Variant report

Variant	rs58306819
Chromosome Location	chr11:72054966-72054967
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:72047915..72051506-chr11:72051775..72054985,4	K562	blood:
2	chr11:72045249..72047564-chr11:72053809..72055795,2	K562	blood:
3	chr11:72041520..72043853-chr11:72052921..72055836,2	K562	blood:
4	chr11:72053457..72056097-chr11:72143813..72145902,2	K562	blood:

Variant related genes	Relation type
ENSG00000162129	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs12416741	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12417751	0.81[AFR][1000 genomes]
rs1783632	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1784257	0.93[ASN][1000 genomes]
rs2508201	0.87[ASN][1000 genomes]
rs2508204	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2508861	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2508865	0.87[ASN][1000 genomes]
rs2508866	0.93[ASN][1000 genomes]
rs36049191	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs472837	0.93[ASN][1000 genomes]
rs487288	0.93[ASN][1000 genomes]
rs506041	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55723921	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56229279	0.93[ASN][1000 genomes]
rs56333926	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57276029	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57291879	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57464210	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57614093	0.87[ASN][1000 genomes]
rs57669200	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs58489620	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58753751	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs590732	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs59427981	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59509230	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59612321	0.87[ASN][1000 genomes]
rs59755180	0.89[EUR][1000 genomes]
rs59980097	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60024067	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs60849224	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61563240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs650834	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7108974	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7116854	0.87[ASN][1000 genomes]
rs7130652	0.87[ASN][1000 genomes]
rs73528886	0.87[ASN][1000 genomes]
rs73528892	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73528897	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73530721	0.82[AFR][1000 genomes]
rs7952074	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832206	chr11:72006573-72176017	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	esv1794740	chr11:72021720-72332931	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72012800-72070600	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr11:72026600-72067400	Weak transcription	Fetal Intestine Large	intestine
3	chr11:72027600-72060600	Weak transcription	Brain Hippocampus Middle	brain
4	chr11:72028400-72060800	Weak transcription	Gastric	stomach
5	chr11:72030600-72060200	Weak transcription	Adipose Nuclei	Adipose
6	chr11:72033000-72075600	Weak transcription	A549	lung
7	chr11:72033200-72063800	Weak transcription	Aorta	Aorta
8	chr11:72038200-72071200	Weak transcription	HMEC	breast
9	chr11:72038400-72076600	Weak transcription	Liver	Liver
10	chr11:72038800-72060600	Weak transcription	Esophagus	oesophagus
11	chr11:72039400-72060400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:72039800-72077400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr11:72040000-72060200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr11:72040000-72070800	Weak transcription	Duodenum Mucosa	Duodenum
15	chr11:72040400-72060600	Weak transcription	Ovary	ovary
16	chr11:72040400-72069400	Weak transcription	Fetal Brain Female	brain
17	chr11:72040800-72070800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr11:72041000-72060200	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr11:72041400-72064600	Weak transcription	Hela-S3	cervix
20	chr11:72041600-72060600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr11:72041800-72060600	Weak transcription	Psoas Muscle	Psoas
22	chr11:72041800-72063600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr11:72041800-72067400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr11:72041800-72072200	Weak transcription	HUVEC	blood vessel
25	chr11:72041800-72076000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr11:72042000-72059800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr11:72043200-72076600	Weak transcription	Primary B cells from peripheral blood	blood
28	chr11:72044800-72063600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr11:72045000-72060800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr11:72045200-72060400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr11:72045600-72060600	Weak transcription	Thymus	Thymus
32	chr11:72045600-72061000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr11:72045600-72065200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr11:72045800-72065600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr11:72045800-72094600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr11:72046000-72066200	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr11:72046000-72074200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr11:72046200-72067800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr11:72047200-72060600	Weak transcription	Lung	lung
40	chr11:72047200-72065600	Weak transcription	Stomach Smooth Muscle	stomach
41	chr11:72047400-72060800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr11:72048000-72055000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr11:72048200-72060400	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr11:72048200-72060800	Weak transcription	Fetal Intestine Small	intestine
45	chr11:72048200-72067400	Weak transcription	Fetal Stomach	stomach
46	chr11:72048200-72069400	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr11:72048400-72063200	Weak transcription	Placenta	Placenta
48	chr11:72048400-72067800	Weak transcription	NHEK	skin
49	chr11:72049400-72060600	Weak transcription	Left Ventricle	heart
50	chr11:72049600-72067600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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