Variant report

Variant	rs73392288
Chromosome Location	chr15:49543039-49543040
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:49541585..49543251-chr15:49545018..49547358,2	K562	blood:
2	chr15:49538461..49540714-chr15:49541925..49544059,3	K562	blood:

Extended variants
information (count: 103 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs1023683	1.00[ASN][1000 genomes]
rs10519221	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10519226	1.00[ASN][1000 genomes]
rs11630318	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11632038	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11632211	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11632303	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11632575	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11633282	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11634636	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11635005	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11635308	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11635354	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11635455	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11635814	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11638314	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11638515	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11638606	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11639423	1.00[ASN][1000 genomes]
rs12913966	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17394420	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17394970	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17396119	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17396536	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17396612	0.81[EUR][1000 genomes]
rs17396747	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17397211	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17400427	1.00[ASN][1000 genomes]
rs17400706	0.83[EUR][1000 genomes]
rs17400916	1.00[ASN][1000 genomes]
rs17473148	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17473568	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17476361	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17477722	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17478618	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17479003	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28393768	1.00[ASN][1000 genomes]
rs28408092	1.00[ASN][1000 genomes]
rs28409376	1.00[ASN][1000 genomes]
rs28430272	1.00[ASN][1000 genomes]
rs28484276	1.00[ASN][1000 genomes]
rs28669217	1.00[ASN][1000 genomes]
rs3088333	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34606419	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35692325	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57252806	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57560518	0.80[EUR][1000 genomes]
rs57749497	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57785991	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59112977	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60594237	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61259878	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61442055	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7162633	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7165168	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7167474	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7177624	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73390343	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73390360	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73390362	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73390384	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73390392	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73392233	0.80[EUR][1000 genomes]
rs73392236	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73392249	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73392256	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73392262	0.81[EUR][1000 genomes]
rs73392277	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73394324	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73394331	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73394333	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73394339	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73394355	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73394357	0.80[EUR][1000 genomes]
rs73394359	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73396235	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73396238	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73398223	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73398243	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73398272	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73398276	0.86[EUR][1000 genomes]
rs73398284	1.00[ASN][1000 genomes]
rs73408143	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8025550	0.80[EUR][1000 genomes]
rs8027094	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8030457	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8040716	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039220	chr15:49492509-49644261	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv569340	chr15:49529302-49547735	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv569341	chr15:49529302-49547790	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv569342	chr15:49529302-49549943	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv569343	chr15:49531192-49547790	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv569344	chr15:49534702-49546105	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv569345	chr15:49534702-49546939	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv569346	chr15:49534702-49547790	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv569347	chr15:49534702-49549943	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv569348	chr15:49540216-49546424	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv569349	chr15:49540216-49546574	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv569350	chr15:49540216-49546683	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv569351	chr15:49540216-49547146	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv569352	chr15:49540216-49547735	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv569353	chr15:49540216-49547790	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv569354	chr15:49540216-49549943	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs73392288	FGF7	cis	Muscle Skeletal	GTEx

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49518200-49548600	Weak transcription	Aorta	Aorta
2	chr15:49518600-49557600	Weak transcription	Esophagus	oesophagus
3	chr15:49520400-49595600	Weak transcription	Right Ventricle	heart
4	chr15:49522400-49559400	Weak transcription	Pancreas	Pancrea
5	chr15:49524600-49544800	Weak transcription	Lung	lung
6	chr15:49528000-49576000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr15:49528400-49547800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr15:49529200-49550600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr15:49529400-49544200	Weak transcription	Brain Anterior Caudate	brain
10	chr15:49529400-49545600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr15:49532000-49545000	Weak transcription	Fetal Thymus	thymus
12	chr15:49532800-49545400	Weak transcription	HUVEC	blood vessel
13	chr15:49533400-49548200	Weak transcription	HMEC	breast
14	chr15:49533800-49576200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr15:49535600-49557000	Weak transcription	Fetal Intestine Small	intestine
16	chr15:49535600-49564600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr15:49535600-49574200	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr15:49535600-49574200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr15:49535800-49545000	Weak transcription	Thymus	Thymus
20	chr15:49535800-49545600	Weak transcription	Fetal Intestine Large	intestine
21	chr15:49535800-49549200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr15:49535800-49563400	Weak transcription	NH-A	brain
23	chr15:49535800-49566800	Weak transcription	Left Ventricle	heart
24	chr15:49535800-49575800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr15:49536000-49546800	Weak transcription	Brain Cingulate Gyrus	brain
26	chr15:49536200-49547600	Weak transcription	Hela-S3	cervix
27	chr15:49536200-49549400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr15:49536200-49549800	Weak transcription	Fetal Muscle Trunk	muscle
29	chr15:49536200-49553200	Weak transcription	Primary B cells from cord blood	blood
30	chr15:49537600-49566000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr15:49537800-49549000	Weak transcription	Liver	Liver
32	chr15:49538600-49550400	Weak transcription	HSMM	muscle
33	chr15:49539400-49553200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr15:49539600-49543800	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr15:49539600-49544400	Weak transcription	Placenta	Placenta
36	chr15:49539600-49563000	Weak transcription	Ovary	ovary
37	chr15:49540000-49550400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr15:49540000-49550400	Weak transcription	NHDF-Ad	bronchial
39	chr15:49540000-49552200	Weak transcription	Fetal Muscle Leg	muscle
40	chr15:49540000-49566200	Weak transcription	K562	blood
41	chr15:49540000-49577600	Weak transcription	Small Intestine	intestine
42	chr15:49540200-49545600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr15:49540200-49552200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr15:49540600-49543200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr15:49540600-49557400	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr15:49540800-49548400	Weak transcription	Colon Smooth Muscle	Colon
47	chr15:49541000-49543200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr15:49541200-49543600	Weak transcription	Primary T cells from cord blood	blood
49	chr15:49541200-49547800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr15:49541400-49551400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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