Variant report

Variant	rs55780993
Chromosome Location	chr14:70074415-70074416
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	FOS	chr14:70074161-70074499	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr14:70074280-70074480	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
KIAA0247	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1275745	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1275746	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1275817	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1295826	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17107161	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1743379	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1999722	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2210803	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34686932	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4902745	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs60716885	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61980729	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61980730	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6573900	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7151003	0.82[ASN][1000 genomes]
rs7157093	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs945308	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs945309	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs945310	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs945312	0.86[AMR][1000 genomes];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	nsv1049280	chr14:70036804-70172630	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv542124	chr14:70036804-70172630	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70060400-70076600	Weak transcription	Brain Angular Gyrus	brain
2	chr14:70060800-70076800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr14:70067200-70077000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr14:70067400-70077000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr14:70067600-70076600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:70069000-70076800	Weak transcription	Right Atrium	heart
7	chr14:70070400-70076800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr14:70070600-70076800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr14:70070800-70076800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr14:70071400-70076800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr14:70071600-70077000	Weak transcription	Brain Anterior Caudate	brain
12	chr14:70072000-70075000	Enhancers	Liver	Liver
13	chr14:70072400-70075000	Enhancers	Stomach Mucosa	stomach
14	chr14:70072600-70077000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr14:70072800-70075000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr14:70073000-70076600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr14:70073000-70076800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr14:70073000-70076800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr14:70073200-70076800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr14:70073200-70077000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr14:70073400-70076800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr14:70073400-70076800	Weak transcription	Brain Hippocampus Middle	brain
23	chr14:70073400-70076800	Weak transcription	Placenta	Placenta
24	chr14:70073400-70076800	Weak transcription	GM12878-XiMat	blood
25	chr14:70073400-70077000	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr14:70073400-70077000	Weak transcription	Esophagus	oesophagus
27	chr14:70073400-70077400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr14:70073400-70077400	Weak transcription	Small Intestine	intestine
29	chr14:70073400-70077400	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr14:70073600-70076200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr14:70073600-70076800	Weak transcription	NHLF	lung
32	chr14:70073600-70077200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:70073600-70077200	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr14:70074000-70077000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr14:70074000-70077000	Weak transcription	Fetal Lung	lung
36	chr14:70074200-70074600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr14:70074200-70075600	Weak transcription	Fetal Kidney	kidney
38	chr14:70074200-70076600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr14:70074200-70076600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr14:70074200-70076800	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr14:70074200-70077000	Weak transcription	Duodenum Mucosa	Duodenum
42	chr14:70074200-70077000	Weak transcription	Lung	lung
43	chr14:70074200-70077000	Weak transcription	Hela-S3	cervix
44	chr14:70074200-70077200	Weak transcription	A549	lung
45	chr14:70074200-70077400	Weak transcription	Gastric	stomach
46	chr14:70074400-70076000	Weak transcription	HepG2	liver
47	chr14:70074400-70076600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr14:70074400-70076600	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr14:70074400-70076800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr14:70074400-70076800	Weak transcription	Adipose Nuclei	Adipose

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