Variant report

Variant	rs7183603
Chromosome Location	chr15:55513718-55513719
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:55491408..55493022-chr15:55511973..55513991,2	K562	blood:
2	chr15:55506823..55513814-chr15:55580257..55584341,9	K562	blood:
3	chr15:55512853..55516000-chr15:55580346..55583057,3	K562	blood:
4	chr15:55504661..55507549-chr15:55511770..55516084,4	K562	blood:
5	chr15:55508422..55515195-chr15:55580692..55586566,10	MCF-7	breast:
6	chr15:55511874..55516207-chr15:55570260..55572623,4	K562	blood:

Variant related genes	Relation type
ENSG00000069974	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1050931	0.80[ASN][1000 genomes]
rs12440420	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16976177	0.92[ASN][1000 genomes]
rs17238171	0.91[ASN][1000 genomes]
rs28405550	0.92[ASN][1000 genomes]
rs28433503	0.80[ASN][1000 genomes]
rs28449712	0.80[ASN][1000 genomes]
rs28478777	0.92[ASN][1000 genomes]
rs28493279	0.85[ASN][1000 genomes]
rs28499113	0.86[ASN][1000 genomes]
rs28508034	0.80[ASN][1000 genomes]
rs28526269	0.80[ASN][1000 genomes]
rs28530662	0.80[ASN][1000 genomes]
rs28535372	0.80[ASN][1000 genomes]
rs28541469	0.80[ASN][1000 genomes]
rs28589609	0.86[ASN][1000 genomes]
rs28591259	0.80[ASN][1000 genomes]
rs28630909	0.80[ASN][1000 genomes]
rs28649719	0.80[ASN][1000 genomes]
rs28699327	0.80[ASN][1000 genomes]
rs28708989	0.80[ASN][1000 genomes]
rs28784096	0.86[ASN][1000 genomes]
rs28864456	0.86[ASN][1000 genomes]
rs28889339	0.86[ASN][1000 genomes]
rs4632077	0.90[ASN][1000 genomes]
rs56328329	0.86[ASN][1000 genomes]
rs62020114	0.83[ASN][1000 genomes]
rs6493771	0.84[ASN][1000 genomes]
rs7165491	0.80[ASN][1000 genomes]
rs7168737	0.80[ASN][1000 genomes]
rs7172108	0.80[ASN][1000 genomes]
rs7172289	0.80[ASN][1000 genomes]
rs7176676	0.85[ASN][1000 genomes]
rs7181237	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7181669	0.84[ASN][1000 genomes]
rs7183255	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7183895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73409851	0.86[ASN][1000 genomes]
rs73409853	0.86[ASN][1000 genomes]
rs8026414	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8030981	0.80[ASN][1000 genomes]
rs9920136	0.86[ASN][1000 genomes]
rs9920219	0.86[ASN][1000 genomes]
rs9920220	0.86[ASN][1000 genomes]
rs9920737	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043176	chr15:55010228-55563000	Genic enhancers Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1042741	chr15:55068022-55622497	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1039471	chr15:55137606-55552555	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv917323	chr15:55290499-56041334	Genic enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
5	nsv1043789	chr15:55400872-56092454	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
6	nsv1049977	chr15:55502508-55555694	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7183603	RAB27A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:55489800-55540200	Weak transcription	Esophagus	oesophagus
2	chr15:55490000-55517200	Weak transcription	Aorta	Aorta
3	chr15:55490000-55529400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr15:55490000-55562800	Weak transcription	Ovary	ovary
5	chr15:55490200-55513800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr15:55490200-55514000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr15:55497800-55514000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr15:55497800-55518400	Weak transcription	Gastric	stomach
9	chr15:55498000-55514200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr15:55506000-55514000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr15:55508400-55517000	Weak transcription	Fetal Heart	heart
12	chr15:55508600-55522600	Weak transcription	Colon Smooth Muscle	Colon
13	chr15:55509400-55541600	Weak transcription	Small Intestine	intestine
14	chr15:55510200-55514600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr15:55510400-55517200	Weak transcription	Fetal Muscle Leg	muscle
16	chr15:55510400-55522600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr15:55510400-55525000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr15:55510400-55528000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr15:55510600-55523800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr15:55510800-55521000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr15:55511200-55516200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr15:55512000-55513800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr15:55512000-55515400	Enhancers	Fetal Lung	lung
24	chr15:55512200-55514400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr15:55512400-55514000	Weak transcription	Liver	Liver
26	chr15:55512400-55516000	Strong transcription	Fetal Stomach	stomach
27	chr15:55512600-55514400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr15:55512600-55514400	Enhancers	NHLF	lung
29	chr15:55512600-55515400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr15:55512600-55515800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr15:55512800-55514200	Enhancers	NH-A	brain
32	chr15:55512800-55514200	Enhancers	NHDF-Ad	bronchial
33	chr15:55512800-55514200	Enhancers	NHEK	skin
34	chr15:55512800-55514600	Enhancers	HMEC	breast
35	chr15:55512800-55514800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr15:55512800-55515200	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr15:55512800-55515600	Flanking Active TSS	Primary B cells from cord blood	blood
38	chr15:55512800-55541600	Weak transcription	Colonic Mucosa	Colon
39	chr15:55513000-55513800	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr15:55513000-55514000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr15:55513000-55514000	Flanking Active TSS	Osteobl	bone
42	chr15:55513000-55514200	Enhancers	Fetal Intestine Small	intestine
43	chr15:55513000-55514200	Enhancers	HSMM	muscle
44	chr15:55513000-55514400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr15:55513000-55514400	Enhancers	Fetal Intestine Large	intestine
46	chr15:55513000-55514600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr15:55513000-55514600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr15:55513000-55514600	Enhancers	Hela-S3	cervix
49	chr15:55513000-55514800	Enhancers	Primary hematopoietic stem cells	blood
50	chr15:55513000-55514800	Enhancers	Primary T helper cells PMA-I stimulated	--

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