Variant report

Variant	rs73438537
Chromosome Location	chr15:75328256-75328257
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:75327252..75330394-chr15:75331870..75333632,3	K562	blood:
2	chr15:75328230..75331978-chr15:75332760..75337360,5	MCF-7	breast:
3	chr15:75314427..75332274-chr15:75491598..75502885,56	MCF-7	breast:
4	chr15:75320623..75324392-chr15:75326315..75329283,4	K562	blood:
5	chr15:75316003..75319633-chr15:75325409..75329451,5	MCF-7	breast:
6	chr15:75325092..75330336-chr15:75334104..75338099,7	K562	blood:
7	chr15:75325092..75329638-chr15:75334104..75337267,7	K562	blood:
8	chr15:75327994..75330181-chr15:75492854..75495792,2	K562	blood:
9	chr15:75326538..75328460-chr15:75931013..75933331,2	K562	blood:
10	chr15:75328125..75329122-chr15:75493922..75494595,2	MCF-7	breast:
11	chr15:75327523..75330367-chr15:75338576..75340222,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000167173	Chromatin interaction
ENSG00000138621	Chromatin interaction
ENSG00000177971	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs12591175	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12591994	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12592477	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12593476	0.92[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12593542	0.85[ASN][1000 genomes]
rs12594117	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2289582	0.91[ASN][1000 genomes]
rs2304904	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28394281	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3812943	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3812946	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3816261	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3910748	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55877218	0.81[ASN][1000 genomes]
rs56828495	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56970592	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58068887	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58294763	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58403754	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58645417	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59094290	0.90[ASN][1000 genomes]
rs59303424	0.85[ASN][1000 genomes]
rs61166993	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6495135	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6495136	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6495137	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6495138	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6495140	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6495142	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6495146	0.85[ASN][1000 genomes]
rs6495148	0.83[ASN][1000 genomes]
rs7163390	0.85[ASN][1000 genomes]
rs7166105	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7167415	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7168638	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7172065	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7172715	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7172989	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7173218	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7174129	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7177109	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7179097	0.85[ASN][1000 genomes]
rs7181942	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7182286	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72475969	0.85[ASN][1000 genomes]
rs7342591	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7342601	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73432941	0.85[ASN][1000 genomes]
rs73436579	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73436586	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73438554	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73438569	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs74023908	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs74023935	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs74025863	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8024931	0.81[ASN][1000 genomes]
rs8031545	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8033125	0.83[ASN][1000 genomes]
rs8034149	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8036573	0.90[ASN][1000 genomes]
rs8038365	0.84[ASN][1000 genomes]
rs8039433	0.85[ASN][1000 genomes]
rs8040961	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9672926	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9672995	0.89[ASN][1000 genomes]
rs9672996	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9673012	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9788648	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv569993	chr15:75242155-75483752	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs73438537	SCAMP5	cis	lung	GTEx
rs73438537	SCAMP5	cis	Artery Tibial	GTEx
rs73438537	SCAMP5	cis	Thyroid	GTEx
rs73438537	SCAMP5	cis	Esophagus Mucosa	GTEx
rs73438537	PPCDC	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75316600-75336800	Weak transcription	Fetal Brain Female	brain
2	chr15:75316800-75338800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:75317200-75335000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr15:75318000-75341400	Weak transcription	Brain Germinal Matrix	brain
5	chr15:75322200-75330200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr15:75322200-75333400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr15:75322200-75335400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr15:75322200-75335400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr15:75322200-75339000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr15:75322400-75336800	Weak transcription	Primary T cells from cord blood	blood
11	chr15:75322400-75339200	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr15:75322600-75328400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr15:75322600-75330200	Weak transcription	NH-A	brain
14	chr15:75322600-75338600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr15:75322800-75329000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr15:75322800-75334200	Weak transcription	Brain Hippocampus Middle	brain
17	chr15:75322800-75335200	Weak transcription	Brain Anterior Caudate	brain
18	chr15:75322800-75335600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr15:75323000-75328400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr15:75323000-75328400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr15:75323000-75328400	Weak transcription	HSMM	muscle
22	chr15:75323000-75328600	Weak transcription	Colonic Mucosa	Colon
23	chr15:75323000-75330200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr15:75323000-75330600	Weak transcription	Psoas Muscle	Psoas
25	chr15:75323000-75334600	Weak transcription	Liver	Liver
26	chr15:75323000-75335000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr15:75323000-75335000	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr15:75323000-75335000	Weak transcription	Gastric	stomach
29	chr15:75323000-75335000	Weak transcription	NHLF	lung
30	chr15:75323000-75335200	Weak transcription	Brain Angular Gyrus	brain
31	chr15:75323000-75335400	Weak transcription	Aorta	Aorta
32	chr15:75323000-75335800	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr15:75323000-75336600	Weak transcription	Dnd41	blood
34	chr15:75323200-75328600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr15:75323200-75331400	Weak transcription	Fetal Lung	lung
36	chr15:75323200-75334400	Weak transcription	NHDF-Ad	bronchial
37	chr15:75323400-75334200	Weak transcription	Left Ventricle	heart
38	chr15:75323400-75334600	Weak transcription	Right Atrium	heart
39	chr15:75323400-75334600	Weak transcription	Stomach Smooth Muscle	stomach
40	chr15:75323400-75335000	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr15:75323400-75335000	Weak transcription	Brain Cingulate Gyrus	brain
42	chr15:75323400-75335600	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr15:75323600-75334200	Weak transcription	Right Ventricle	heart
44	chr15:75323600-75335000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr15:75323600-75336000	Weak transcription	Thymus	Thymus
46	chr15:75323800-75328800	Weak transcription	Esophagus	oesophagus
47	chr15:75324600-75329800	Enhancers	Fetal Intestine Large	intestine
48	chr15:75324600-75331600	Weak transcription	Spleen	Spleen
49	chr15:75324600-75334600	Weak transcription	Primary B cells from peripheral blood	blood
50	chr15:75324600-75335000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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