Variant report

Variant	rs1014597
Chromosome Location	chr15:55522929-55522930
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:55520811..55529435-chr15:55529925..55534726,12	K562	blood:
2	chr15:55520021..55524159-chr15:55571941..55574919,3	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs16976194	0.86[ASW][hapmap]
rs17550675	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17819042	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2444039	0.93[GIH][hapmap];0.84[JPT][hapmap];0.87[MEX][hapmap];0.83[AMR][1000 genomes]
rs2444043	0.84[JPT][hapmap]
rs3784547	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3985771	0.84[JPT][hapmap]
rs540476	0.84[JPT][hapmap]
rs62018087	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9920114	0.86[GIH][hapmap];0.84[JPT][hapmap];0.83[MEX][hapmap]

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
rs1014597	RAB27A	cis	cerebellum	SCAN

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:55489800-55540200	Weak transcription	Esophagus	oesophagus
2	chr15:55490000-55529400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr15:55490000-55562800	Weak transcription	Ovary	ovary
4	chr15:55509400-55541600	Weak transcription	Small Intestine	intestine
5	chr15:55510400-55525000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr15:55510400-55528000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr15:55510600-55523800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr15:55512800-55541600	Weak transcription	Colonic Mucosa	Colon
9	chr15:55513400-55532400	Weak transcription	Left Ventricle	heart
10	chr15:55514200-55523000	Weak transcription	NHEK	skin
11	chr15:55514200-55532000	Weak transcription	Lung	lung
12	chr15:55514200-55532600	Weak transcription	Psoas Muscle	Psoas
13	chr15:55514200-55540400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr15:55514200-55545200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr15:55514400-55541200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr15:55514600-55534200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr15:55514600-55542600	Weak transcription	Hela-S3	cervix
18	chr15:55514600-55543200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr15:55514800-55532600	Weak transcription	Adipose Nuclei	Adipose
20	chr15:55514800-55539800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr15:55514800-55560400	Weak transcription	Spleen	Spleen
22	chr15:55515400-55526200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr15:55516000-55524600	Genic enhancers	Primary neutrophils fromperipheralblood	blood
24	chr15:55516000-55559600	Weak transcription	Fetal Stomach	stomach
25	chr15:55516200-55529400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr15:55517600-55542800	Weak transcription	Thymus	Thymus
27	chr15:55517800-55525600	Weak transcription	Primary T cells from cord blood	blood
28	chr15:55517800-55526600	Weak transcription	Fetal Intestine Small	intestine
29	chr15:55517800-55532400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr15:55517800-55539600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr15:55517800-55542200	Weak transcription	Fetal Thymus	thymus
32	chr15:55517800-55542800	Weak transcription	Primary B cells from peripheral blood	blood
33	chr15:55518000-55524000	Weak transcription	Fetal Muscle Leg	muscle
34	chr15:55518000-55539200	Weak transcription	Fetal Lung	lung
35	chr15:55518600-55526200	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr15:55518600-55527000	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr15:55518600-55533600	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr15:55518600-55539400	Weak transcription	Placenta	Placenta
39	chr15:55518800-55541200	Weak transcription	Aorta	Aorta
40	chr15:55519200-55524800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr15:55520000-55525000	Weak transcription	Gastric	stomach
42	chr15:55520200-55523400	Strong transcription	Primary B cells from cord blood	blood
43	chr15:55520600-55526200	Weak transcription	Duodenum Mucosa	Duodenum
44	chr15:55520800-55524800	Weak transcription	Fetal Kidney	kidney
45	chr15:55520800-55528400	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr15:55520800-55574800	Weak transcription	Stomach Smooth Muscle	stomach
47	chr15:55521000-55523400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr15:55521000-55526200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr15:55521000-55541400	Weak transcription	Fetal Intestine Large	intestine
50	chr15:55521600-55527200	Genic enhancers	K562	blood

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