Variant report

Variant	rs13116402
Chromosome Location	chr4:15429967-15429968
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:15429967-15430017	Hepatocyte	liver:	n/a
2	chr4:15429967-15430017	NHBE	bronchial:	n/a
3	chr4:15429967-15430017	LNCaP	prostate:	n/a
4	chr4:15429967-15430017	HEK293	kidney:	embryo
5	chr4:15429967-15430017	HRPEpiC	eye:	n/a
6	chr4:15429967-15430017	BE2_C	brain:	n/a
7	chr4:15429967-15430017	U87	brain:	n/a
8	chr4:15429967-15430017	AG04450	lung:	fetal
9	chr4:15429967-15430017	NT2-D1	testis:	n/a
10	chr4:15429967-15430017	A549	lung:	n/a
11	chr4:15429967-15430017	HEEpiC	esophagus:	n/a
12	chr4:15429967-15430017	SK-N-SH	brain:	n/a
13	chr4:15429967-15430017	NH-A	brain:	n/a
14	chr4:15429967-15430017	HCF	heart:	n/a
15	chr4:15429967-15430017	SKMC	muscle:	n/a
16	chr4:15429967-15430017	AG10803	skin:	n/a
17	chr4:15429967-15430017	GM19239	blood:	n/a
18	chr4:15429967-15430017	HAEpiC	amniotic membrane:	n/a
19	chr4:15429967-15430017	T-47D	breast:	n/a
20	chr4:15429967-15430017	IMR90	lung:	fetal
21	chr4:15429967-15430017	GM12892	blood:	n/a
22	chr4:15429967-15430017	Caco-2	colon:	n/a
23	chr4:15429967-15430017	HCPEpiC	choroid plexus:	n/a
24	chr4:15429967-15430017	AG09309	skin:	n/a
25	chr4:15429967-15430017	RPTEC	kidney:	n/a
26	chr4:15429967-15430017	MCF10A-Er-Src	breast:	n/a
27	chr4:15429967-15430017	PrEC	prostate:	n/a
28	chr4:15429967-15430017	GM12878	blood:	n/a
29	chr4:15429967-15430017	PANC-1	pancreas:	n/a
30	chr4:15429967-15430017	H1-hESC	embryonic stem cell:	embryo
31	chr4:15429967-15430017	HIPEpiC	eye:	n/a
32	chr4:15429967-15430017	AG09319	gingival:	n/a
33	chr4:15429967-15430017	PFSK-1	brain:	n/a
34	chr4:15429967-15430017	HepG2	liver:	n/a
35	chr4:15429967-15430017	HRE	kidney:	n/a
36	chr4:15429967-15430017	HL-60	blood:	n/a
37	chr4:15429967-15430017	BJ	skin:	n/a
38	chr4:15429967-15430017	GM06990	blood:	n/a
39	chr4:15429967-15430017	HMEC	breast:	n/a
40	chr4:15429967-15430017	SAEC	small airway:	n/a
41	chr4:15429967-15430017	MCF-7	breast:	n/a
42	chr4:15429967-15430017	NHDF-neo	bronchial:	n/a
43	chr4:15429967-15430017	AoSMC	blood vessel:	n/a
44	chr4:15429967-15430017	HRCEpiC	kidney:	n/a
45	chr4:15429967-15430017	Jurkat	blood:	n/a
46	chr4:15429967-15430017	SK-N-SH_RA	brain:	n/a
47	chr4:15429967-15430017	HPAEpiC	pulmonary alveolar:	n/a
48	chr4:15429967-15430017	ProgFib	skin:	n/a
49	chr4:15429967-15430017	HCM	heart:	n/a
50	chr4:15429967-15430017	Hela-S3	cervix:	n/a

No data

Variant related genes	Relation type
ENSG00000249252	CpG island

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11735738	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13110520	0.91[ASN][1000 genomes]
rs13114920	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13116208	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2192356	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][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	esv3448986	chr4:14928802-15805558	Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15427000-15431400	Active TSS	Aorta	Aorta
2	chr4:15428000-15430000	Weak transcription	Ovary	ovary
3	chr4:15428000-15430200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:15428000-15430200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:15428400-15430400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr4:15428600-15430000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr4:15428600-15430400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr4:15428600-15430600	Enhancers	NHDF-Ad	bronchial
9	chr4:15428600-15430800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr4:15428600-15430800	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr4:15428600-15431400	Enhancers	Adipose Nuclei	Adipose
12	chr4:15428800-15430800	Enhancers	Fetal Stomach	stomach
13	chr4:15428800-15435400	Weak transcription	NHEK	skin
14	chr4:15429000-15430600	Enhancers	Colon Smooth Muscle	Colon
15	chr4:15429000-15430600	Enhancers	Fetal Lung	lung
16	chr4:15429000-15430800	Enhancers	Brain Cingulate Gyrus	brain
17	chr4:15429200-15430800	Enhancers	Brain Substantia Nigra	brain
18	chr4:15429600-15430600	Enhancers	Brain Anterior Caudate	brain
19	chr4:15429600-15430600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr4:15429600-15430600	Enhancers	Fetal Muscle Leg	muscle
21	chr4:15429600-15430800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:15429600-15430800	Enhancers	Brain Germinal Matrix	brain
23	chr4:15429600-15430800	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr4:15429800-15430000	Flanking Active TSS	Rectal Smooth Muscle	rectum
25	chr4:15429800-15430000	Flanking Active TSS	Stomach Smooth Muscle	stomach
26	chr4:15429800-15430400	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr4:15429800-15430400	Enhancers	Small Intestine	intestine
28	chr4:15429800-15430800	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr4:15429800-15435200	Weak transcription	Osteobl	bone

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