Variant report

Variant	rs12880840
Chromosome Location	chr14:78266591-78266592
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:78223413..78230716-chr14:78265065..78269735,15	MCF-7	breast:
2	chr14:78266285..78268039-chr17:58469089..58471364,2	MCF-7	breast:
3	chr14:78227205..78229069-chr14:78264195..78266638,2	MCF-7	breast:
4	chr14:78266259..78267034-chr5:81267621..81268405,2	Hela-S3	cervix:
5	chr14:78225549..78228360-chr14:78265163..78268062,4	K562	blood:

Variant related genes	Relation type
ENSG00000197734	Chromatin interaction
ENSG00000152348	Chromatin interaction
ENSG00000141371	Chromatin interaction
ENSG00000170832	Chromatin interaction
ENSG00000268208	Chromatin interaction
ENSG00000100603	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1076496	0.81[ASN][1000 genomes]
rs12432030	0.99[ASN][1000 genomes]
rs12587155	0.94[ASN][1000 genomes]
rs12587825	0.85[ASN][1000 genomes]
rs12590320	0.91[ASN][1000 genomes]
rs12880300	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12886631	0.80[ASN][1000 genomes]
rs12892669	0.80[ASN][1000 genomes]
rs2267755	0.81[ASN][1000 genomes]
rs2270443	0.81[ASN][1000 genomes]
rs2277917	0.81[EUR][1000 genomes]
rs2299931	0.80[ASN][1000 genomes]
rs35657726	0.84[ASN][1000 genomes]
rs4540996	0.80[ASN][1000 genomes]
rs4641655	0.83[EUR][1000 genomes]
rs4903644	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4903647	0.80[ASN][1000 genomes]
rs67408612	0.83[ASN][1000 genomes]
rs7145979	0.83[ASN][1000 genomes]
rs72688831	0.97[ASN][1000 genomes]
rs8022886	0.87[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	nsv1043788	chr14:78178490-78381190	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv2754594	chr14:78222798-78275549	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	12 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	chr14:78265600-78267000	Active TSS	H1 Cell Line	embryonic stem cell
2	chr14:78265800-78266600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr14:78265800-78266800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr14:78265800-78266800	Enhancers	Fetal Brain Male	brain
5	chr14:78265800-78267000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr14:78265800-78267200	Active TSS	Colonic Mucosa	Colon
7	chr14:78266000-78266800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr14:78266000-78266800	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr14:78266000-78266800	Active TSS	Primary T cells from cord blood	blood
10	chr14:78266000-78266800	Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr14:78266000-78266800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
12	chr14:78266000-78266800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr14:78266000-78266800	Active TSS	Adipose Nuclei	Adipose
14	chr14:78266000-78266800	Active TSS	Liver	Liver
15	chr14:78266000-78266800	Active TSS	Duodenum Mucosa	Duodenum
16	chr14:78266000-78266800	Active TSS	Fetal Brain Female	brain
17	chr14:78266000-78266800	Active TSS	Ovary	ovary
18	chr14:78266000-78266800	Active TSS	Rectal Mucosa Donor 31	rectum
19	chr14:78266000-78266800	Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr14:78266000-78266800	Active TSS	HUVEC	blood vessel
21	chr14:78266000-78266800	Active TSS	Monocytes-CD14+_RO01746	blood
22	chr14:78266000-78266800	Active TSS	NH-A	brain
23	chr14:78266000-78267000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:78266000-78267000	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr14:78266000-78267000	Active TSS	Primary T helper naive cells from peripheral blood	blood
26	chr14:78266000-78267000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr14:78266000-78267000	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr14:78266000-78267000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr14:78266000-78267000	Active TSS	Colon Smooth Muscle	Colon
30	chr14:78266000-78267000	Active TSS	K562	blood
31	chr14:78266000-78267200	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr14:78266000-78267200	Active TSS	H9 Cell Line	embryonic stem cell
33	chr14:78266000-78267200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr14:78266000-78267200	Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr14:78266000-78267200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr14:78266000-78267200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
37	chr14:78266000-78267200	Active TSS	Brain Anterior Caudate	brain
38	chr14:78266000-78267200	Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr14:78266000-78267200	Active TSS	Fetal Heart	heart
40	chr14:78266000-78267200	Active TSS	Fetal Intestine Small	intestine
41	chr14:78266000-78267200	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr14:78266000-78267200	Active TSS	Fetal Stomach	stomach
43	chr14:78266000-78267200	Active TSS	Right Atrium	heart
44	chr14:78266000-78267200	Active TSS	Right Ventricle	heart
45	chr14:78266000-78267200	Active TSS	Osteobl	bone
46	chr14:78266000-78267400	Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr14:78266000-78267400	Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr14:78266000-78267400	Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr14:78266000-78267400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr14:78266000-78267400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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