Variant report

Variant	rs534318119
Chromosome Location	chr14:55752036-55752037
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:55752014-55752061	K562	blood:	n/a	n/a
2	POLR2A	chr14:55751962-55752074	ProgFib	skin:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:55750735..55753355-chr14:55793484..55796357,2	K562	blood:
2	chr14:55746310..55750691-chr14:55751454..55754283,3	MCF-7	breast:
3	chr14:55737502..55739699-chr14:55749789..55752392,3	K562	blood:
4	chr14:55737035..55739484-chr14:55751324..55753806,2	MCF-7	breast:
5	chr14:55741456..55743340-chr14:55751624..55753408,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000239686	TF binding region
ENSG00000258413	Chromatin interaction
ENSG00000178974	Chromatin interaction
ENSG00000239686	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039438	chr14:55746585-55886099	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv512361	chr14:55750808-55752044	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	esv3530632	chr14:55751113-55752109	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	esv3530633	chr14:55751113-55752109	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55739000-55755600	Weak transcription	Gastric	stomach
2	chr14:55739200-55768400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr14:55740000-55770600	Weak transcription	Colonic Mucosa	Colon
4	chr14:55740200-55754200	Weak transcription	Hela-S3	cervix
5	chr14:55741000-55764600	Weak transcription	Fetal Muscle Leg	muscle
6	chr14:55741000-55773200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr14:55741200-55754000	Weak transcription	Fetal Brain Male	brain
8	chr14:55741800-55752400	Weak transcription	A549	lung
9	chr14:55741800-55763800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr14:55741800-55763800	Weak transcription	NHEK	skin
11	chr14:55741800-55764600	Weak transcription	HMEC	breast
12	chr14:55742000-55752200	Weak transcription	Fetal Lung	lung
13	chr14:55742000-55765400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr14:55742200-55754000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr14:55742200-55754200	Weak transcription	Brain Hippocampus Middle	brain
16	chr14:55742200-55754600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr14:55742600-55754400	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr14:55742800-55754200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr14:55744000-55767800	Weak transcription	K562	blood
20	chr14:55744800-55754600	Weak transcription	HepG2	liver
21	chr14:55744800-55757800	Weak transcription	Fetal Intestine Large	intestine
22	chr14:55744800-55764800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr14:55744800-55765400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr14:55744800-55767800	Weak transcription	Pancreas	Pancrea
25	chr14:55745000-55761000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr14:55745000-55764000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr14:55745000-55768400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr14:55745000-55774000	Weak transcription	Liver	Liver
29	chr14:55745200-55752200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr14:55745200-55761000	Weak transcription	Thymus	Thymus
31	chr14:55745200-55764000	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr14:55745200-55778400	Weak transcription	Fetal Thymus	thymus
33	chr14:55745400-55752200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr14:55745400-55754400	Weak transcription	Brain Anterior Caudate	brain
35	chr14:55745400-55758400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr14:55745400-55759400	Weak transcription	Dnd41	blood
37	chr14:55745400-55764000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr14:55745600-55754000	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr14:55745600-55754000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr14:55745600-55754400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr14:55745600-55761000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr14:55745600-55764200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr14:55745600-55764200	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr14:55745600-55764400	Weak transcription	Primary hematopoietic stem cells	blood
45	chr14:55745600-55769200	Weak transcription	Primary B cells from peripheral blood	blood
46	chr14:55745800-55765400	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr14:55745800-55765400	Weak transcription	Fetal Stomach	stomach
48	chr14:55746400-55754000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr14:55746800-55764000	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr14:55747200-55760400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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