Variant report

Variant	rs4902307
Chromosome Location	chr14:65149227-65149228
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:65148900..65150464-chr14:65186037..65188877,2	MCF-7	breast:
2	chr14:65148833..65151255-chr14:65153026..65155458,2	K562	blood:
3	chr14:65143231..65150356-chr14:65170206..65174576,10	MCF-7	breast:
4	chr14:65135349..65138709-chr14:65145103..65149484,4	MCF-7	breast:
5	chr14:65145652..65150075-chr14:65165666..65170172,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000126822	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 7 )

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

rs_ID	r²[population]
rs12435904	0.83[MEX][hapmap]
rs1950302	0.83[MEX][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	nsv1049097	chr14:65027753-65202018	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs4902307	ZBTB25	cis	parietal	SCAN
rs4902307	VTI1B	cis	parietal	SCAN
rs4902307	SYNE2	cis	parietal	SCAN
rs4902307	CCDC85C	trans	cerebellum	SCAN
rs4902307	SYNE2	cis	cerebellum	SCAN
rs4902307	SIX1	cis	cerebellum	SCAN
rs4902307	ZBTB25	cis	cerebellum	SCAN

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65142600-65154400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr14:65145600-65149800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:65145600-65151400	Enhancers	HMEC	breast
4	chr14:65146200-65150200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr14:65146200-65153200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr14:65146400-65150000	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr14:65146400-65150400	Enhancers	Esophagus	oesophagus
8	chr14:65146400-65151000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr14:65146600-65149400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr14:65146600-65150000	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr14:65146600-65150200	Enhancers	Rectal Smooth Muscle	rectum
12	chr14:65146600-65151400	Enhancers	Colon Smooth Muscle	Colon
13	chr14:65146600-65151600	Enhancers	Brain Angular Gyrus	brain
14	chr14:65146600-65153200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr14:65146800-65149400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr14:65146800-65149600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr14:65146800-65149600	Enhancers	Fetal Stomach	stomach
18	chr14:65146800-65149600	Enhancers	Fetal Thymus	thymus
19	chr14:65146800-65153000	Enhancers	Fetal Muscle Leg	muscle
20	chr14:65146800-65153000	Enhancers	Placenta	Placenta
21	chr14:65147000-65149600	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr14:65147000-65153000	Enhancers	Fetal Muscle Trunk	muscle
23	chr14:65147000-65155000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr14:65147200-65150200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr14:65147200-65150800	Weak transcription	HSMM	muscle
26	chr14:65147200-65151000	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr14:65147600-65151400	Enhancers	Ovary	ovary
28	chr14:65148000-65149400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr14:65148200-65149400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr14:65148200-65151400	Enhancers	Pancreas	Pancrea
31	chr14:65148400-65149400	Enhancers	Adipose Nuclei	Adipose
32	chr14:65148400-65149400	Enhancers	Fetal Intestine Large	intestine
33	chr14:65148400-65149400	Enhancers	Gastric	stomach
34	chr14:65148400-65149400	Enhancers	A549	lung
35	chr14:65148400-65149600	Enhancers	Left Ventricle	heart
36	chr14:65148400-65151200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr14:65148600-65149400	Enhancers	Muscle Satellite Cultured Cells	--
38	chr14:65148600-65149400	Flanking Active TSS	Brain Anterior Caudate	brain
39	chr14:65148600-65149400	Enhancers	Brain Germinal Matrix	brain
40	chr14:65148600-65149400	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr14:65148600-65149600	Enhancers	Stomach Mucosa	stomach
42	chr14:65148600-65149600	Flanking Active TSS	Hela-S3	cervix
43	chr14:65148600-65149800	Flanking Active TSS	Brain Hippocampus Middle	brain
44	chr14:65148600-65149800	Enhancers	Fetal Heart	heart
45	chr14:65148600-65149800	Enhancers	HSMMtube	muscle
46	chr14:65148800-65149400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr14:65148800-65149400	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr14:65148800-65149400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr14:65148800-65149400	Enhancers	Duodenum Mucosa	Duodenum
50	chr14:65148800-65149400	Enhancers	Fetal Lung	lung

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