Variant report

Variant	rs560300312
Chromosome Location	chr14:69929733-69929734
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3396933	chr14:69906914-70001258	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1048882	chr14:69920881-69976694	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1052107	chr14:69922552-69969297	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1039230	chr14:69922552-69972002	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1039192	chr14:69922552-69976694	Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv456335	chr14:69928307-69971598	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	nsv564967	chr14:69928307-69971598	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69892200-69931400	Weak transcription	K562	blood
2	chr14:69903600-69937800	Weak transcription	Psoas Muscle	Psoas
3	chr14:69909000-69933200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr14:69915800-69932600	Weak transcription	Fetal Heart	heart
5	chr14:69919800-69929800	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr14:69920000-69930400	Weak transcription	Right Ventricle	heart
7	chr14:69921000-69930400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr14:69922200-69931600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr14:69923400-69931000	Weak transcription	Stomach Mucosa	stomach
10	chr14:69923600-69930400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:69923600-69950400	Weak transcription	Gastric	stomach
12	chr14:69923800-69930400	Weak transcription	HMEC	breast
13	chr14:69923800-69930800	Weak transcription	HepG2	liver
14	chr14:69923800-69931200	Weak transcription	NHDF-Ad	bronchial
15	chr14:69924200-69931400	Weak transcription	Small Intestine	intestine
16	chr14:69925400-69931200	Weak transcription	Lung	lung
17	chr14:69925400-69931400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr14:69925400-69939600	Weak transcription	Pancreas	Pancrea
19	chr14:69925400-69942000	Weak transcription	Spleen	Spleen
20	chr14:69925600-69929800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr14:69925600-69930000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr14:69925600-69930400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr14:69925600-69940000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr14:69925600-69940000	Weak transcription	Hela-S3	cervix
25	chr14:69925800-69930000	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr14:69925800-69930400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr14:69925800-69930600	Weak transcription	Brain Angular Gyrus	brain
28	chr14:69926000-69930200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr14:69926000-69930200	Weak transcription	Brain Cingulate Gyrus	brain
30	chr14:69926000-69930600	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr14:69926000-69930800	Weak transcription	HUVEC	blood vessel
32	chr14:69926000-69931400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr14:69926000-69933000	Weak transcription	A549	lung
34	chr14:69926000-69933200	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr14:69926000-69940000	Weak transcription	Brain Anterior Caudate	brain
36	chr14:69926000-69940000	Weak transcription	Fetal Intestine Small	intestine
37	chr14:69926200-69930400	Weak transcription	Brain Substantia Nigra	brain
38	chr14:69926200-69930800	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr14:69926200-69931000	Weak transcription	Brain Hippocampus Middle	brain
40	chr14:69926200-69931200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr14:69926200-69935200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr14:69926200-69937200	Weak transcription	Left Ventricle	heart
43	chr14:69927400-69929800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr14:69927800-69939400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr14:69928000-69930000	Weak transcription	NHEK	skin
46	chr14:69928000-69930400	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr14:69928000-69932600	Weak transcription	Fetal Stomach	stomach
48	chr14:69928000-69933600	Weak transcription	Rectal Smooth Muscle	rectum
49	chr14:69928000-69941000	Weak transcription	Stomach Smooth Muscle	stomach
50	chr14:69928200-69929800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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