Variant report

Variant	rs575144
Chromosome Location	chr19:55625944-55625945
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:55625928-55625999	HUVEC	blood vessel:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:55590301..55596157-chr19:55624719..55630906,19	K562	blood:
2	chr19:55601384..55605740-chr19:55625589..55630501,6	MCF-7	breast:
3	chr19:55624933..55628932-chr19:55685116..55688802,5	K562	blood:
4	chr19:55589341..55594280-chr19:55623400..55630615,14	K562	blood:
5	chr19:55625250..55627278-chr19:55627441..55628964,2	MCF-7	breast:
6	chr19:55624850..55627348-chr19:55669347..55671433,3	K562	blood:
7	chr19:55625474..55630122-chr19:55917760..55920694,6	K562	blood:

No data

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

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1860325	0.92[CEU][hapmap];0.94[TSI][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2603697	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs667451	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs575144	EPS8L1	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55599200-55626600	Weak transcription	Fetal Kidney	kidney
2	chr19:55599200-55627200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr19:55599800-55626000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr19:55600000-55626600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr19:55600000-55627000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr19:55601400-55626400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr19:55602800-55626400	Weak transcription	Hela-S3	cervix
8	chr19:55606600-55627200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr19:55612400-55626200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr19:55614800-55626800	Weak transcription	Primary B cells from cord blood	blood
11	chr19:55615000-55627200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr19:55615000-55627400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr19:55615200-55626600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr19:55615200-55627200	Weak transcription	HSMMtube	muscle
15	chr19:55621400-55626400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr19:55621600-55627000	Weak transcription	Osteobl	bone
17	chr19:55621800-55626600	Weak transcription	HMEC	breast
18	chr19:55621800-55627200	Weak transcription	Aorta	Aorta
19	chr19:55622200-55627000	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr19:55623000-55626200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr19:55623000-55626200	Genic enhancers	Lung	lung
22	chr19:55623000-55627200	Enhancers	Right Atrium	heart
23	chr19:55623200-55627000	Genic enhancers	Fetal Stomach	stomach
24	chr19:55623400-55627000	Weak transcription	Primary T cells from cord blood	blood
25	chr19:55623400-55627400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr19:55624000-55626800	Weak transcription	Small Intestine	intestine
27	chr19:55624000-55627200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr19:55624000-55627400	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr19:55624000-55627600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr19:55624000-55628000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr19:55624200-55626000	Enhancers	H1 Cell Line	embryonic stem cell
32	chr19:55624200-55626400	Enhancers	Brain Cingulate Gyrus	brain
33	chr19:55624200-55627000	Enhancers	Brain Anterior Caudate	brain
34	chr19:55624200-55627000	Enhancers	NHDF-Ad	bronchial
35	chr19:55624200-55627200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr19:55624200-55627200	Enhancers	Brain Substantia Nigra	brain
37	chr19:55624200-55627600	Enhancers	Stomach Mucosa	stomach
38	chr19:55624400-55626400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr19:55624400-55626400	Genic enhancers	Fetal Intestine Small	intestine
40	chr19:55624400-55626400	Flanking Active TSS	Stomach Smooth Muscle	stomach
41	chr19:55624400-55626600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr19:55624400-55627000	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr19:55624400-55627000	Enhancers	Brain Hippocampus Middle	brain
44	chr19:55624400-55627000	Genic enhancers	Fetal Intestine Large	intestine
45	chr19:55624400-55627000	Enhancers	Psoas Muscle	Psoas
46	chr19:55624400-55627000	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr19:55624400-55627000	Enhancers	NH-A	brain
48	chr19:55624400-55627200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr19:55624400-55627400	Enhancers	Fetal Brain Male	brain
50	chr19:55624600-55626000	Enhancers	Colonic Mucosa	Colon

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