Variant report

Variant	rs72928102
Chromosome Location	chr11:57500820-57500821
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:57500682..57502285-chr11:57504001..57506800,2	K562	blood:
2	chr11:57498498..57505272-chr11:57506931..57510531,11	K562	blood:
3	chr11:57469769..57472099-chr11:57500346..57502166,2	K562	blood:
4	chr11:57499622..57501292-chr11:57529457..57531445,2	K562	blood:
5	chr11:57478787..57481298-chr11:57498370..57501137,2	K562	blood:
6	chr11:57478135..57480594-chr11:57499312..57501229,2	MCF-7	breast:
7	chr11:57500332..57503212-chr11:57510757..57513480,2	K562	blood:
8	chr11:57498498..57504801-chr11:57505226..57510317,13	K562	blood:
9	chr11:57500164..57502598-chr11:57510322..57513009,2	MCF-7	breast:
10	chr11:57493357..57495761-chr11:57498560..57501047,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000156603	Chromatin interaction
ENSG00000254462	Chromatin interaction
ENSG00000211450	Chromatin interaction
ENSG00000254732	Chromatin interaction
ENSG00000213593	Chromatin interaction
ENSG00000198561	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10896634	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11229115	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1424752	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2848445	0.85[EUR][1000 genomes]
rs480933	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs483030	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs486995	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs491719	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs492131	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs501054	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs501738	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs503037	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs504311	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs504921	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs507946	0.87[EUR][1000 genomes]
rs509564	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs511708	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs517638	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs518804	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs523985	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs527140	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs530094	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs536673	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs537627	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs540234	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs541245	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs544446	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs549022	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs549279	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs558653	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs567017	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs577741	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs580223	0.80[AMR][1000 genomes]
rs581217	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58132137	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs594233	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs604094	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs604344	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs608648	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs609596	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs612688	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61888873	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61888880	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs628100	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs636807	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs638864	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs640767	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs645097	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs647264	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs656227	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs658183	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs666021	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs669433	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs669950	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs675154	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs676205	0.81[AFR][1000 genomes]
rs96894	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv1040913	chr11:57315006-57696122	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	nsv832164	chr11:57407617-57578825	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
6	nsv508633	chr11:57419585-57560045	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72928102	MED19	cis	Artery Tibial	GTEx

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57481000-57508400	Weak transcription	Aorta	Aorta
2	chr11:57481200-57508400	Weak transcription	Fetal Brain Male	brain
3	chr11:57481400-57503200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:57481400-57505000	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr11:57481400-57506000	Weak transcription	Pancreas	Pancrea
6	chr11:57481600-57505000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr11:57481600-57505000	Weak transcription	Fetal Kidney	kidney
8	chr11:57481600-57505000	Weak transcription	NH-A	brain
9	chr11:57481600-57506200	Weak transcription	Colonic Mucosa	Colon
10	chr11:57481600-57508400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr11:57481800-57503000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr11:57481800-57503000	Weak transcription	HSMM	muscle
13	chr11:57481800-57505000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr11:57481800-57505000	Weak transcription	Fetal Lung	lung
15	chr11:57482000-57505000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr11:57482000-57505000	Weak transcription	NHLF	lung
17	chr11:57482000-57505200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr11:57482000-57505200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr11:57482000-57508200	Weak transcription	Brain Substantia Nigra	brain
20	chr11:57482200-57505000	Weak transcription	Brain Anterior Caudate	brain
21	chr11:57482200-57505000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr11:57482200-57505200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr11:57482200-57508200	Weak transcription	Colon Smooth Muscle	Colon
24	chr11:57482400-57503000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr11:57482400-57504800	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr11:57482400-57505000	Weak transcription	Brain Angular Gyrus	brain
27	chr11:57482400-57508000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr11:57482400-57508200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr11:57482400-57508200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr11:57482400-57508200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr11:57482600-57503000	Weak transcription	Fetal Heart	heart
32	chr11:57482600-57508000	Weak transcription	Small Intestine	intestine
33	chr11:57486000-57502000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr11:57486000-57502800	Weak transcription	Right Ventricle	heart
35	chr11:57486000-57504800	Weak transcription	Primary B cells from cord blood	blood
36	chr11:57486000-57505000	Weak transcription	Adipose Nuclei	Adipose
37	chr11:57486000-57505200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr11:57486000-57505200	Weak transcription	Spleen	Spleen
39	chr11:57486000-57505800	Weak transcription	Gastric	stomach
40	chr11:57486000-57508400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:57486200-57501200	Weak transcription	Brain Germinal Matrix	brain
42	chr11:57486200-57505200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr11:57487600-57505000	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr11:57488200-57503000	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr11:57488200-57504600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr11:57488200-57505200	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr11:57488200-57506200	Weak transcription	NHDF-Ad	bronchial
48	chr11:57488400-57501200	Weak transcription	HepG2	liver
49	chr11:57488600-57505200	Weak transcription	HSMMtube	muscle
50	chr11:57488800-57505800	Weak transcription	Rectal Smooth Muscle	rectum

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