Variant report

Variant	rs561256453
Chromosome Location	chr14:56088050-56088051
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:56087704..56089549-chr14:56953257..56955747,2	K562	blood:

Variant related genes	Relation type
ENSG00000070269	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901961	chr14:55853724-56101879	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv901962	chr14:55862956-56101879	Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv901964	chr14:55871452-56101879	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv1051564	chr14:55895610-56130788	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv542103	chr14:55895610-56130788	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv901965	chr14:55976428-56101879	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv832804	chr14:56083850-56277632	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	esv3338673	chr14:56088012-56088652	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56077800-56092000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr14:56078600-56148600	Weak transcription	Stomach Mucosa	stomach
3	chr14:56078800-56095400	Strong transcription	Primary T helper cells fromperipheralblood	blood
4	chr14:56079000-56089000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr14:56079000-56091000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr14:56079200-56095200	Strong transcription	Primary T cells from cord blood	blood
7	chr14:56079800-56088400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr14:56079800-56111400	Strong transcription	Rectal Mucosa Donor 29	rectum
9	chr14:56080200-56097800	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr14:56080600-56091800	Strong transcription	Rectal Mucosa Donor 31	rectum
11	chr14:56080800-56110800	Strong transcription	Primary T helper cells PMA-I stimulated	--
12	chr14:56081200-56090400	Strong transcription	Adipose Nuclei	Adipose
13	chr14:56081600-56090000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr14:56082200-56091000	Strong transcription	Placenta	Placenta
15	chr14:56082400-56090200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr14:56082400-56091800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr14:56082400-56092000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr14:56082600-56089600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr14:56082600-56091800	Strong transcription	Duodenum Smooth Muscle	Duodenum
20	chr14:56082800-56088400	Strong transcription	Fetal Lung	lung
21	chr14:56082800-56090000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr14:56082800-56090200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr14:56082800-56090400	Strong transcription	Osteobl	bone
24	chr14:56082800-56090600	Strong transcription	NHEK	skin
25	chr14:56082800-56091800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr14:56083000-56088400	Strong transcription	Hela-S3	cervix
27	chr14:56083000-56091000	Strong transcription	HUVEC	blood vessel
28	chr14:56083200-56088200	Strong transcription	HSMM	muscle
29	chr14:56083200-56090000	Strong transcription	NH-A	brain
30	chr14:56083400-56088200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr14:56083600-56088200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr14:56083800-56089200	Weak transcription	Fetal Heart	heart
33	chr14:56084000-56091800	Strong transcription	Muscle Satellite Cultured Cells	--
34	chr14:56084400-56088200	Strong transcription	Primary T killer memory cells from peripheral blood	blood
35	chr14:56084400-56088400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr14:56084600-56088200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr14:56084600-56088200	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr14:56084600-56088200	ZNF genes & repeats	GM12878-XiMat	blood
39	chr14:56084600-56088400	Strong transcription	Brain Inferior Temporal Lobe	brain
40	chr14:56084800-56088600	Strong transcription	Placenta Amnion	Placenta Amnion
41	chr14:56085000-56088400	Strong transcription	Colon Smooth Muscle	Colon
42	chr14:56085000-56091000	Strong transcription	Left Ventricle	heart
43	chr14:56085200-56088200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
44	chr14:56085200-56090000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr14:56085400-56088200	Strong transcription	Fetal Kidney	kidney
46	chr14:56085600-56088400	Strong transcription	Brain Substantia Nigra	brain
47	chr14:56085800-56088400	Strong transcription	Stomach Smooth Muscle	stomach
48	chr14:56086000-56088200	Strong transcription	Brain Hippocampus Middle	brain
49	chr14:56086000-56088400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr14:56086000-56093400	Strong transcription	A549	lung

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