Variant report

Variant	rs577741
Chromosome Location	chr11:57480717-57480718
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr11:57479125-57480793	K562	blood:	n/a	n/a
2	MXI1	chr11:57478662-57480846	IMR90	lung:	n/a	n/a
3	GABPA	chr11:57479115-57480762	A549	lung:	n/a	chr11:57479213-57479222
4	HCFC1	chr11:57478908-57481423	Hela-S3	cervix:	n/a	n/a
5	REST	chr11:57478992-57480794	H1-neurons	neurons:	n/a	chr11:57479293-57479300
6	POLR2A	chr11:57480680-57480740	MCF-7	breast:	n/a	n/a
7	MYC	chr11:57479198-57480781	K562	blood:	n/a	n/a
8	POLR2A	chr11:57479092-57480749	GM12892	blood:	n/a	n/a
9	IRF1	chr11:57479179-57480852	K562	blood:	n/a	chr11:57480035-57480049 chr11:57480531-57480541 chr11:57479401-57479410 chr11:57480531-57480545 chr11:57479768-57479782
10	TBL1XR1	chr11:57479999-57480734	K562	blood:	n/a	n/a
11	WRNIP1	chr11:57479691-57481391	GM12878	blood:	n/a	n/a
12	POLR2A	chr11:57479039-57480892	HL-60	blood:	n/a	n/a
13	FOXM1	chr11:57479494-57480752	ECC-1	luminal epithelium:	n/a	n/a
14	POLR2A	chr11:57478849-57480792	K562	blood:	n/a	n/a
15	MAX	chr11:57479167-57480825	A549	lung:	n/a	n/a
16	POLR2A	chr11:57480554-57480749	MCF10A-Er-Src	breast:	n/a	n/a
17	STAT5A	chr11:57479964-57480744	GM12878	blood:	n/a	chr11:57480033-57480045
18	USF2	chr11:57480064-57480749	GM12878	blood:	n/a	n/a
19	MYC	chr11:57479210-57480842	K562	blood:	n/a	n/a
20	MAX	chr11:57479116-57480717	ECC-1	luminal epithelium:	n/a	n/a
21	POLR2A	chr11:57479141-57480730	HepG2	liver:	n/a	n/a
22	TBP	chr11:57480637-57480840	K562	blood:	n/a	n/a
23	MAX	chr11:57479288-57480762	NB4	blood:	n/a	n/a
24	MXI1	chr11:57478302-57481119	SK-N-SH	brain:	n/a	n/a
25	POLR2A	chr11:57480642-57480747	K562	blood:	n/a	n/a
26	POLR2A	chr11:57478926-57480761	HepG2	liver:	n/a	n/a
27	HCFC1	chr11:57479264-57480744	K562	blood:	n/a	n/a
28	MXI1	chr11:57479153-57480868	GM12878	blood:	n/a	n/a
29	POLR2A	chr11:57479158-57480798	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr11:57478967-57480732	PFSK-1	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:57296138..57298827-chr11:57479075..57481840,2	K562	blood:
2	chr11:57478353..57481972-chr11:57506953..57510365,5	MCF-7	breast:
3	chr11:57480551..57482263-chr11:57512925..57515700,2	K562	blood:
4	chr11:57433212..57437810-chr11:57477098..57481918,8	MCF-7	breast:
5	chr11:57478095..57482223-chr11:57507421..57512003,5	K562	blood:
6	chr11:57478057..57480948-chr11:57506438..57510938,4	MCF-7	breast:
7	chr11:57479298..57481073-chr11:57485511..57487387,2	MCF-7	breast:
8	chr11:57478095..57481312-chr11:57507421..57511942,8	K562	blood:
9	chr11:57433936..57437289-chr11:57477964..57482818,9	K562	blood:
10	chr11:57433884..57439071-chr11:57477629..57483930,15	K562	blood:

