Variant report

Variant	rs11158026
Chromosome Location	chr14:55348869-55348870
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:55348491-55348875	GM12878	blood:	n/a	n/a
2	RFX5	chr14:55348044-55349924	SK-N-SH	brain:	n/a	chr14:55349620-55349629 chr14:55349597-55349605
3	RUNX3	chr14:55348486-55349073	GM12878	blood:	n/a	n/a
4	POLR2A	chr14:55348584-55348907	GM12878	blood:	n/a	n/a
5	CTCF	chr14:55348840-55348990	GM12875	blood:	n/a	n/a
6	IRF1	chr14:55348666-55348964	K562	blood:	n/a	chr14:55348801-55348815 chr14:55348801-55348811 chr14:55348797-55348811 chr14:55348801-55348812 chr14:55348799-55348812 chr14:55348802-55348813 chr14:55348799-55348812 chr14:55348799-55348812
7	CTCF	chr14:55348826-55348895	GM10266	blood:	n/a	n/a
8	PML	chr14:55347841-55348972	GM12878	blood:	n/a	n/a
9	RAD21	chr14:55348750-55348966	GM12878	blood:	n/a	n/a
10	CTCF	chr14:55348760-55348910	AG09319	gingival:	n/a	n/a
11	CTCF	chr14:55348729-55348976	GM12878	blood:	n/a	n/a
12	TBP	chr14:55347985-55349003	GM12878	blood:	n/a	n/a
13	MTA3	chr14:55347981-55348942	GM12878	blood:	n/a	n/a
14	POLR2A	chr14:55347929-55349095	GM12878	blood:	n/a	n/a
15	CEBPB	chr14:55348698-55348933	IMR90	lung:	n/a	n/a
16	GATA3	chr14:55348797-55349833	SK-N-SH	brain:	n/a	chr14:55349576-55349589 chr14:55349578-55349588 chr14:55349573-55349594 chr14:55349578-55349587 chr14:55349575-55349591 chr14:55349580-55349587
17	GATA1	chr14:55348381-55349698	PBDE	blood:	n/a	chr14:55349576-55349589 chr14:55349578-55349588 chr14:55349573-55349594 chr14:55349578-55349587 chr14:55349575-55349591 chr14:55349580-55349587
18	BCLAF1	chr14:55347970-55348963	GM12878	blood:	n/a	chr14:55348195-55348204 chr14:55348801-55348810
19	POLR2A	chr14:55348541-55348983	GM12892	blood:	n/a	n/a
20	CTCF	chr14:55348813-55348870	Spleen_OC	spleen:	n/a	n/a
21	POLR2A	chr14:55348837-55348895	HepG2	liver:	n/a	n/a
22	RUNX3	chr14:55348676-55349078	GM12878	blood:	n/a	n/a
23	MXI1	chr14:55347981-55348944	GM12878	blood:	n/a	n/a
24	EP300	chr14:55347820-55350131	SK-N-SH	brain:	n/a	chr14:55348166-55348180 chr14:55348796-55348810 chr14:55348744-55348752
25	IRF1	chr14:55348012-55349360	K562	blood:	n/a	chr14:55348193-55348206 chr14:55348801-55348815 chr14:55348190-55348204 chr14:55348801-55348811 chr14:55348194-55348208 chr14:55348193-55348206 chr14:55348797-55348811 chr14:55348188-55348205 chr14:55348193-55348206 chr14:55349323-55349339 chr14:55348172-55348188 chr14:55348194-55348204 chr14:55348801-55348812 chr14:55348799-55348812 chr14:55348192-55348203 chr14:55348802-55348813 chr14:55348193-55348207 chr14:55348799-55348812 chr14:55348799-55348812 chr14:55348464-55348478 chr14:55348193-55348204
26	MXI1	chr14:55347817-55349899	SK-N-SH	brain:	n/a	n/a
27	ZNF143	chr14:55347988-55348916	GM12878	blood:	n/a	n/a
28	CEBPB	chr14:55348693-55348891	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:55344081..55346333-chr14:55348656..55350611,2	K562	blood:
2	chr14:55348331..55350043-chr14:55361093..55363707,2	K562	blood:

