Variant report

Variant	rs667451
Chromosome Location	chr19:55626826-55626827
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELF1	chr19:55626799-55627184	K562	blood:	n/a	chr19:55626999-55627012
2	MXI1	chr19:55626740-55628692	SK-N-SH	brain:	n/a	n/a
3	MAZ	chr19:55626583-55630118	IMR90	lung:	n/a	chr19:55627724-55627733 chr19:55627722-55627735 chr19:55627724-55627733
4	MAZ	chr19:55626769-55627238	K562	blood:	n/a	n/a
5	TEAD4	chr19:55626779-55627228	K562	blood:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:55590301..55596157-chr19:55624719..55630906,19	K562	blood:
2	chr19:55597966..55599485-chr19:55626673..55628218,2	K562	blood:
3	chr19:55601384..55605740-chr19:55625589..55630501,6	MCF-7	breast:
4	chr19:55591309..55594573-chr19:55626629..55629730,4	MCF-7	breast:
5	chr19:55572074..55574772-chr19:55626716..55630173,3	K562	blood:
6	chr19:55624933..55628932-chr19:55685116..55688802,5	K562	blood:
7	chr19:55589341..55594280-chr19:55623400..55630615,14	K562	blood:
8	chr19:55625250..55627278-chr19:55627441..55628964,2	MCF-7	breast:
9	chr19:55626440..55629266-chr19:55687388..55690294,2	K562	blood:
10	chr19:55624850..55627348-chr19:55669347..55671433,3	K562	blood:
11	chr19:55597985..55600071-chr19:55626718..55628397,2	K562	blood:
12	chr19:55625474..55630122-chr19:55917760..55920694,6	K562	blood:
13	chr19:55626366..55629144-chr19:56151698..56154505,2	MCF-7	breast:

No data

Variant related genes	Relation type
PPP1R12C	TF binding region
ENSG00000267577	Chromatin interaction
ENSG00000173581	Chromatin interaction
ENSG00000160439	Chromatin interaction
ENSG00000131037	Chromatin interaction
ENSG00000108106	Chromatin interaction
ENSG00000125503	Chromatin interaction
ENSG00000171425	Chromatin interaction
ENSG00000213015	Chromatin interaction
ENSG00000129990	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10404178	1.00[CHD][hapmap]
rs1860325	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes]
rs2603697	0.94[EUR][1000 genomes]
rs575144	0.92[CEU][hapmap];1.00[GIH][hapmap];0.95[TSI][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534462	chr19:55028722-55683018	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	nsv912449	chr19:55595687-55630425	Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv912450	chr19:55595687-55633043	Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv912452	chr19:55595687-55644325	Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv912451	chr19:55595687-55680746	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv1055961	chr19:55613727-55644076	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
7	esv1799218	chr19:55617408-55641955	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
8	nsv1060034	chr19:55622592-55650097	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
9	esv1850769	chr19:55622909-55641955	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs667451	EPS8L1	cis	Artery Tibial	GTEx
rs667451	NLRP11	cis	lymphoblastoid	seeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55599200-55627200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr19:55600000-55627000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr19:55606600-55627200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr19:55615000-55627200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr19:55615000-55627400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr19:55615200-55627200	Weak transcription	HSMMtube	muscle
7	chr19:55621600-55627000	Weak transcription	Osteobl	bone
8	chr19:55621800-55627200	Weak transcription	Aorta	Aorta
9	chr19:55622200-55627000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr19:55623000-55627200	Enhancers	Right Atrium	heart
11	chr19:55623200-55627000	Genic enhancers	Fetal Stomach	stomach
12	chr19:55623400-55627000	Weak transcription	Primary T cells from cord blood	blood
13	chr19:55623400-55627400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr19:55624000-55627200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr19:55624000-55627400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr19:55624000-55627600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr19:55624000-55628000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr19:55624200-55627000	Enhancers	Brain Anterior Caudate	brain
19	chr19:55624200-55627000	Enhancers	NHDF-Ad	bronchial
20	chr19:55624200-55627200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr19:55624200-55627200	Enhancers	Brain Substantia Nigra	brain
22	chr19:55624200-55627600	Enhancers	Stomach Mucosa	stomach
23	chr19:55624400-55627000	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr19:55624400-55627000	Enhancers	Brain Hippocampus Middle	brain
25	chr19:55624400-55627000	Genic enhancers	Fetal Intestine Large	intestine
26	chr19:55624400-55627000	Enhancers	Psoas Muscle	Psoas
27	chr19:55624400-55627000	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr19:55624400-55627000	Enhancers	NH-A	brain
29	chr19:55624400-55627200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr19:55624400-55627400	Enhancers	Fetal Brain Male	brain
31	chr19:55624600-55627000	Enhancers	Pancreas	Pancrea
32	chr19:55624600-55627200	Enhancers	Brain Angular Gyrus	brain
33	chr19:55624600-55627600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr19:55624800-55627000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr19:55624800-55627000	Enhancers	Adipose Nuclei	Adipose
36	chr19:55624800-55627200	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr19:55624800-55627200	Enhancers	Placenta	Placenta
38	chr19:55624800-55627400	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr19:55625000-55627000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr19:55625000-55627000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr19:55625000-55627000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr19:55625000-55627000	Enhancers	Liver	Liver
43	chr19:55625000-55627000	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr19:55625000-55627000	Weak transcription	NHEK	skin
45	chr19:55625000-55627200	Enhancers	Left Ventricle	heart
46	chr19:55625000-55627400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr19:55625000-55627800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr19:55625200-55627000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr19:55625200-55627000	Enhancers	GM12878-XiMat	blood
50	chr19:55625200-55627200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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