Variant report

Variant	rs55894180
Chromosome Location	chr14:78108887-78108888
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs55799913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73305429	0.89[EUR][1000 genomes]

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	nsv1053810	chr14:77987871-78148320	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1051554	chr14:78004196-78122980	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv2758362	chr14:78074180-78262572	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	esv2759998	chr14:78074180-78262572	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	esv2757575	chr14:78104897-78212462	Strong transcription Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	esv34940	chr14:78104897-78222798	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv521287	chr14:78108003-78211225	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78107400-78109000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr14:78107400-78109000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr14:78107400-78109000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr14:78107600-78109000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
5	chr14:78107600-78109000	Flanking Active TSS	Adipose Nuclei	Adipose
6	chr14:78107600-78109000	Active TSS	Colon Smooth Muscle	Colon
7	chr14:78107600-78109000	Flanking Active TSS	Duodenum Mucosa	Duodenum
8	chr14:78107600-78109000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
9	chr14:78107600-78109000	Flanking Active TSS	Osteobl	bone
10	chr14:78107800-78109000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
11	chr14:78107800-78109000	Active TSS	Brain Cingulate Gyrus	brain
12	chr14:78107800-78109000	Flanking Active TSS	Colonic Mucosa	Colon
13	chr14:78107800-78109000	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr14:78107800-78109000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
15	chr14:78107800-78109000	Active TSS	Ovary	ovary
16	chr14:78108000-78109000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr14:78108000-78109000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
18	chr14:78108000-78109000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
19	chr14:78108000-78109000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
20	chr14:78108000-78109000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr14:78108000-78109000	Flanking Active TSS	Brain Angular Gyrus	brain
22	chr14:78108000-78109000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr14:78108000-78109000	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr14:78108000-78109000	Flanking Active TSS	Fetal Muscle Leg	muscle
25	chr14:78108000-78109000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
26	chr14:78108000-78109000	Flanking Active TSS	HUVEC	blood vessel
27	chr14:78108000-78111400	Weak transcription	K562	blood
28	chr14:78108200-78109000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr14:78108200-78109000	Active TSS	Primary T cells from cord blood	blood
30	chr14:78108200-78109000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr14:78108200-78109000	Active TSS	Brain Anterior Caudate	brain
32	chr14:78108200-78109000	Active TSS	Esophagus	oesophagus
33	chr14:78108200-78109000	Active TSS	Rectal Smooth Muscle	rectum
34	chr14:78108400-78109000	Active TSS	Rectal Mucosa Donor 29	rectum
35	chr14:78108400-78109000	Active TSS	Right Atrium	heart
36	chr14:78108400-78109000	Active TSS	Right Ventricle	heart
37	chr14:78108400-78109000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr14:78108600-78109000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr14:78108600-78109000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
40	chr14:78108600-78109000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
41	chr14:78108600-78109000	Active TSS	Liver	Liver
42	chr14:78108600-78109000	Flanking Active TSS	Brain Hippocampus Middle	brain
43	chr14:78108600-78109000	Enhancers	Lung	lung
44	chr14:78108600-78109000	Enhancers	Stomach Mucosa	stomach
45	chr14:78108600-78109000	Enhancers	Spleen	Spleen
46	chr14:78108800-78109000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr14:78108800-78109000	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr14:78108800-78109000	Flanking Active TSS	Primary B cells from cord blood	blood
49	chr14:78108800-78109000	Enhancers	Primary B cells from peripheral blood	blood
50	chr14:78108800-78109000	Enhancers	Primary hematopoietic stem cells	blood

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