Variant report

Variant	rs17360289
Chromosome Location	chr5:112150327-112150328
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr5:112150116-112150396	GM12891	blood:	n/a	n/a

Variant related genes	Relation type
APC	TF binding region

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs17135067	0.93[EUR][1000 genomes]
rs17285372	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17285666	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17285827	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17286230	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17290064	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17310536	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17311019	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17311096	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17357294	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17359859	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17360045	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17369211	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17369487	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17370550	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17371015	0.80[EUR][1000 genomes]
rs2229997	1.00[AFR][1000 genomes]
rs55684649	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55771309	1.00[AFR][1000 genomes]
rs55771959	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55798475	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56052440	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs56194248	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56218335	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56235416	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs56320268	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56321569	0.80[EUR][1000 genomes]
rs56328836	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56405915	0.81[EUR][1000 genomes]
rs57043077	0.93[EUR][1000 genomes]
rs60532731	0.81[EUR][1000 genomes]
rs6862066	1.00[AFR][1000 genomes]
rs6879416	1.00[AFR][1000 genomes]
rs6879615	1.00[AFR][1000 genomes]
rs6882720	1.00[AFR][1000 genomes]
rs73216225	0.80[EUR][1000 genomes]
rs73220038	0.93[EUR][1000 genomes]
rs7700326	1.00[AFR][1000 genomes]
rs7704566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7726765	1.00[AFR][1000 genomes]
rs7728766	0.80[EUR][1000 genomes]
rs7730944	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7734810	1.00[AFR][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	nsv1032464	chr5:112076061-112192380	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
2	nsv537862	chr5:112076061-112192380	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
3	esv33290	chr5:112110808-112238295	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv1029271	chr5:112113308-112325943	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112093400-112183800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr5:112100000-112152200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr5:112103000-112173200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:112104600-112155400	Weak transcription	Psoas Muscle	Psoas
5	chr5:112115800-112151200	Weak transcription	NHEK	skin
6	chr5:112118200-112151200	Weak transcription	Gastric	stomach
7	chr5:112118200-112155600	Weak transcription	Right Ventricle	heart
8	chr5:112118200-112177000	Weak transcription	Colonic Mucosa	Colon
9	chr5:112129000-112151600	Weak transcription	Hela-S3	cervix
10	chr5:112129000-112154600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr5:112129000-112157400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr5:112129400-112163800	Weak transcription	Small Intestine	intestine
13	chr5:112129600-112163600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr5:112129800-112154800	Weak transcription	NH-A	brain
15	chr5:112130600-112154800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr5:112130600-112155400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr5:112130600-112155600	Weak transcription	Fetal Heart	heart
18	chr5:112130800-112151200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr5:112130800-112151400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr5:112130800-112154800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr5:112130800-112155400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr5:112131200-112151200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr5:112131200-112151200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr5:112131400-112151200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr5:112131800-112157800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:112131800-112164000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr5:112132000-112150800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr5:112132000-112154800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr5:112132000-112174000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr5:112132200-112151200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr5:112132200-112155200	Weak transcription	Fetal Brain Male	brain
32	chr5:112132800-112179800	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr5:112133400-112150400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr5:112133400-112151200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr5:112133400-112154800	Weak transcription	HepG2	liver
36	chr5:112133600-112160800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr5:112133600-112161400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr5:112134000-112153600	Weak transcription	NHDF-Ad	bronchial
39	chr5:112134000-112162800	Weak transcription	Colon Smooth Muscle	Colon
40	chr5:112136600-112176200	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr5:112137000-112151200	Weak transcription	Pancreas	Pancrea
42	chr5:112137000-112154800	Weak transcription	HUVEC	blood vessel
43	chr5:112139000-112151600	Weak transcription	HMEC	breast
44	chr5:112139200-112150400	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr5:112140200-112151000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr5:112140400-112183800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr5:112141400-112162400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr5:112141600-112151000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr5:112141800-112150400	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr5:112142000-112150400	Weak transcription	GM12878-XiMat	blood

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