Variant report

Variant	rs1044126
Chromosome Location	chr14:68213792-68213793
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	BATF	chr14:68213662-68213922	GM12878	blood:	n/a	n/a
2	POLR2A	chr14:68213704-68213847	GM12878	blood:	n/a	n/a
3	CREB1	chr14:68213593-68214155	GM12878	blood:	n/a	n/a
4	NFYB	chr14:68213697-68213955	GM12878	blood:	n/a	n/a
5	BATF	chr14:68213615-68213928	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000252792	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11158687	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11158688	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11849620	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12879105	0.93[EUR][1000 genomes]
rs17782775	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1955468	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2295111	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56233923	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56412443	0.88[AMR][1000 genomes]
rs61986978	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7149133	0.82[ASN][1000 genomes]
rs742866	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042536	chr14:68136913-68343198	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv542122	chr14:68136913-68343198	Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1054697	chr14:68202004-68345982	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68189000-68218800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr14:68196200-68219000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:68196800-68214600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr14:68197200-68214800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr14:68201400-68214600	Weak transcription	Brain Substantia Nigra	brain
6	chr14:68201600-68214600	Weak transcription	Spleen	Spleen
7	chr14:68202800-68214000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr14:68202800-68215000	Weak transcription	Right Ventricle	heart
9	chr14:68202800-68230800	Weak transcription	Right Atrium	heart
10	chr14:68204000-68219600	Weak transcription	Small Intestine	intestine
11	chr14:68204400-68214800	Weak transcription	Gastric	stomach
12	chr14:68206000-68213800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr14:68206000-68213800	Weak transcription	Liver	Liver
14	chr14:68206000-68214000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr14:68206000-68214600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr14:68206000-68214800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr14:68206000-68214800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr14:68206000-68214800	Weak transcription	Brain Anterior Caudate	brain
19	chr14:68206000-68214800	Weak transcription	Esophagus	oesophagus
20	chr14:68206000-68214800	Weak transcription	HSMMtube	muscle
21	chr14:68206000-68215000	Weak transcription	Colonic Mucosa	Colon
22	chr14:68206000-68216200	Weak transcription	NH-A	brain
23	chr14:68206200-68251000	Weak transcription	K562	blood
24	chr14:68206400-68214600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr14:68206400-68214600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr14:68206400-68214800	Weak transcription	HMEC	breast
27	chr14:68206400-68216800	Weak transcription	NHEK	skin
28	chr14:68206600-68214600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr14:68206600-68214600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr14:68206600-68214600	Weak transcription	Colon Smooth Muscle	Colon
31	chr14:68206600-68214600	Weak transcription	Fetal Intestine Small	intestine
32	chr14:68206600-68214600	Weak transcription	NHLF	lung
33	chr14:68206600-68215800	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr14:68206800-68215000	Weak transcription	Hela-S3	cervix
35	chr14:68206800-68217600	Weak transcription	HepG2	liver
36	chr14:68207000-68214800	Weak transcription	A549	lung
37	chr14:68208000-68214800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr14:68209800-68214800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr14:68210000-68214000	Weak transcription	Brain Cingulate Gyrus	brain
40	chr14:68210200-68213800	Weak transcription	Lung	lung
41	chr14:68210200-68214000	Weak transcription	Brain Germinal Matrix	brain
42	chr14:68210600-68214000	Weak transcription	Aorta	Aorta
43	chr14:68210800-68214000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr14:68210800-68214600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr14:68210800-68217600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr14:68211000-68214600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr14:68211000-68217200	Weak transcription	Fetal Kidney	kidney
48	chr14:68211200-68214600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr14:68211200-68214600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr14:68211200-68214800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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