Variant report

Variant	rs10792112
Chromosome Location	chr11:57565800-57565801
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:57508686..57513679-chr11:57564628..57569734,7	K562	blood:
2	chr11:57555253..57557894-chr11:57565432..57567473,2	MCF-7	breast:
3	chr11:57510465..57513227-chr11:57564022..57568202,4	K562	blood:
4	chr11:57527835..57531502-chr11:57565390..57568379,5	MCF-7	breast:
5	chr11:57545030..57547537-chr11:57565376..57568397,5	MCF-7	breast:
6	chr11:57517600..57521846-chr11:57565397..57568354,3	K562	blood:
7	chr11:57561787..57564365-chr11:57565479..57568145,2	MCF-7	breast:
8	chr11:57527376..57533264-chr11:57564914..57570096,15	MCF-7	breast:
9	chr11:57546790..57549756-chr11:57565706..57567444,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000198561	Chromatin interaction
ENSG00000233436	Chromatin interaction
ENSG00000254732	Chromatin interaction
ENSG00000211450	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10896633	0.84[ASN][1000 genomes]
rs10896636	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10896647	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10896656	0.81[EUR][1000 genomes]
rs10896661	0.80[EUR][1000 genomes]
rs10896662	0.80[EUR][1000 genomes]
rs11229113	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11229116	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11229130	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11229131	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11229148	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11229160	0.81[EUR][1000 genomes]
rs11570190	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11601320	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11601449	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11602109	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11604325	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11604333	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11605731	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11606396	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11607056	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12146541	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12360939	0.81[EUR][1000 genomes]
rs12362166	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12785533	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12790196	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12790660	0.88[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12798206	0.81[EUR][1000 genomes]
rs12804972	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12805841	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12807250	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12807357	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs1647405	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17455520	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2509808	0.86[EUR][1000 genomes]
rs2847308	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2926656	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35808061	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3781885	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4827	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs488769	0.90[ASN][1000 genomes]
rs499188	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs527528	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs543725	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs547891	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs576859	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs589914	0.86[EUR][1000 genomes]
rs631791	0.81[EUR][1000 genomes]
rs644883	0.84[EUR][1000 genomes]
rs6591434	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs674094	0.82[EUR][1000 genomes]
rs682503	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs708228	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7116341	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7117205	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7117878	0.81[ASN][1000 genomes]
rs7121169	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7129727	0.82[EUR][1000 genomes]
rs71484461	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71484468	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7932091	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7936998	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7938083	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7949841	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9420	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9645687	0.81[EUR][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	nsv1054205	chr11:57544264-58358509	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10792112	MED19	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:138 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57556000-57567800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:57556400-57587800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:57557200-57566200	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr11:57557200-57566200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr11:57558400-57567200	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr11:57558400-57567400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr11:57558600-57567200	Strong transcription	Fetal Brain Female	brain
8	chr11:57559400-57571000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr11:57559800-57566600	Strong transcription	Fetal Stomach	stomach
10	chr11:57559800-57566800	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr11:57560000-57566000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr11:57560000-57566000	Strong transcription	Left Ventricle	heart
13	chr11:57560400-57567200	Strong transcription	Fetal Muscle Trunk	muscle
14	chr11:57560600-57566000	Strong transcription	Stomach Smooth Muscle	stomach
15	chr11:57560800-57566000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr11:57560800-57566000	Strong transcription	NH-A	brain
17	chr11:57561200-57565800	Strong transcription	HSMM	muscle
18	chr11:57561200-57566200	Strong transcription	HSMMtube	muscle
19	chr11:57561200-57566400	Strong transcription	H1 Cell Line	embryonic stem cell
20	chr11:57561400-57566000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:57561400-57566000	Strong transcription	Skeletal Muscle Female	skeletal muscle
22	chr11:57561600-57565800	Strong transcription	Liver	Liver
23	chr11:57561600-57566000	Strong transcription	Fetal Muscle Leg	muscle
24	chr11:57561600-57566000	Genic enhancers	Rectal Mucosa Donor 31	rectum
25	chr11:57561600-57566200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr11:57561600-57566400	Strong transcription	Placenta	Placenta
27	chr11:57561600-57566600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr11:57561600-57566600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr11:57561600-57566600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr11:57561600-57568000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr11:57561600-57568000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr11:57561800-57565800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr11:57561800-57566200	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr11:57561800-57566600	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr11:57562000-57566200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr11:57562000-57566600	Weak transcription	Right Atrium	heart
37	chr11:57562400-57565800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr11:57562400-57566600	Strong transcription	Brain Germinal Matrix	brain
39	chr11:57562600-57566000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr11:57562600-57566000	Strong transcription	Fetal Lung	lung
41	chr11:57562600-57566000	Strong transcription	Skeletal Muscle Male	skeletal muscle
42	chr11:57562600-57566400	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr11:57562600-57566600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr11:57562600-57566800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr11:57562800-57566200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr11:57562800-57566200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr11:57562800-57566400	Strong transcription	Fetal Thymus	thymus
48	chr11:57563000-57565800	Strong transcription	Colon Smooth Muscle	Colon
49	chr11:57563000-57565800	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr11:57563000-57566200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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