Variant report

Variant	rs7108113
Chromosome Location	chr11:57419349-57419350
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:57411937-57420676	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr11:57410796-57421100	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr11:57412052-57419760	MCF10A-Er-Src	breast:	n/a	n/a
4	ATF2	chr11:57418946-57419669	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr11:57410821-57420904	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr11:57417265-57420354	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr11:57419328-57419471	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr11:57418861-57419372	ECC-1	luminal epithelium:	n/a	n/a
9	POLR2A	chr11:57409804-57420281	PFSK-1	brain:	n/a	n/a
10	POLR2A	chr11:57418841-57419456	PFSK-1	brain:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:57415751..57417478-chr11:57419075..57422993,4	K562	blood:
2	chr11:57419081..57422303-chr11:57422733..57426519,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZDHHC5-1	chr11:57417771-57420263	ENSG00000254602.1

No data

Variant related genes	Relation type
YPEL4	TF binding region
ENSG00000254602	Chromatin interaction
ENSG00000172409	Chromatin interaction
ENSG00000166793	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10896634	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11229087	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11229115	0.84[ASN][1000 genomes]
rs1267146	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12793139	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1424752	0.84[ASN][1000 genomes]
rs2848445	0.81[ASN][1000 genomes]
rs479573	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs480933	0.84[ASN][1000 genomes]
rs483030	0.81[ASN][1000 genomes]
rs486995	0.80[ASN][1000 genomes]
rs491719	0.84[ASN][1000 genomes]
rs492131	0.84[ASN][1000 genomes]
rs501054	0.81[ASN][1000 genomes]
rs501738	0.84[ASN][1000 genomes]
rs503037	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs504311	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs504921	0.81[AMR][1000 genomes]
rs509564	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs511708	0.84[ASN][1000 genomes]
rs515939	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs517638	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs518804	0.84[ASN][1000 genomes]
rs523985	0.84[ASN][1000 genomes]
rs527140	0.84[ASN][1000 genomes]
rs530094	0.83[ASN][1000 genomes]
rs536673	0.84[ASN][1000 genomes]
rs537627	0.84[ASN][1000 genomes]
rs540234	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs541245	0.84[ASN][1000 genomes]
rs544446	0.84[ASN][1000 genomes]
rs549022	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs549279	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs558653	0.84[ASN][1000 genomes]
rs567017	0.81[ASN][1000 genomes]
rs577741	0.84[ASN][1000 genomes]
rs594233	0.81[ASN][1000 genomes]
rs604094	0.81[ASN][1000 genomes]
rs604344	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs608648	0.81[ASN][1000 genomes]
rs61888873	0.84[ASN][1000 genomes]
rs61888880	0.84[ASN][1000 genomes]
rs638864	0.81[ASN][1000 genomes]
rs640767	0.81[ASN][1000 genomes]
rs647264	0.81[ASN][1000 genomes]
rs656227	0.81[ASN][1000 genomes]
rs658183	0.81[ASN][1000 genomes]
rs669433	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs669950	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs675154	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv832163	chr11:57299354-57481050	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	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
6	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
7	esv992553	chr11:57408294-57419351	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7108113	MED19	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57417800-57419800	Weak transcription	Ovary	ovary
2	chr11:57417800-57420200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr11:57417800-57420200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr11:57417800-57424600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:57417800-57424600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:57418000-57419600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr11:57418000-57419800	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr11:57418000-57420000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:57418000-57420000	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr11:57418000-57420000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr11:57418000-57420200	Weak transcription	Primary T cells from cord blood	blood
12	chr11:57418000-57420200	Weak transcription	NHLF	lung
13	chr11:57418000-57420400	Weak transcription	Fetal Lung	lung
14	chr11:57418000-57424200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr11:57418000-57424200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr11:57418000-57424200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr11:57418000-57424200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr11:57418000-57424400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr11:57418000-57424600	Weak transcription	Right Atrium	heart
20	chr11:57418000-57424600	Weak transcription	HSMM	muscle
21	chr11:57418200-57419600	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr11:57418200-57419600	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr11:57418200-57419600	Weak transcription	Placenta	Placenta
24	chr11:57418200-57420000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr11:57418200-57420000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr11:57418200-57420200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:57418200-57420200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr11:57418200-57420200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr11:57418200-57420400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr11:57418200-57420600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr11:57418200-57424200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr11:57418200-57424200	Weak transcription	Brain Hippocampus Middle	brain
33	chr11:57418200-57424400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr11:57418400-57419800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr11:57418400-57424600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr11:57418600-57419800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr11:57418600-57420200	Weak transcription	K562	blood
38	chr11:57418600-57424200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr11:57418600-57424600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:57418800-57424600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr11:57419200-57420400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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