Variant report

Variant	rs2184599
Chromosome Location	chr14:70151933-70151934
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:70135430..70139006-chr14:70149542..70153148,4	MCF-7	breast:
2	chr14:70145323..70149322-chr14:70149877..70152985,4	MCF-7	breast:
3	chr14:70145783..70147481-chr14:70150839..70153157,2	K562	blood:
4	chr14:70066908..70070424-chr14:70149586..70152707,3	MCF-7	breast:
5	chr14:70151659..70153320-chr14:70179595..70181137,2	MCF-7	breast:
6	chr14:70148349..70149989-chr14:70151546..70154474,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10498530	0.84[MEX][hapmap];0.86[EUR][1000 genomes]
rs11846784	0.84[EUR][1000 genomes]
rs12147464	0.85[EUR][1000 genomes]
rs1275825	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4899297	1.00[MKK][hapmap]
rs4902741	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902749	0.82[EUR][1000 genomes]
rs56399658	0.85[EUR][1000 genomes]
rs58697041	0.82[EUR][1000 genomes]
rs67737953	0.85[EUR][1000 genomes]
rs72723898	1.00[ASN][1000 genomes]
rs72723899	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72723901	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72727904	1.00[ASN][1000 genomes]
rs867900	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049280	chr14:70036804-70172630	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv542124	chr14:70036804-70172630	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2184599	RAB15	cis	parietal	SCAN

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70134000-70152400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr14:70139800-70152000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:70140600-70152200	Weak transcription	NHLF	lung
4	chr14:70141800-70152400	Weak transcription	Fetal Kidney	kidney
5	chr14:70146600-70153200	Enhancers	Colon Smooth Muscle	Colon
6	chr14:70146800-70152400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr14:70146800-70153200	Enhancers	Duodenum Smooth Muscle	Duodenum
8	chr14:70146800-70153600	Enhancers	Fetal Muscle Leg	muscle
9	chr14:70146800-70153800	Enhancers	Brain Anterior Caudate	brain
10	chr14:70146800-70155600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr14:70147000-70152800	Enhancers	Primary B cells from peripheral blood	blood
12	chr14:70147000-70153000	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr14:70147000-70153200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr14:70147200-70152800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr14:70147200-70152800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr14:70147600-70152200	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr14:70148200-70152800	Enhancers	Left Ventricle	heart
18	chr14:70148200-70152800	Enhancers	Spleen	Spleen
19	chr14:70148200-70153000	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr14:70148400-70152400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr14:70148400-70152800	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr14:70148400-70156800	Enhancers	HepG2	liver
23	chr14:70148600-70152200	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr14:70148600-70152600	Enhancers	Stomach Mucosa	stomach
25	chr14:70148600-70153000	Enhancers	Primary T cells fromperipheralblood	blood
26	chr14:70148600-70153000	Enhancers	Psoas Muscle	Psoas
27	chr14:70148600-70153000	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr14:70148600-70155800	Enhancers	Fetal Thymus	thymus
29	chr14:70148800-70152200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr14:70148800-70152400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr14:70148800-70152400	Enhancers	Stomach Smooth Muscle	stomach
32	chr14:70148800-70152800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr14:70148800-70152800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr14:70148800-70153000	Enhancers	Small Intestine	intestine
35	chr14:70148800-70153200	Enhancers	Brain Angular Gyrus	brain
36	chr14:70148800-70153600	Enhancers	Brain Substantia Nigra	brain
37	chr14:70148800-70156600	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr14:70149000-70152400	Enhancers	HMEC	breast
39	chr14:70149000-70152800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr14:70149000-70152800	Enhancers	Duodenum Mucosa	Duodenum
41	chr14:70149000-70152800	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr14:70149000-70153200	Enhancers	Adipose Nuclei	Adipose
43	chr14:70149000-70153400	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr14:70149000-70153600	Enhancers	Rectal Smooth Muscle	rectum
45	chr14:70149200-70152200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr14:70149200-70153600	Enhancers	Brain Cingulate Gyrus	brain
47	chr14:70149200-70156200	Enhancers	Brain Hippocampus Middle	brain
48	chr14:70149400-70152600	Enhancers	Colonic Mucosa	Colon
49	chr14:70149400-70152800	Enhancers	Esophagus	oesophagus
50	chr14:70149400-70152800	Enhancers	Right Atrium	heart

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