Variant report

Variant	rs55874539
Chromosome Location	chr14:55237120-55237121
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr14:55236406-55237536	H1-neurons	neurons:	n/a	chr14:55237306-55237314
2	REST	chr14:55236765-55237282	H1-neurons	neurons:	n/a	n/a
3	POLR2A	chr14:55236653-55237423	H1-neurons	neurons:	n/a	n/a
4	POLR2A	chr14:55236651-55237515	H1-neurons	neurons:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:55218220..55220740-chr14:55234836..55237830,2	MCF-7	breast:
2	chr14:55220923..55225208-chr14:55233261..55241446,8	K562	blood:
3	chr14:55234866..55237900-chr14:55238411..55240727,3	K562	blood:
4	chr14:55235323..55237263-chr14:55237473..55239035,2	MCF-7	breast:
5	chr14:55035668..55037194-chr14:55236108..55237685,2	MCF-7	breast:
6	chr14:55030063..55033521-chr14:55235230..55238189,3	MCF-7	breast:
7	chr14:55032032..55035712-chr14:55234318..55237579,5	MCF-7	breast:
8	chr14:54961305..54964249-chr14:55236211..55238274,2	MCF-7	breast:
9	chr14:55029820..55035664-chr14:55234750..55242867,15	K562	blood:
10	chr14:55196610..55198817-chr14:55236965..55239044,2	K562	blood:
11	chr14:55039042..55042077-chr14:55236554..55240895,3	K562	blood:

No data

Variant related genes	Relation type
SAMD4A	TF binding region
ENSG00000020577	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17127944	1.00[ASN][1000 genomes]
rs9323271	1.00[EUR][1000 genomes];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	nsv530042	chr14:55208170-55386966	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55165800-55239200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:55202800-55239800	Weak transcription	Brain Angular Gyrus	brain
3	chr14:55216800-55239800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr14:55217800-55239600	Weak transcription	Fetal Lung	lung
5	chr14:55219600-55239200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr14:55220400-55237800	Strong transcription	HepG2	liver
7	chr14:55220600-55237400	Strong transcription	NHLF	lung
8	chr14:55220600-55240200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr14:55222400-55240200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr14:55224600-55239000	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr14:55225200-55239800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr14:55225200-55240200	Weak transcription	Esophagus	oesophagus
13	chr14:55225800-55238800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr14:55226000-55237200	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr14:55226000-55239000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr14:55226200-55237400	Strong transcription	Adipose Nuclei	Adipose
17	chr14:55226400-55238800	Weak transcription	A549	lung
18	chr14:55226400-55239200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr14:55228200-55239800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr14:55228800-55239200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr14:55229000-55240200	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr14:55229400-55238400	Strong transcription	HSMM	muscle
23	chr14:55229800-55237800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr14:55229800-55238400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr14:55229800-55239000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr14:55231000-55239800	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr14:55231000-55240200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr14:55231200-55237600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr14:55231200-55238600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr14:55231600-55239400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr14:55231800-55240200	Weak transcription	Ovary	ovary
32	chr14:55231800-55240400	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr14:55231800-55245400	Weak transcription	Pancreas	Pancrea
34	chr14:55232000-55238200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr14:55232000-55239000	Weak transcription	HMEC	breast
36	chr14:55232000-55239200	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr14:55233000-55237200	Strong transcription	Brain Substantia Nigra	brain
38	chr14:55233200-55239600	Weak transcription	Primary B cells from peripheral blood	blood
39	chr14:55233400-55237400	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr14:55233600-55238000	Strong transcription	HUVEC	blood vessel
41	chr14:55233800-55237200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr14:55233800-55238000	Weak transcription	K562	blood
43	chr14:55233800-55239200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr14:55233800-55239800	Weak transcription	Spleen	Spleen
45	chr14:55234000-55239000	Weak transcription	Primary hematopoietic stem cells	blood
46	chr14:55234200-55239000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr14:55234200-55239000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr14:55234400-55238400	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr14:55234400-55239000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr14:55234400-55239200	Weak transcription	Brain Hippocampus Middle	brain

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