Variant report

Variant	rs12406363
Chromosome Location	chr1:155215262-155215263
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:155212719-155215270	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr1:155213985-155215334	U87	brain:	n/a	n/a
3	MAX	chr1:155213471-155215304	A549	lung:	n/a	n/a
4	RCOR1	chr1:155212876-155215325	IMR90	lung:	n/a	n/a
5	MAZ	chr1:155213721-155215264	IMR90	lung:	n/a	n/a
6	POLR2A	chr1:155214011-155215328	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr1:155212595-155215381	SK-N-MC	brain:	n/a	n/a
8	REST	chr1:155213881-155215331	H1-neurons	neurons:	n/a	n/a
9	POLR2A	chr1:155213991-155215334	U87	brain:	n/a	n/a
10	MYC	chr1:155213666-155215283	A549	lung:	n/a	n/a
11	MXI1	chr1:155213495-155215277	IMR90	lung:	n/a	n/a
12	MAX	chr1:155213628-155215274	A549	lung:	n/a	n/a
13	POLR2A	chr1:155213452-155215306	HUVEC	blood vessel:	n/a	n/a

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:155200126..155202062-chr1:155213409..155215894,2	MCF-7	breast:
2	chr1:155209079..155212795-chr1:155212935..155216540,4	MCF-7	breast:
3	chr1:155213260..155215992-chr1:155291631..155293665,2	K562	blood:
4	chr1:155213691..155215819-chr1:155247024..155248547,2	MCF-7	breast:
5	chr1:155213237..155217995-chr1:155221685..155226391,8	MCF-7	breast:
6	chr1:155214835..155216335-chr3:73158245..73160133,2	K562	blood:
7	chr1:155176888..155180042-chr1:155214260..155216336,5	K562	blood:
8	chr1:155212931..155218657-chr1:155240962..155244485,5	MCF-7	breast:
9	chr1:155174858..155180302-chr1:155209102..155215747,8	MCF-7	breast:
10	chr1:155213177..155216583-chr1:155242889..155246560,4	K562	blood:
11	chr1:155213191..155216225-chr1:155230341..155232984,3	MCF-7	breast:
12	chr1:155214835..155216335-chr17:41464308..41466176,2	K562	blood:
13	chr1:155212049..155215843-chr1:155293307..155296856,5	MCF-7	breast:
14	chr1:155213102..155215658-chr1:155292526..155295305,4	MCF-7	breast:
15	chr1:155213005..155216511-chr1:155292470..155296220,4	K562	blood:
16	chr1:155214449..155216184-chr1:155237561..155239532,2	MCF-7	breast:
17	chr1:155214835..155216355-chr17:41464413..41466647,4	MCF-7	breast:
18	chr1:155146543..155149271-chr1:155213227..155215655,2	K562	blood:
19	chr1:155176699..155181010-chr1:155210436..155216018,7	K562	blood:
20	chr1:155207800..155212678-chr1:155214121..155217855,6	K562	blood:
21	chr1:155172457..155174074-chr1:155214822..155216334,2	MCF-7	breast:
22	chr1:155213696..155217007-chr1:155289069..155291862,3	K562	blood:
23	chr1:155195600..155203152-chr1:155209955..155216515,9	MCF-7	breast:
24	chr1:155209487..155212728-chr1:155212760..155217156,9	MCF-7	breast:
25	chr1:155195599..155199380-chr1:155211353..155216703,7	MCF-7	breast:
26	chr1:155195406..155199356-chr1:155210414..155216260,10	K562	blood:
27	chr1:155209727..155212678-chr1:155212773..155217086,5	K562	blood:
28	chr1:155214835..155216335-chr17:41398392..41402293,4	K562	blood:
29	chr1:155211690..155216212-chr1:155231766..155235735,5	MCF-7	breast:

No data

Variant related genes	Relation type
GBA	TF binding region
ENSG00000236675	Chromatin interaction
ENSG00000176444	Chromatin interaction
ENSG00000169231	Chromatin interaction
ENSG00000160753	Chromatin interaction
ENSG00000163462	Chromatin interaction
ENSG00000160767	Chromatin interaction
ENSG00000225855	Chromatin interaction
ENSG00000188825	Chromatin interaction
ENSG00000160766	Chromatin interaction
ENSG00000143630	Chromatin interaction
ENSG00000160752	Chromatin interaction
ENSG00000173171	Chromatin interaction
ENSG00000177628	Chromatin interaction
ENSG00000116521	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1045253	0.84[ASN][1000 genomes]
rs10796940	0.84[ASN][1000 genomes]
rs10908459	0.85[ASN][1000 genomes]
rs11264343	0.84[ASN][1000 genomes]
rs11264345	0.84[ASN][1000 genomes]
rs11264351	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs12034326	0.86[ASN][1000 genomes]
rs12407919	0.84[ASN][1000 genomes]
rs12723761	0.83[ASN][1000 genomes]
rs1546818	0.80[ASN][1000 genomes]
rs1800438	0.84[ASN][1000 genomes]
rs1800442	0.84[ASN][1000 genomes]
rs1807042	0.81[ASN][1000 genomes]
rs2009578	0.84[ASN][1000 genomes]
rs2075569	0.84[ASN][1000 genomes]
rs3754485	0.84[ASN][1000 genomes]
rs3762272	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs3768566	0.84[ASN][1000 genomes]
rs4043	0.84[ASN][1000 genomes]
rs56310840	0.84[ASN][1000 genomes]
rs59062514	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs734073	0.80[ASN][1000 genomes]
rs762488	0.84[ASN][1000 genomes]
rs9628662	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer 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	575 gene(s)	inside rSNPs	diseases
2	esv1823746	chr1:154965207-155231904	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer 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	469 gene(s)	inside rSNPs	diseases
3	nsv831614	chr1:155094978-155275031	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer 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	434 gene(s)	inside rSNPs	diseases
4	esv2757756	chr1:155094978-155314807	Bivalent Enhancer Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	452 gene(s)	inside rSNPs	diseases
5	esv2758971	chr1:155094978-155314807	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers 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	452 gene(s)	inside rSNPs	diseases
6	nsv470741	chr1:155115260-155230131	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	381 gene(s)	inside rSNPs	diseases
7	nsv872457	chr1:155135335-155310443	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	407 gene(s)	inside rSNPs	diseases
8	nsv831625	chr1:155145634-155313409	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	407 gene(s)	inside rSNPs	diseases
9	nsv529709	chr1:155154933-155757219	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
10	esv13606	chr1:155180489-155221243	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
11	nsv1008748	chr1:155189148-155230610	Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
12	nsv1011773	chr1:155189148-155234821	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
13	nsv947198	chr1:155206997-155226440	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	35 gene(s)	inside rSNPs	diseases
14	esv1832331	chr1:155213136-155271366	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
15	esv1826485	chr1:155214478-155264270	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155213200-155215400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr1:155213400-155215400	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr1:155213600-155215400	Active TSS	H1 Cell Line	embryonic stem cell
4	chr1:155213800-155215400	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr1:155214800-155215400	Flanking Active TSS	Fetal Intestine Large	intestine
6	chr1:155215000-155215400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:155215000-155215400	Enhancers	Fetal Thymus	thymus
8	chr1:155215000-155215600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:155215000-155215600	Enhancers	Fetal Brain Male	brain
10	chr1:155215000-155216200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:155215000-155217000	Weak transcription	Lung	lung
12	chr1:155215000-155217000	Weak transcription	Ovary	ovary
13	chr1:155215000-155217200	Weak transcription	Aorta	Aorta
14	chr1:155215000-155217200	Weak transcription	Gastric	stomach
15	chr1:155215000-155217200	Weak transcription	HepG2	liver
16	chr1:155215000-155217400	Weak transcription	Thymus	Thymus
17	chr1:155215000-155220200	Weak transcription	Small Intestine	intestine
18	chr1:155215200-155215400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:155215200-155215400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:155215200-155215400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
21	chr1:155215200-155215400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:155215200-155215400	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr1:155215200-155215400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr1:155215200-155215400	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr1:155215200-155215400	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr1:155215200-155215400	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr1:155215200-155215400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:155215200-155215400	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr1:155215200-155215400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:155215200-155215400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:155215200-155215400	Enhancers	Duodenum Mucosa	Duodenum
32	chr1:155215200-155215400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr1:155215200-155215400	Enhancers	Fetal Muscle Trunk	muscle
34	chr1:155215200-155215400	Enhancers	Right Ventricle	heart
35	chr1:155215200-155215400	Enhancers	Stomach Smooth Muscle	stomach
36	chr1:155215200-155215400	Enhancers	Dnd41	blood
37	chr1:155215200-155215400	Enhancers	Osteobl	bone
38	chr1:155215200-155215600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
39	chr1:155215200-155215600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr1:155215200-155215600	Enhancers	Primary T cells fromperipheralblood	blood
41	chr1:155215200-155215600	Enhancers	Colon Smooth Muscle	Colon
42	chr1:155215200-155215600	Enhancers	Fetal Intestine Small	intestine
43	chr1:155215200-155215600	Enhancers	Placenta	Placenta
44	chr1:155215200-155215600	Enhancers	Fetal Stomach	stomach
45	chr1:155215200-155215600	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr1:155215200-155215800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:155215200-155216000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr1:155215200-155216000	Weak transcription	Fetal Muscle Leg	muscle
49	chr1:155215200-155216000	Weak transcription	A549	lung
50	chr1:155215200-155216200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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