No data

Variant related genes	Relation type
MED19	TF binding region
ENSG00000211450	Chromatin interaction
ENSG00000213592	Chromatin interaction
ENSG00000134809	Chromatin interaction
ENSG00000156599	Chromatin interaction
ENSG00000254732	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10896634	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11229087	0.88[ASN][1000 genomes]
rs11229115	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1267146	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1424752	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2848445	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs479573	0.86[ASN][1000 genomes]
rs480933	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs483030	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs486995	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs491719	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs492131	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs501054	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs501738	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs503037	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs504311	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs504921	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs507946	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs509564	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs511708	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs515939	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs517638	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs518804	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs523985	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs527140	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs530094	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs536673	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs537627	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs540234	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs541245	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs544446	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs549022	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs549279	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs558653	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs567017	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs581217	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58132137	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs594233	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs604094	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs604344	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs608648	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs609596	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs612688	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61888873	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61888880	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs624759	0.84[ASN][1000 genomes]
rs627816	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs628100	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs636807	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs638864	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs640767	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs645097	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs647264	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs656227	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs658183	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs666021	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs669433	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs669950	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs675154	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs676205	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs685110	0.80[AMR][1000 genomes]
rs7108113	0.84[ASN][1000 genomes]
rs72928102	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs96894	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
8	nsv975188	chr11:57480320-57494198	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs577741	MED19	Cis_1M	lymphoblastoid	RTeQTL
rs577741	MED19	cis	Artery Tibial	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57478400-57480800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:57478400-57481200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr11:57478400-57481800	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr11:57478600-57480800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:57478600-57480800	Active TSS	HSMMtube	muscle
6	chr11:57478600-57480800	Active TSS	NHLF	lung
7	chr11:57478600-57481000	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr11:57478600-57481000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr11:57478600-57481000	Active TSS	HSMM	muscle
10	chr11:57478600-57481200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:57478600-57481200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr11:57478600-57481400	Active TSS	H9 Cell Line	embryonic stem cell
13	chr11:57478600-57481600	Active TSS	K562	blood
14	chr11:57478600-57481800	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr11:57478800-57480800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:57478800-57480800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr11:57478800-57480800	Active TSS	Muscle Satellite Cultured Cells	--
18	chr11:57478800-57480800	Active TSS	NHDF-Ad	bronchial
19	chr11:57478800-57481000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr11:57478800-57481000	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr11:57478800-57481000	Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr11:57478800-57481000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr11:57478800-57481000	Active TSS	Aorta	Aorta
24	chr11:57478800-57481000	Active TSS	Fetal Kidney	kidney
25	chr11:57478800-57481200	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr11:57478800-57481200	Active TSS	Ovary	ovary
27	chr11:57478800-57481200	Active TSS	A549	lung
28	chr11:57478800-57482000	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr11:57478800-57482400	Active TSS	GM12878-XiMat	blood
30	chr11:57479000-57480800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr11:57479000-57480800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr11:57479000-57480800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr11:57479000-57480800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr11:57479000-57480800	Active TSS	Brain Anterior Caudate	brain
35	chr11:57479000-57480800	Active TSS	Colon Smooth Muscle	Colon
36	chr11:57479000-57480800	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr11:57479000-57480800	Active TSS	Fetal Brain Male	brain
38	chr11:57479000-57480800	Active TSS	Lung	lung
39	chr11:57479000-57480800	Active TSS	Rectal Smooth Muscle	rectum
40	chr11:57479000-57480800	Active TSS	Sigmoid Colon	Sigmoid Colon
41	chr11:57479000-57480800	Bivalent/Poised TSS	HepG2	liver
42	chr11:57479000-57480800	Active TSS	NH-A	brain
43	chr11:57479000-57480800	Active TSS	NHEK	skin
44	chr11:57479000-57480800	Active TSS	Osteobl	bone
45	chr11:57479000-57481000	Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr11:57479000-57481000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:57479000-57481000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr11:57479000-57481000	Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr11:57479000-57481000	Active TSS	Fetal Intestine Large	intestine
50	chr11:57479000-57481000	Active TSS	Fetal Intestine Small	intestine

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