Variant report

Variant	rs8012008
Chromosome Location	chr14:65483887-65483888
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:65453059..65456950-chr14:65478988..65484020,4	MCF-7	breast:
2	chr14:65480253..65482376-chr14:65482533..65484842,2	K562	blood:

Variant related genes	Relation type
ENSG00000264620	Chromatin interaction
ENSG00000257365	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11620955	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11627531	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11628273	0.83[EUR][1000 genomes]
rs12435835	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4466998	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4586342	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4899159	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7148590	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7155275	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7155454	0.84[EUR][1000 genomes]
rs726668	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8006419	0.85[EUR][1000 genomes]

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	nsv832816	chr14:65473244-65644645	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8012008	RAB15	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65454800-65513800	Weak transcription	Stomach Mucosa	stomach
2	chr14:65457600-65499800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr14:65459400-65508000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr14:65464400-65521200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:65467800-65494200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr14:65468200-65486800	Weak transcription	Colon Smooth Muscle	Colon
7	chr14:65470400-65539600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr14:65470800-65484000	Strong transcription	HepG2	liver
9	chr14:65470800-65485400	Strong transcription	Fetal Stomach	stomach
10	chr14:65471000-65494000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr14:65471200-65486200	Strong transcription	Fetal Intestine Small	intestine
12	chr14:65471200-65546200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr14:65471800-65486400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr14:65472400-65485000	Strong transcription	Fetal Intestine Large	intestine
15	chr14:65472800-65484400	Strong transcription	Primary T cells from cord blood	blood
16	chr14:65473400-65486400	Weak transcription	Fetal Kidney	kidney
17	chr14:65473400-65501400	Weak transcription	NHLF	lung
18	chr14:65473800-65513800	Weak transcription	HMEC	breast
19	chr14:65474000-65494200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr14:65474200-65494400	Weak transcription	NH-A	brain
21	chr14:65474400-65494800	Weak transcription	NHDF-Ad	bronchial
22	chr14:65474600-65485000	Strong transcription	Fetal Muscle Trunk	muscle
23	chr14:65474800-65484000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr14:65474800-65486000	Strong transcription	Fetal Muscle Leg	muscle
25	chr14:65475000-65485000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr14:65475200-65509400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr14:65475600-65484200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr14:65475800-65484200	Strong transcription	Liver	Liver
29	chr14:65475800-65501600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr14:65476000-65485000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr14:65476000-65485200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr14:65477200-65491800	Weak transcription	Psoas Muscle	Psoas
33	chr14:65477200-65493200	Weak transcription	Aorta	Aorta
34	chr14:65478000-65485000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr14:65478200-65484400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr14:65478200-65484400	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr14:65478200-65489000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr14:65478400-65484200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr14:65478400-65484200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr14:65478400-65485000	Strong transcription	Brain Germinal Matrix	brain
41	chr14:65478400-65485200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr14:65478600-65484400	Strong transcription	Thymus	Thymus
43	chr14:65478600-65491800	Weak transcription	NHEK	skin
44	chr14:65479000-65484200	Strong transcription	GM12878-XiMat	blood
45	chr14:65479000-65486200	Weak transcription	Fetal Heart	heart
46	chr14:65479200-65484200	Strong transcription	Primary B cells from peripheral blood	blood
47	chr14:65479400-65492400	Weak transcription	Colonic Mucosa	Colon
48	chr14:65479800-65493800	Weak transcription	HSMM	muscle
49	chr14:65480000-65507400	Weak transcription	Gastric	stomach
50	chr14:65480200-65486400	Weak transcription	K562	blood

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