Variant report

Variant	rs34323725
Chromosome Location	chr14:81743718-81743719
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	POLR2A	chr14:81742698-81743801	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:81687510..81689760-chr14:81742676..81747496,4	MCF-7	breast:

Variant related genes	Relation type
STON2	TF binding region
ENSG00000165417	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs58773120	1.00[ASN][1000 genomes]
rs61126178	1.00[ASN][1000 genomes]
rs61978878	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61978889	0.82[EUR][1000 genomes]
rs61978890	0.98[AFR][1000 genomes]
rs61978891	0.95[AFR][1000 genomes]
rs8007436	1.00[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	nsv832841	chr14:81588322-81743921	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	86 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81724600-81746000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr14:81727800-81746200	Weak transcription	NHDF-Ad	bronchial
3	chr14:81729400-81752600	Weak transcription	Stomach Mucosa	stomach
4	chr14:81730600-81744000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:81733200-81753000	Weak transcription	Hela-S3	cervix
6	chr14:81734800-81744000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr14:81735600-81760200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr14:81735800-81746400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr14:81736000-81746000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr14:81736400-81746600	Weak transcription	Liver	Liver
11	chr14:81737000-81744200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr14:81737600-81748000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr14:81739200-81743800	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr14:81739600-81743800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr14:81740200-81744800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr14:81740800-81745200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr14:81741600-81744400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr14:81741800-81743800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr14:81741800-81744400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr14:81741800-81744800	Strong transcription	K562	blood
21	chr14:81741800-81768400	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr14:81742000-81743800	Genic enhancers	Fetal Muscle Leg	muscle
23	chr14:81742000-81743800	Enhancers	HepG2	liver
24	chr14:81742000-81744000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr14:81742000-81745000	Strong transcription	Fetal Muscle Trunk	muscle
26	chr14:81742200-81745000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr14:81742400-81744600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr14:81742600-81743800	Enhancers	Ovary	ovary
29	chr14:81742600-81745200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr14:81742600-81746800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr14:81742600-81747800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr14:81742600-81748200	Weak transcription	Fetal Brain Female	brain
33	chr14:81742600-81763400	Weak transcription	Psoas Muscle	Psoas
34	chr14:81742800-81745200	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr14:81743000-81744400	Genic enhancers	HMEC	breast
36	chr14:81743000-81744800	Strong transcription	H1 Cell Line	embryonic stem cell
37	chr14:81743000-81744800	Strong transcription	Placenta	Placenta
38	chr14:81743000-81745000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr14:81743000-81745000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr14:81743000-81746800	Weak transcription	Brain Germinal Matrix	brain
41	chr14:81743200-81744200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr14:81743200-81744400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr14:81743200-81744800	Weak transcription	Brain Cingulate Gyrus	brain
44	chr14:81743200-81745000	Strong transcription	Fetal Intestine Small	intestine
45	chr14:81743200-81745000	Genic enhancers	Spleen	Spleen
46	chr14:81743200-81750200	Weak transcription	Brain Substantia Nigra	brain
47	chr14:81743400-81743800	ZNF genes & repeats	Lung	lung
48	chr14:81743400-81744200	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr14:81743400-81744200	Genic enhancers	Esophagus	oesophagus
50	chr14:81743400-81744600	Strong transcription	Gastric	stomach

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