Variant report

Variant	rs57193392
Chromosome Location	chr14:24849491-24849492
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:24847163..24849658-chr14:24851937..24853825,2	K562	blood:
2	chr14:24827418..24850855-chr14:24894884..24913772,127	MCF-7	breast:
3	chr14:24816528..24849574-chr14:24893305..24914155,145	MCF-7	breast:
4	chr14:24848629..24853303-chr14:24854716..24857758,5	MCF-7	breast:
5	chr14:24841528..24843168-chr14:24849047..24851788,2	K562	blood:
6	chr14:24848975..24851488-chr14:24857640..24859288,2	K562	blood:
7	chr14:24844289..24846270-chr14:24846391..24850331,3	MCF-7	breast:
8	chr14:24838955..24840778-chr14:24849371..24851355,2	K562	blood:
9	chr14:24842116..24850865-chr14:24857760..24868159,21	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000100968	Chromatin interaction
ENSG00000205978	Chromatin interaction
ENSG00000139899	Chromatin interaction
ENSG00000100445	Chromatin interaction
ENSG00000100441	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10131172	0.97[ASN][1000 genomes]
rs1955915	0.97[ASN][1000 genomes]
rs6573766	0.83[ASN][1000 genomes]
rs9788516	0.96[ASN][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	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24838200-24850200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:24838800-24849600	Weak transcription	Fetal Brain Female	brain
3	chr14:24838800-24850600	Weak transcription	Fetal Kidney	kidney
4	chr14:24842600-24852400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:24843000-24851200	Weak transcription	Adipose Nuclei	Adipose
6	chr14:24846200-24850400	Enhancers	Fetal Intestine Large	intestine
7	chr14:24846600-24849800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr14:24846600-24849800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr14:24846600-24850000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:24846600-24850800	Weak transcription	Fetal Lung	lung
11	chr14:24846800-24851000	Weak transcription	HUVEC	blood vessel
12	chr14:24847000-24850200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr14:24847000-24859600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr14:24847200-24849600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr14:24847200-24849800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr14:24847200-24850400	Weak transcription	Placenta	Placenta
17	chr14:24847200-24850800	Weak transcription	Spleen	Spleen
18	chr14:24847200-24850800	Weak transcription	NHDF-Ad	bronchial
19	chr14:24847200-24857600	Weak transcription	Ovary	ovary
20	chr14:24847400-24849800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr14:24847400-24857800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr14:24847600-24850000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr14:24847600-24854600	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr14:24847800-24850400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr14:24847800-24857400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr14:24848200-24851000	Weak transcription	NHLF	lung
27	chr14:24848200-24852200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr14:24848200-24852600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr14:24848200-24857600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr14:24848200-24858400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr14:24848400-24850000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr14:24848400-24850200	Enhancers	Fetal Intestine Small	intestine
33	chr14:24848400-24850200	Weak transcription	Fetal Muscle Leg	muscle
34	chr14:24848400-24850200	Weak transcription	Fetal Thymus	thymus
35	chr14:24848400-24850600	Weak transcription	Fetal Stomach	stomach
36	chr14:24848400-24850800	Weak transcription	Osteobl	bone
37	chr14:24848400-24856000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr14:24848600-24849600	Weak transcription	Stomach Smooth Muscle	stomach
39	chr14:24848600-24850200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr14:24848600-24850400	Weak transcription	NHEK	skin
41	chr14:24848600-24850600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr14:24848600-24850600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr14:24848800-24850200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr14:24849000-24850400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr14:24849000-24850400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr14:24849000-24850600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr14:24849200-24851000	Weak transcription	Esophagus	oesophagus
48	chr14:24849400-24849600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr14:24849400-24850000	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr14:24849400-24850200	Enhancers	H9 Cell Line	embryonic stem cell

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