Variant report

Variant	rs8012228
Chromosome Location	chr14:77897610-77897611
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	chr14:77895563..77897867-chr14:77905169..77908165,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2287396	1.00[ASW][hapmap];1.00[LWK][hapmap];0.87[MEX][hapmap];0.85[MKK][hapmap]
rs4903582	1.00[ASW][hapmap];1.00[LWK][hapmap];0.85[MKK][hapmap]
rs61990353	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[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	nsv1362	chr14:77853202-77898605	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1041985	chr14:77877421-77936969	Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs8012228	C14orf156	cis	cerebellum	SCAN
rs8012228	C14orf148	cis	parietal	SCAN
rs8012228	AHSA1	cis	parietal	SCAN
rs8012228	ANGEL1	cis	parietal	SCAN
rs8012228	YLPM1	cis	parietal	SCAN
rs8012228	PNMA1	cis	cerebellum	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77887000-77919800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr14:77887000-77920400	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr14:77887200-77904200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr14:77887200-77910800	Strong transcription	Primary B cells from cord blood	blood
5	chr14:77887200-77920200	Strong transcription	Placenta	Placenta
6	chr14:77887200-77920600	Strong transcription	Primary T cells from cord blood	blood
7	chr14:77887400-77904200	Strong transcription	Skeletal Muscle Female	skeletal muscle
8	chr14:77887400-77904400	Strong transcription	Adipose Nuclei	Adipose
9	chr14:77887400-77920000	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr14:77887400-77920400	Strong transcription	Liver	Liver
11	chr14:77887600-77904200	Strong transcription	Brain Hippocampus Middle	brain
12	chr14:77887600-77904400	Strong transcription	Fetal Muscle Trunk	muscle
13	chr14:77887600-77904400	Strong transcription	Stomach Smooth Muscle	stomach
14	chr14:77887600-77913000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr14:77887600-77920000	Strong transcription	Fetal Intestine Large	intestine
16	chr14:77887800-77898000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr14:77887800-77904000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr14:77887800-77904400	Strong transcription	Brain Angular Gyrus	brain
19	chr14:77887800-77920000	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr14:77888000-77904000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr14:77888000-77904200	Strong transcription	Fetal Muscle Leg	muscle
22	chr14:77888000-77904200	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr14:77888000-77920000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr14:77888200-77903800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr14:77888200-77920400	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr14:77888400-77904400	Strong transcription	Fetal Brain Female	brain
27	chr14:77888400-77920000	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr14:77888600-77898800	Strong transcription	GM12878-XiMat	blood
29	chr14:77888600-77903000	Strong transcription	Skeletal Muscle Male	skeletal muscle
30	chr14:77888600-77904200	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr14:77888600-77904400	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr14:77888600-77904400	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr14:77888600-77920000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr14:77888600-77920600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr14:77888800-77902800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr14:77888800-77903600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr14:77888800-77903800	Strong transcription	Duodenum Mucosa	Duodenum
38	chr14:77888800-77904200	Strong transcription	Dnd41	blood
39	chr14:77888800-77904400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr14:77889000-77904600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr14:77889200-77905000	Strong transcription	Primary B cells from peripheral blood	blood
42	chr14:77889200-77920400	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr14:77889400-77904200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr14:77889600-77920400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr14:77889800-77904600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr14:77890400-77904200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr14:77890600-77904200	Strong transcription	Fetal Lung	lung
48	chr14:77891000-77899600	Strong transcription	Fetal Brain Male	brain
49	chr14:77891400-77899400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr14:77891600-77923200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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