Variant report

Variant	rs547891
Chromosome Location	chr11:57499065-57499066
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:57498498..57505272-chr11:57506931..57510531,11	K562	blood:
2	chr11:57478787..57481298-chr11:57498370..57501137,2	K562	blood:
3	chr11:57498498..57504801-chr11:57505226..57510317,13	K562	blood:
4	chr11:57494675..57496703-chr11:57498004..57500040,2	K562	blood:
5	chr11:57493357..57495761-chr11:57498560..57501047,2	MCF-7	breast:

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

Extended variants
information (count: 58 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10792112	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10896633	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10896636	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10896647	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11229113	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11229116	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11229130	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11229131	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11229148	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11570190	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11601320	0.81[EUR][1000 genomes]
rs11601449	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11602109	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11604325	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11604333	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11605731	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11606396	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11607056	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12146541	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12362166	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12785533	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12790196	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12804972	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12805841	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12807250	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1647405	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17455520	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2847308	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2926656	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35808061	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3781885	0.90[EUR][1000 genomes]
rs4827	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs488769	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs499188	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs527528	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs543725	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs576859	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6591434	0.80[ASN][1000 genomes]
rs682503	0.81[EUR][1000 genomes]
rs708228	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7116341	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7117205	0.81[EUR][1000 genomes]
rs7117878	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7121169	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7129727	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs71484461	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71484468	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7932091	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7936998	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7938083	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7949841	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9420	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][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
rs547891	MED19	Cis_1M	lymphoblastoid	RTeQTL

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	chr11:57481400-57500200	Weak transcription	Esophagus	oesophagus
4	chr11:57481400-57503200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:57481400-57505000	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr11:57481400-57506000	Weak transcription	Pancreas	Pancrea
7	chr11:57481600-57505000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr11:57481600-57505000	Weak transcription	Fetal Kidney	kidney
9	chr11:57481600-57505000	Weak transcription	NH-A	brain
10	chr11:57481600-57506200	Weak transcription	Colonic Mucosa	Colon
11	chr11:57481600-57508400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr11:57481800-57503000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr11:57481800-57503000	Weak transcription	HSMM	muscle
14	chr11:57481800-57505000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr11:57481800-57505000	Weak transcription	Fetal Lung	lung
16	chr11:57482000-57505000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr11:57482000-57505000	Weak transcription	NHLF	lung
18	chr11:57482000-57505200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr11:57482000-57505200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr11:57482000-57508200	Weak transcription	Brain Substantia Nigra	brain
21	chr11:57482200-57505000	Weak transcription	Brain Anterior Caudate	brain
22	chr11:57482200-57505000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr11:57482200-57505200	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr11:57482200-57508200	Weak transcription	Colon Smooth Muscle	Colon
25	chr11:57482400-57500400	Weak transcription	Hela-S3	cervix
26	chr11:57482400-57503000	Weak transcription	Stomach Smooth Muscle	stomach
27	chr11:57482400-57504800	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr11:57482400-57505000	Weak transcription	Brain Angular Gyrus	brain
29	chr11:57482400-57508000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr11:57482400-57508200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr11:57482400-57508200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr11:57482400-57508200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr11:57482600-57499800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr11:57482600-57503000	Weak transcription	Fetal Heart	heart
35	chr11:57482600-57508000	Weak transcription	Small Intestine	intestine
36	chr11:57482800-57499600	Weak transcription	Psoas Muscle	Psoas
37	chr11:57486000-57502000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr11:57486000-57502800	Weak transcription	Right Ventricle	heart
39	chr11:57486000-57504800	Weak transcription	Primary B cells from cord blood	blood
40	chr11:57486000-57505000	Weak transcription	Adipose Nuclei	Adipose
41	chr11:57486000-57505200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr11:57486000-57505200	Weak transcription	Spleen	Spleen
43	chr11:57486000-57505800	Weak transcription	Gastric	stomach
44	chr11:57486000-57508400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:57486200-57501200	Weak transcription	Brain Germinal Matrix	brain
46	chr11:57486200-57505200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr11:57487600-57505000	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr11:57488200-57503000	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr11:57488200-57504600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr11:57488200-57505200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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