Variant report

Variant	rs17280818
Chromosome Location	chr6:28697751-28697752
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	UBTF	chr6:28697697-28697772	K562	blood:	n/a	n/a
2	KAP1	chr6:28696432-28698094	HEK293	kidney:	n/a	n/a
3	MYC	chr6:28696758-28698073	A549	lung:	n/a	n/a
4	ZNF384	chr6:28696910-28697943	K562	blood:	n/a	n/a
5	TEAD4	chr6:28696410-28697953	K562	blood:	n/a	n/a
6	MAX	chr6:28697742-28698281	A549	lung:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:28695857..28698165-chr6:28761272..28763967,2	K562	blood:
2	chr6:28694465..28699409-chr6:28701823..28706376,12	K562	blood:
3	chr6:28666298..28671313-chr6:28695437..28699521,5	K562	blood:
4	chr6:28695842..28698712-chr6:28863478..28865661,2	K562	blood:
5	chr6:28695559..28699343-chr6:28721391..28727067,6	K562	blood:
6	chr6:28697655..28699447-chr6:28898332..28901038,2	K562	blood:
7	chr6:28695145..28698066-chr6:28723238..28727067,5	K562	blood:

No data

Variant related genes	Relation type
RPSAP2	TF binding region
ENSG00000224157	Chromatin interaction
ENSG00000265764	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10498733	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1233582	1.00[ASN][1000 genomes]
rs169682	0.94[AMR][1000 genomes]
rs17280797	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17281186	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17346574	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17398081	0.81[ASN][1000 genomes]
rs185982	0.94[AMR][1000 genomes]
rs1891757	0.97[AFR][1000 genomes]
rs1936180	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs209190	0.94[AMR][1000 genomes]
rs209192	0.94[AMR][1000 genomes]
rs209193	0.94[AMR][1000 genomes]
rs2754761	0.94[AMR][1000 genomes]
rs2754762	0.94[AMR][1000 genomes]
rs2754765	0.82[AMR][1000 genomes]
rs2765222	0.94[AMR][1000 genomes]
rs2765223	0.94[AMR][1000 genomes]
rs398795	0.94[AMR][1000 genomes]
rs453020	0.82[AMR][1000 genomes]
rs55641015	0.95[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs55659253	0.80[AMR][1000 genomes]
rs55764335	0.80[AMR][1000 genomes]
rs55891766	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56003969	0.92[AFR][1000 genomes]
rs56030816	0.83[AMR][1000 genomes]
rs56098960	0.80[AMR][1000 genomes]
rs56110474	0.82[AMR][1000 genomes]
rs56165011	0.80[AMR][1000 genomes]
rs56296645	1.00[AFR][1000 genomes]
rs56308612	0.94[AMR][1000 genomes]
rs56374518	0.94[AMR][1000 genomes]
rs56384403	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs57170714	0.95[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs57491524	0.88[AMR][1000 genomes]
rs57693980	1.00[AFR][1000 genomes]
rs57748269	0.92[AFR][1000 genomes]
rs57791058	0.80[AMR][1000 genomes]
rs57965355	0.80[AMR][1000 genomes]
rs58104924	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58238888	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs58258185	0.80[AMR][1000 genomes]
rs59233561	0.95[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs59475656	0.95[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs59959723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60252686	0.80[AMR][1000 genomes]
rs60311527	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs61094745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61208746	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs61703239	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs6909960	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs6923795	0.80[AMR][1000 genomes]
rs6938988	0.88[AMR][1000 genomes]
rs6939948	0.82[AMR][1000 genomes]
rs7742889	0.95[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs7748319	0.92[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7751451	0.80[AMR][1000 genomes]
rs7751884	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7755641	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7758798	0.80[AMR][1000 genomes]
rs7760656	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7765829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7766599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7772111	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7772682	0.97[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs9688414	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs9767359	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28694200-28697800	Active TSS	K562	blood
2	chr6:28695800-28698000	Active TSS	NH-A	brain
3	chr6:28695800-28698200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:28695800-28698200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr6:28696000-28697800	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr6:28696000-28698000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:28696000-28698000	Active TSS	HMEC	breast
8	chr6:28696200-28697800	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr6:28696200-28697800	Active TSS	H1 Cell Line	embryonic stem cell
10	chr6:28696200-28697800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:28696200-28697800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr6:28696200-28698000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:28696200-28698000	Active TSS	Ovary	ovary
14	chr6:28696200-28698400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
15	chr6:28696200-28698400	Active TSS	A549	lung
16	chr6:28696400-28697800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr6:28696400-28697800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr6:28696400-28697800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr6:28696400-28697800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
20	chr6:28696400-28697800	Active TSS	GM12878-XiMat	blood
21	chr6:28696400-28698000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr6:28696400-28698000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr6:28696400-28698000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
24	chr6:28696400-28698000	Active TSS	Brain Hippocampus Middle	brain
25	chr6:28696400-28698000	Active TSS	NHDF-Ad	bronchial
26	chr6:28696400-28698200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr6:28696400-28698200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr6:28696400-28698200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr6:28696400-28698200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr6:28696400-28698200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr6:28696400-28698400	Active TSS	H9 Cell Line	embryonic stem cell
32	chr6:28696400-28698600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
33	chr6:28696600-28698000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr6:28696600-28698200	Active TSS	Right Atrium	heart
35	chr6:28696800-28698000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr6:28697000-28697800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr6:28697000-28697800	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr6:28697000-28697800	Weak transcription	Esophagus	oesophagus
39	chr6:28697000-28698000	Bivalent/Poised TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr6:28697200-28697800	Enhancers	Liver	Liver
41	chr6:28697200-28697800	Bivalent Enhancer	Fetal Muscle Leg	muscle
42	chr6:28697200-28698000	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr6:28697200-28698000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
44	chr6:28697200-28698200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
45	chr6:28697200-28698200	Active TSS	Adipose Nuclei	Adipose
46	chr6:28697200-28698400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
47	chr6:28697200-28698400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
48	chr6:28697400-28698000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
49	chr6:28697400-28698000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr6:28697600-28697800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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