Variant report

Variant	rs2236298
Chromosome Location	chr14:55250942-55250943
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:55247890..55252413-chr14:55368163..55370491,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000131979	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12323472	0.85[AMR][1000 genomes]
rs28648747	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28695457	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7156733	0.89[YRI][hapmap]

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:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55237600-55261200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr14:55240600-55251200	Weak transcription	Gastric	stomach
3	chr14:55240600-55253600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr14:55240600-55254800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:55240600-55257000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr14:55240800-55253800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:55240800-55256000	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr14:55240800-55256400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr14:55240800-55256400	Weak transcription	Brain Angular Gyrus	brain
10	chr14:55240800-55259200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr14:55240800-55261600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr14:55240800-55261600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr14:55241000-55256400	Weak transcription	Ovary	ovary
14	chr14:55241000-55258400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr14:55241000-55259200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr14:55241000-55260200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr14:55241000-55263200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr14:55241200-55257600	Weak transcription	K562	blood
19	chr14:55241200-55272200	Weak transcription	A549	lung
20	chr14:55241800-55257400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr14:55243400-55251000	Weak transcription	Brain Substantia Nigra	brain
22	chr14:55243400-55253800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr14:55243400-55256000	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr14:55243600-55251000	Weak transcription	Brain Anterior Caudate	brain
25	chr14:55243600-55253600	Weak transcription	Thymus	Thymus
26	chr14:55243600-55261400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr14:55243800-55251200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr14:55243800-55253200	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr14:55243800-55257400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr14:55243800-55258000	Strong transcription	HUVEC	blood vessel
31	chr14:55244000-55257400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr14:55244000-55257400	Strong transcription	NHEK	skin
33	chr14:55244000-55258200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr14:55244200-55251400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr14:55244200-55252200	Strong transcription	Osteobl	bone
36	chr14:55244200-55253000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr14:55244200-55257800	Strong transcription	HSMMtube	muscle
38	chr14:55244200-55258000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr14:55244200-55258200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr14:55244400-55256400	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr14:55244400-55259400	Strong transcription	NHLF	lung
42	chr14:55244800-55257800	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr14:55245800-55251600	Weak transcription	Psoas Muscle	Psoas
44	chr14:55245800-55257400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr14:55246200-55253600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr14:55246600-55259400	Strong transcription	NHDF-Ad	bronchial
47	chr14:55246800-55251000	Weak transcription	Placenta	Placenta
48	chr14:55247000-55257600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr14:55247200-55258000	Strong transcription	Muscle Satellite Cultured Cells	--
50	chr14:55248000-55252400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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