Variant related genes	Relation type
MIR4308	TF binding region
ENSG00000265432	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10133650	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10136545	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10136972	0.84[EUR][1000 genomes]
rs10137071	0.84[EUR][1000 genomes]
rs12323905	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2149482	0.84[EUR][1000 genomes]
rs2183081	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2183082	0.83[EUR][1000 genomes]
rs2183084	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28417208	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3759665	0.84[EUR][1000 genomes]
rs3783640	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7147286	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs7155501	0.90[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs8018355	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8019824	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530042	chr14:55208170-55386966	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv932970	chr14:55326559-55532749	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Parkinson's disease	25064009	GWAS catalog

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55345400-55354800	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr14:55345400-55368200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:55347600-55349000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr14:55347600-55349200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr14:55347600-55349400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr14:55347600-55349400	Flanking Active TSS	Dnd41	blood
7	chr14:55347800-55349000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr14:55347800-55349000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
9	chr14:55347800-55349000	Flanking Active TSS	Primary B cells from peripheral blood	blood
10	chr14:55347800-55349000	Flanking Active TSS	Primary T cells from cord blood	blood
11	chr14:55347800-55349000	Active TSS	Aorta	Aorta
12	chr14:55347800-55349000	Active TSS	Psoas Muscle	Psoas
13	chr14:55347800-55349000	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr14:55347800-55349000	Active TSS	Thymus	Thymus
15	chr14:55347800-55349000	Flanking Active TSS	HMEC	breast
16	chr14:55347800-55349200	Active TSS	Rectal Smooth Muscle	rectum
17	chr14:55347800-55349200	Flanking Active TSS	NHEK	skin
18	chr14:55347800-55349600	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr14:55348000-55349000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr14:55348000-55349000	Flanking Active TSS	Primary B cells from cord blood	blood
21	chr14:55348000-55349000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr14:55348000-55349000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
23	chr14:55348000-55349000	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr14:55348000-55349000	Active TSS	Brain Angular Gyrus	brain
25	chr14:55348000-55349000	Active TSS	Brain Anterior Caudate	brain
26	chr14:55348000-55349000	Active TSS	Brain Cingulate Gyrus	brain
27	chr14:55348000-55349000	Active TSS	Colon Smooth Muscle	Colon
28	chr14:55348000-55349000	Active TSS	Fetal Intestine Small	intestine
29	chr14:55348000-55349000	Active TSS	Ovary	ovary
30	chr14:55348000-55349000	Active TSS	Stomach Smooth Muscle	stomach
31	chr14:55348000-55349000	Active TSS	A549	lung
32	chr14:55348000-55349200	Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr14:55348000-55349200	Active TSS	Brain Hippocampus Middle	brain
34	chr14:55348000-55349200	Flanking Active TSS	Osteobl	bone
35	chr14:55348000-55349600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr14:55348000-55349600	Enhancers	HepG2	liver
37	chr14:55348000-55349800	Flanking Active TSS	Fetal Lung	lung
38	chr14:55348000-55355000	Weak transcription	Small Intestine	intestine
39	chr14:55348200-55349000	Enhancers	H9 Cell Line	embryonic stem cell
40	chr14:55348200-55349000	Active TSS	Primary T helper naive cells from peripheral blood	blood
41	chr14:55348200-55349000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
42	chr14:55348200-55349000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr14:55348200-55349200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
44	chr14:55348400-55349000	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr14:55348400-55349000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
46	chr14:55348400-55349000	Weak transcription	Placenta	Placenta
47	chr14:55348400-55349200	Flanking Active TSS	HUVEC	blood vessel
48	chr14:55348400-55349400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr14:55348400-55356000	Weak transcription	Lung	lung
50	chr14:55348400-55368200	Weak transcription	Gastric	stomach

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