Variant report

Variant	rs73392277
Chromosome Location	chr15:49535969-49535970
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:49470915..49472999-chr15:49535845..49537993,2	K562	blood:
2	chr15:49535482..49538280-chr15:49538929..49540490,2	K562	blood:
3	chr15:49470039..49472415-chr15:49535845..49538837,2	K562	blood:
4	chr15:49527930..49530105-chr15:49533812..49536591,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259545	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:89)

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	0.96[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	0.96[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	1.00[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	0.96[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	0.90[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	0.96[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	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73392262	0.81[EUR][1000 genomes]
rs73392279	0.81[AFR][1000 genomes]
rs73392288	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73394308	0.81[AFR][1000 genomes]
rs73394324	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73394331	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73394333	1.00[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[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73396238	0.81[AFR][1000 genomes];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:9 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs73392277	FGF7	cis	Muscle Skeletal	GTEx

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49463600-49540200	Weak transcription	Colonic Mucosa	Colon
2	chr15:49492000-49539400	Weak transcription	Small Intestine	intestine
3	chr15:49510000-49541800	Weak transcription	NHEK	skin
4	chr15:49510200-49537000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr15:49518000-49541000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr15:49518200-49548600	Weak transcription	Aorta	Aorta
7	chr15:49518600-49557600	Weak transcription	Esophagus	oesophagus
8	chr15:49518800-49539200	Weak transcription	Ovary	ovary
9	chr15:49520400-49595600	Weak transcription	Right Ventricle	heart
10	chr15:49522000-49537800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr15:49522000-49538200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr15:49522000-49540400	Weak transcription	Stomach Mucosa	stomach
13	chr15:49522400-49559400	Weak transcription	Pancreas	Pancrea
14	chr15:49523800-49540200	Weak transcription	Spleen	Spleen
15	chr15:49524600-49539200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr15:49524600-49544800	Weak transcription	Lung	lung
17	chr15:49528000-49537200	Weak transcription	Brain Substantia Nigra	brain
18	chr15:49528000-49539600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr15:49528000-49576000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr15:49528400-49547800	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr15:49529000-49537000	Weak transcription	Brain Germinal Matrix	brain
22	chr15:49529200-49550600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr15:49529400-49539800	Weak transcription	Brain Hippocampus Middle	brain
24	chr15:49529400-49540200	Weak transcription	Fetal Brain Female	brain
25	chr15:49529400-49544200	Weak transcription	Brain Anterior Caudate	brain
26	chr15:49529400-49545600	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr15:49529600-49541600	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr15:49530000-49539200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr15:49530600-49536600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr15:49530600-49537800	Strong transcription	Liver	Liver
31	chr15:49530800-49536400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr15:49530800-49538600	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr15:49531000-49540400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr15:49531000-49540600	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr15:49531000-49542800	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr15:49531200-49536200	Strong transcription	Primary B cells from cord blood	blood
37	chr15:49531200-49538800	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr15:49531200-49540000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr15:49531400-49536000	Strong transcription	Primary B cells from peripheral blood	blood
40	chr15:49531400-49537800	Strong transcription	Duodenum Mucosa	Duodenum
41	chr15:49531600-49539400	Weak transcription	Psoas Muscle	Psoas
42	chr15:49531800-49539400	Weak transcription	Stomach Smooth Muscle	stomach
43	chr15:49532000-49545000	Weak transcription	Fetal Thymus	thymus
44	chr15:49532200-49536800	Weak transcription	Fetal Heart	heart
45	chr15:49532200-49539200	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr15:49532200-49539400	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr15:49532200-49542600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr15:49532600-49537000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr15:49532800-49545400	Weak transcription	HUVEC	blood vessel
50	chr15:49533000-49541400	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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