Variant report

Variant	rs58554991
Chromosome Location	chr14:39571153-39571154
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYBL2	chr14:39570718-39573407	HepG2	liver:	n/a	n/a
2	POLR2A	chr14:39571075-39574433	HepG2	liver:	n/a	n/a
3	ARID3A	chr14:39571145-39571165	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:39556842..39558862-chr14:39570996..39573006,2	MCF-7	breast:
2	chr14:39569453..39572073-chr14:39590270..39592529,2	K562	blood:
3	chr14:39559381..39561366-chr14:39570392..39572584,2	K562	blood:
4	chr14:39570644..39573336-chr14:39733309..39737125,4	MCF-7	breast:
5	chr14:39570654..39572608-chr14:39637696..39639686,2	K562	blood:
6	chr14:39570348..39574070-chr14:39637691..39640941,4	MCF-7	breast:
7	chr14:39569997..39574883-chr14:39575393..39578347,7	MCF-7	breast:
8	chr14:39570753..39574803-chr14:39575206..39579488,6	K562	blood:
9	chr14:39570993..39573887-chr14:39839322..39841759,2	MCF-7	breast:
10	chr14:39571044..39574449-chr14:39575206..39581914,9	K562	blood:
11	chr14:39570001..39572147-chr14:39582267..39584082,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258651	TF binding region
ENSG00000092208	Chromatin interaction
ENSG00000182400	Chromatin interaction
ENSG00000100934	Chromatin interaction
ENSG00000259121	Chromatin interaction
ENSG00000258941	Chromatin interaction
ENSG00000258940	Chromatin interaction
ENSG00000258591	Chromatin interaction
ENSG00000150527	Chromatin interaction
ENSG00000271424	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12894046	0.84[AFR][1000 genomes]
rs57653321	0.82[AFR][1000 genomes]
rs73289780	0.86[AFR][1000 genomes]
rs73289792	0.86[AFR][1000 genomes]
rs73289793	0.86[AFR][1000 genomes]
rs73291544	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1038622	chr14:39423562-39604035	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39554200-39571200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:39554800-39571600	Weak transcription	K562	blood
3	chr14:39555200-39571600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:39558800-39571400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr14:39560400-39571400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr14:39560400-39571600	Weak transcription	Esophagus	oesophagus
7	chr14:39560400-39571600	Weak transcription	Gastric	stomach
8	chr14:39561000-39571200	Weak transcription	Colonic Mucosa	Colon
9	chr14:39561000-39571400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr14:39561000-39571400	Weak transcription	Psoas Muscle	Psoas
11	chr14:39561600-39571200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr14:39561600-39571400	Weak transcription	Brain Hippocampus Middle	brain
13	chr14:39561600-39571600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr14:39563400-39571600	Weak transcription	Thymus	Thymus
15	chr14:39564000-39571200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr14:39564400-39571400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr14:39564400-39571400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr14:39564600-39571400	Weak transcription	Primary hematopoietic stem cells	blood
19	chr14:39564800-39571200	Weak transcription	Fetal Thymus	thymus
20	chr14:39564800-39571200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr14:39564800-39571200	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr14:39564800-39571400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr14:39565000-39571400	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr14:39565000-39571600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr14:39565000-39571600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr14:39565400-39571200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr14:39565400-39571200	Weak transcription	Brain Anterior Caudate	brain
28	chr14:39565400-39571200	Weak transcription	NHDF-Ad	bronchial
29	chr14:39565400-39571400	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr14:39565400-39571400	Weak transcription	Primary B cells from peripheral blood	blood
31	chr14:39565400-39571400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr14:39565400-39571400	Weak transcription	Fetal Kidney	kidney
33	chr14:39565400-39571400	Weak transcription	Placenta	Placenta
34	chr14:39565400-39571400	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr14:39565400-39571600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr14:39565400-39571600	Weak transcription	Ovary	ovary
37	chr14:39565600-39571400	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr14:39565600-39571400	Weak transcription	NHEK	skin
39	chr14:39565600-39571600	Weak transcription	Left Ventricle	heart
40	chr14:39566200-39571200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr14:39566200-39571400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr14:39566600-39571200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr14:39566600-39571400	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr14:39566600-39571400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr14:39566600-39571400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr14:39566600-39571400	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr14:39566800-39571200	Weak transcription	Right Ventricle	heart
48	chr14:39567600-39571600	Weak transcription	Fetal Heart	heart
49	chr14:39567800-39571600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr14:39567800-39571600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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