398795	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3999045	0.92[AFR][1000 genomes]
rs417919	1.00[ASN][1000 genomes]
rs453020	0.81[AFR][1000 genomes]
rs55659253	0.95[AFR][1000 genomes]
rs55764335	0.95[AFR][1000 genomes]
rs55891766	0.83[AMR][1000 genomes]
rs56098960	0.95[AFR][1000 genomes]
rs56165011	0.95[AFR][1000 genomes]
rs56308612	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56374518	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57491524	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57791058	0.95[AFR][1000 genomes]
rs57965355	0.95[AFR][1000 genomes]
rs58258185	0.95[AFR][1000 genomes]
rs59959723	0.83[AMR][1000 genomes]
rs60252686	0.95[AFR][1000 genomes]
rs61094745	0.83[AMR][1000 genomes]
rs6916286	0.90[AFR][1000 genomes]
rs6923795	0.95[AFR][1000 genomes]
rs6938988	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6939948	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7751451	0.95[AFR][1000 genomes]
rs7758798	0.90[AFR][1000 genomes]
rs7760656	0.83[AMR][1000 genomes]
rs7765829	0.83[AMR][1000 genomes]
rs7766599	0.83[AMR][1000 genomes]
rs9257190	1.00[ASN][1000 genomes]
rs9257226	1.00[ASN][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	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	esv3384463	chr6:28759027-28776259	Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28759600-28763600	Weak transcription	Hela-S3	cervix
2	chr6:28761600-28762600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr6:28761600-28762600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr6:28761600-28762800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr6:28761600-28762800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:28761600-28763000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
7	chr6:28761600-28763000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
8	chr6:28761600-28763800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
9	chr6:28761600-28764600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr6:28761800-28762600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
11	chr6:28761800-28762600	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr6:28761800-28762600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
13	chr6:28761800-28762600	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr6:28761800-28762600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
15	chr6:28761800-28762600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
16	chr6:28761800-28762600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr6:28761800-28762600	Flanking Active TSS	Placenta	Placenta
18	chr6:28761800-28762600	Active TSS	HSMM	muscle
19	chr6:28761800-28762600	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
20	chr6:28761800-28762600	Bivalent/Poised TSS	NH-A	brain
21	chr6:28761800-28762600	Bivalent/Poised TSS	NHEK	skin
22	chr6:28761800-28762800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr6:28761800-28762800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:28761800-28762800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
25	chr6:28761800-28762800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr6:28761800-28762800	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr6:28761800-28762800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr6:28761800-28762800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr6:28761800-28762800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr6:28761800-28762800	Bivalent/Poised TSS	NHLF	lung
31	chr6:28761800-28763000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr6:28761800-28763000	Active TSS	A549	lung
33	chr6:28761800-28763600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
34	chr6:28761800-28763600	Flanking Active TSS	K562	blood
35	chr6:28761800-28764200	Flanking Active TSS	HepG2	liver
36	chr6:28762000-28762600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr6:28762000-28762600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr6:28762000-28762600	Bivalent Enhancer	Fetal Intestine Large	intestine
39	chr6:28762000-28762800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr6:28762000-28762800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr6:28762000-28762800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
42	chr6:28762000-28762800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr6:28762000-28762800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr6:28762000-28762800	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
45	chr6:28762000-28762800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
46	chr6:28762000-28762800	Bivalent Enhancer	Fetal Muscle Leg	muscle
47	chr6:28762000-28762800	Flanking Active TSS	Osteobl	bone
48	chr6:28762000-28763000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr6:28762200-28762600	Bivalent/Poised TSS	Primary hematopoietic stem cells short term culture	blood
50	chr6:28762200-28762800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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