Variant report

Variant	rs4899307
Chromosome Location	chr14:70073524-70073525
allele	A/G/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	EP300	chr14:70073109-70073570	HepG2	liver:	n/a	n/a
2	NR2F2	chr14:70072378-70073577	MCF-7	breast:	n/a	chr14:70073138-70073153

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:70071959..70073623-chr14:70086065..70088402,2	K562	blood:

Variant related genes	Relation type
KIAA0247	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1275741	0.82[AFR][1000 genomes]
rs1275743	0.82[AFR][1000 genomes]
rs1957366	0.88[AFR][1000 genomes]
rs2181051	0.82[AFR][1000 genomes]
rs4902740	0.94[AFR][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:54 , 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	chr14:70071800-70074400	Enhancers	Fetal Intestine Large	intestine
13	chr14:70071800-70074400	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr14:70072000-70075000	Enhancers	Liver	Liver
15	chr14:70072200-70073600	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr14:70072200-70074200	Enhancers	Hela-S3	cervix
17	chr14:70072200-70074400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:70072200-70074400	Enhancers	Colonic Mucosa	Colon
19	chr14:70072200-70074400	Enhancers	Fetal Intestine Small	intestine
20	chr14:70072400-70073600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr14:70072400-70074200	Enhancers	Duodenum Mucosa	Duodenum
22	chr14:70072400-70074200	Enhancers	A549	lung
23	chr14:70072400-70074400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr14:70072400-70075000	Enhancers	Stomach Mucosa	stomach
25	chr14:70072600-70073800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr14:70072600-70074400	Enhancers	Adipose Nuclei	Adipose
27	chr14:70072600-70077000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr14:70072800-70073600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:70072800-70073600	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr14:70072800-70073600	Flanking Active TSS	HepG2	liver
31	chr14:70072800-70075000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr14:70073000-70073600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr14:70073000-70073600	Enhancers	Lung	lung
34	chr14:70073000-70076600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr14:70073000-70076800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr14:70073000-70076800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr14:70073200-70074000	Enhancers	Fetal Lung	lung
38	chr14:70073200-70074200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr14:70073200-70074400	Enhancers	Left Ventricle	heart
40	chr14:70073200-70076800	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr14:70073200-70077000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr14:70073400-70073600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr14:70073400-70074000	Weak transcription	Gastric	stomach
44	chr14:70073400-70074200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr14:70073400-70074400	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr14:70073400-70076800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr14:70073400-70076800	Weak transcription	Brain Hippocampus Middle	brain
48	chr14:70073400-70076800	Weak transcription	Placenta	Placenta
49	chr14:70073400-70076800	Weak transcription	GM12878-XiMat	blood
50	chr14:70073400-70077000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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