Variant report

Variant	rs4151419
Chromosome Location	chr13:48879299-48879300
allele	A/G
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	MAZ	chr13:48877260-48879409	GM12878	blood:	n/a	chr13:48878320-48878330
2	POLR2A	chr13:48876411-48880767	GM12891	blood:	n/a	n/a
3	POLR2A	chr13:48877175-48879540	GM19193	blood:	n/a	n/a
4	POLR2A	chr13:48876695-48879724	GM19099	blood:	n/a	n/a
5	POLR2A	chr13:48876484-48879319	GM12878	blood:	n/a	n/a
6	POLR2A	chr13:48877212-48879463	GM12878	blood:	n/a	n/a
7	SPI1	chr13:48878237-48879345	GM12878	blood:	n/a	chr13:48878836-48878845
8	POLR2A	chr13:48877160-48879349	GM18505	blood:	n/a	n/a
9	CHD1	chr13:48877624-48879363	GM12878	blood:	n/a	chr13:48878297-48878307
10	CHD1	chr13:48876892-48879464	IMR90	lung:	n/a	chr13:48878297-48878307
11	ZNF384	chr13:48878612-48879324	GM12878	blood:	n/a	n/a
12	FAM48A	chr13:48879146-48879318	GM12878	blood:	n/a	n/a
13	ZNF263	chr13:48877205-48879302	HEK293-T-REx	kidney:	n/a	chr13:48878299-48878308
14	MXI1	chr13:48878438-48879360	GM12878	blood:	n/a	n/a
15	POLR2A	chr13:48877019-48879392	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:48806118..48810225-chr13:48876144..48879386,12	MCF-7	breast:
2	chr13:48806625..48809806-chr13:48877426..48879405,3	K562	blood:
3	chr13:48879143..48880782-chr13:48887073..48889128,2	K562	blood:

Variant related genes	Relation type
LINC00441	TF binding region
ENSG00000136156	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs3092863	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4151432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4151495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4151545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4151581	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4151627	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7320277	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7327171	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7329387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7333971	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7982092	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7982457	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8000807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8002958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9331979	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9331993	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9332001	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9332059	1.00[AFR][1000 genomes]
rs9332073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9332267	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9332279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9332286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9332306	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3437840	chr13:48876976-48879524	Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 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	chr13:48876600-48879400	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr13:48876800-48879400	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr13:48876800-48879400	Active TSS	Colonic Mucosa	Colon
4	chr13:48876800-48879400	Active TSS	A549	lung
5	chr13:48876800-48879800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr13:48876800-48880000	Active TSS	K562	blood
7	chr13:48876800-48880200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr13:48877000-48879600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr13:48877000-48879600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr13:48877000-48879600	Active TSS	Psoas Muscle	Psoas
11	chr13:48877000-48879600	Active TSS	Right Ventricle	heart
12	chr13:48877000-48879800	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr13:48877000-48879800	Active TSS	Fetal Muscle Leg	muscle
14	chr13:48877000-48879800	Active TSS	Right Atrium	heart
15	chr13:48877000-48880000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr13:48877000-48880000	Active TSS	HSMMtube	muscle
17	chr13:48877000-48880200	Active TSS	Muscle Satellite Cultured Cells	--
18	chr13:48877000-48880200	Active TSS	NHLF	lung
19	chr13:48877200-48879400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
20	chr13:48877200-48879400	Active TSS	Brain Substantia Nigra	brain
21	chr13:48877200-48879400	Active TSS	Fetal Muscle Trunk	muscle
22	chr13:48877200-48879400	Active TSS	Left Ventricle	heart
23	chr13:48877200-48879400	Active TSS	Sigmoid Colon	Sigmoid Colon
24	chr13:48877200-48879600	Active TSS	Ovary	ovary
25	chr13:48877200-48879600	Active TSS	HSMM	muscle
26	chr13:48877200-48879800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr13:48877200-48879800	Active TSS	NHDF-Ad	bronchial
28	chr13:48877200-48880000	Active TSS	Aorta	Aorta
29	chr13:48877200-48880200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr13:48877400-48879400	Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr13:48877400-48879600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr13:48877400-48879600	Active TSS	HMEC	breast
33	chr13:48877400-48879800	Active TSS	Hela-S3	cervix
34	chr13:48877400-48880000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr13:48877600-48879400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
36	chr13:48878200-48879400	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr13:48878400-48880000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr13:48878400-48880400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr13:48878600-48879400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr13:48878600-48879400	Flanking Active TSS	Liver	Liver
41	chr13:48878600-48879400	Flanking Active TSS	Brain Angular Gyrus	brain
42	chr13:48878600-48879600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr13:48878800-48879400	Flanking Active TSS	Primary T cells from cord blood	blood
44	chr13:48878800-48879400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr13:48878800-48879400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr13:48878800-48879400	Flanking Active TSS	Brain Anterior Caudate	brain
47	chr13:48878800-48879400	Flanking Active TSS	Brain Hippocampus Middle	brain
48	chr13:48878800-48879400	Flanking Active TSS	Duodenum Mucosa	Duodenum
49	chr13:48878800-48879400	Flanking Active TSS	Fetal Intestine Large	intestine
50	chr13:48878800-48879400	Flanking Active TSS	Fetal Lung	lung

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