Variant report

Variant	rs7494717
Chromosome Location	chr14:105962369-105962370
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	MYBL2	chr14:105962178-105963202	HepG2	liver:	n/a	n/a
2	POLR2A	chr14:105961469-105964027	HepG2	liver:	n/a	n/a
3	HEY1	chr14:105961804-105962433	HepG2	liver:	n/a	n/a
4	HNF4A	chr14:105962080-105963441	HepG2	liver:	n/a	chr14:105963314-105963326 chr14:105962606-105962618 chr14:105962606-105962618
5	POLR2A	chr14:105960343-105964720	HepG2	liver:	n/a	n/a
6	POLR2A	chr14:105961655-105963776	HepG2	liver:	n/a	n/a
7	POLR2A	chr14:105961352-105962449	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr14:105962075-105962422	GM12892	blood:	n/a	n/a
9	HEY1	chr14:105961996-105963732	HepG2	liver:	n/a	chr14:105963569-105963584
10	POLR2A	chr14:105961359-105967710	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr14:105961341-105962461	GM12892	blood:	n/a	n/a
12	POLR2A	chr14:105961613-105971158	A549	lung:	n/a	n/a

Variant related genes	Relation type
C14orf80	TF binding region

Extended variants
information (count: 2 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs7494350	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][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	nsv530813	chr14:105607701-106453697	Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105957800-105971800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:105958000-105968600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr14:105958200-105962600	Weak transcription	Small Intestine	intestine
4	chr14:105958200-105966400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr14:105958200-105969200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr14:105958400-105964600	Weak transcription	Fetal Intestine Large	intestine
7	chr14:105958400-105968600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr14:105958400-105973800	Weak transcription	Primary T cells from cord blood	blood
9	chr14:105958600-105963600	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr14:105958600-105964000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr14:105958600-105964600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr14:105958600-105964600	Weak transcription	Brain Angular Gyrus	brain
13	chr14:105958600-105964600	Weak transcription	Brain Anterior Caudate	brain
14	chr14:105958600-105965200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr14:105958600-105965400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:105958600-105965400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr14:105958600-105965800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr14:105958600-105966000	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr14:105958600-105966600	Weak transcription	Gastric	stomach
20	chr14:105958600-105967000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr14:105958600-105967800	Weak transcription	Stomach Mucosa	stomach
22	chr14:105958800-105962400	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr14:105958800-105963600	Weak transcription	Placenta	Placenta
24	chr14:105958800-105964000	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr14:105958800-105964200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr14:105958800-105964600	Weak transcription	Brain Hippocampus Middle	brain
27	chr14:105958800-105964800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr14:105958800-105966400	Weak transcription	Fetal Thymus	thymus
29	chr14:105958800-105966600	Strong transcription	Fetal Stomach	stomach
30	chr14:105958800-105967200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr14:105958800-105967800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr14:105958800-105968000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr14:105958800-105968600	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr14:105959000-105964000	Weak transcription	Brain Cingulate Gyrus	brain
35	chr14:105959000-105964000	Weak transcription	Colonic Mucosa	Colon
36	chr14:105959000-105967200	Weak transcription	Pancreas	Pancrea
37	chr14:105959200-105963200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr14:105959200-105963200	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr14:105959200-105965000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr14:105959200-105965200	Weak transcription	Brain Germinal Matrix	brain
41	chr14:105959200-105965400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr14:105959400-105965600	Weak transcription	NHEK	skin
43	chr14:105959400-105966000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr14:105959400-105966600	Weak transcription	Hela-S3	cervix
45	chr14:105959400-105967200	Weak transcription	Duodenum Mucosa	Duodenum
46	chr14:105959400-105967200	Weak transcription	Stomach Smooth Muscle	stomach
47	chr14:105959600-105964200	Weak transcription	NHLF	lung
48	chr14:105959600-105964800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr14:105959800-105964400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr14:105960000-105963200	Weak transcription	Adipose Nuclei	Adipose

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