Variant report

Variant	rs11758568
Chromosome Location	chr6:73333195-73333196
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:73331830..73337292-chr6:73338860..73341706,8	K562	blood:
2	chr6:73262215..73264630-chr6:73332275..73334908,2	K562	blood:
3	chr6:73332974..73335121-chr6:73343658..73345935,2	K562	blood:
4	chr6:73332641..73334454-chr6:73519427..73521172,2	K562	blood:
5	chr6:73332489..73334434-chr6:73351844..73354373,2	K562	blood:

Variant related genes	Relation type
ENSG00000233844	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10943043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10943045	0.97[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10943050	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12189933	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12190091	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12190092	0.97[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12191039	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12191848	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12193274	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12194741	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12195259	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12196826	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12199549	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12200468	1.00[ASN][1000 genomes]
rs12201380	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12203288	0.97[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12204139	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12205254	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12210850	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12212419	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12212562	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12212818	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12214096	0.97[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12214894	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12374631	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17692715	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17692874	1.00[ASN][1000 genomes]
rs17692898	1.00[ASN][1000 genomes]
rs17749408	1.00[ASN][1000 genomes]
rs17749420	1.00[ASN][1000 genomes]
rs1928153	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34821312	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55633371	1.00[ASN][1000 genomes]
rs55826353	1.00[ASN][1000 genomes]
rs56086224	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56254477	1.00[ASN][1000 genomes]
rs56316829	1.00[ASN][1000 genomes]
rs62411975	1.00[ASN][1000 genomes]
rs62411984	1.00[ASN][1000 genomes]
rs62411986	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6453591	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6453592	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6453593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6453594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6922524	1.00[ASN][1000 genomes]
rs6922932	1.00[ASN][1000 genomes]
rs7748594	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7768673	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv1023809	chr6:73157813-73477997	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv538303	chr6:73157813-73477997	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv3347486	chr6:73283590-73445976	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3412497	chr6:73330856-73333404	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73329200-73333800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr6:73329400-73333200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
3	chr6:73329400-73334400	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr6:73329600-73333200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr6:73329600-73333200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr6:73329600-73333200	Active TSS	Aorta	Aorta
7	chr6:73329600-73333600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr6:73329600-73333600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr6:73329600-73333800	Active TSS	Brain Angular Gyrus	brain
10	chr6:73329800-73333200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
11	chr6:73329800-73333200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
12	chr6:73329800-73333200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
13	chr6:73329800-73333200	Active TSS	Psoas Muscle	Psoas
14	chr6:73329800-73333400	Active TSS	Primary T killer memory cells from peripheral blood	blood
15	chr6:73329800-73333400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr6:73330000-73333200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
17	chr6:73330200-73333200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr6:73330600-73333200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr6:73330800-73333200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr6:73330800-73333200	Flanking Active TSS	Pancreas	Pancrea
21	chr6:73330800-73333400	Bivalent/Poised TSS	NHDF-Ad	bronchial
22	chr6:73330800-73333400	Active TSS	Osteobl	bone
23	chr6:73331000-73333200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr6:73331000-73333200	Active TSS	Primary T helper naive cells from peripheral blood	blood
25	chr6:73331000-73333200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
26	chr6:73331000-73333600	Bivalent/Poised TSS	A549	lung
27	chr6:73331000-73334000	Active TSS	HSMMtube	muscle
28	chr6:73331200-73333400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr6:73331200-73333400	Active TSS	Primary B cells from peripheral blood	blood
30	chr6:73331400-73333200	Active TSS	Primary T cells from cord blood	blood
31	chr6:73331400-73333200	Active TSS	Muscle Satellite Cultured Cells	--
32	chr6:73331400-73333200	Active TSS	Lung	lung
33	chr6:73331400-73333200	Active TSS	Placenta Amnion	Placenta Amnion
34	chr6:73331400-73333600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr6:73331400-73334600	Active TSS	GM12878-XiMat	blood
36	chr6:73331600-73333200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr6:73331600-73333200	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
38	chr6:73331600-73333200	Bivalent/Poised TSS	Thymus	Thymus
39	chr6:73331600-73333400	Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr6:73331600-73333400	Active TSS	HMEC	breast
41	chr6:73331600-73333600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
42	chr6:73331600-73333600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
43	chr6:73331600-73333600	Active TSS	HSMM	muscle
44	chr6:73331600-73334200	Bivalent/Poised TSS	Fetal Brain Female	brain
45	chr6:73331600-73334400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr6:73331600-73334400	Active TSS	K562	blood
47	chr6:73331800-73333200	Flanking Bivalent TSS/Enh	Right Ventricle	heart
48	chr6:73331800-73333200	Active TSS	NHEK	skin
49	chr6:73331800-73333600	Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr6:73332200-73333200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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