Variant report

Variant	rs34063670
Chromosome Location	chr15:75247156-75247157
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:100)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:100 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF143	chr15:75246915-75247204	K562	blood:	n/a	chr15:75246939-75246957
2	MEF2A	chr15:75246850-75247210	K562	blood:	n/a	n/a
3	EP300	chr15:75246745-75247185	K562	blood:	n/a	chr15:75246940-75246956
4	JUND	chr15:75246784-75247294	K562	blood:	n/a	chr15:75246907-75246915
5	GATA3	chr15:75246539-75247275	SH-SY5Y	brain:	n/a	chr15:75246980-75247001
6	CREB1	chr15:75246590-75247366	K562	blood:	n/a	n/a
7	EP300	chr15:75246818-75247224	SK-N-SH_RA	brain:	n/a	chr15:75246940-75246956
8	MYC	chr15:75246763-75247160	K562	blood:	n/a	n/a
9	CBX3	chr15:75246714-75247265	K562	blood:	n/a	n/a
10	JUN	chr15:75246892-75247203	K562	blood:	n/a	chr15:75246907-75246915
11	CEBPD	chr15:75246571-75247336	K562	blood:	n/a	n/a
12	MXI1	chr15:75246247-75250049	SK-N-SH	brain:	n/a	n/a
13	ZKSCAN1	chr15:75247154-75247217	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr15:75246125-75250279	SK-N-MC	brain:	n/a	n/a
15	TBL1XR1	chr15:75246776-75247456	K562	blood:	n/a	n/a
16	RAD21	chr15:75246797-75247251	SK-N-SH_RA	brain:	n/a	n/a
17	RCOR1	chr15:75246535-75247324	K562	blood:	n/a	n/a
18	BCL3	chr15:75246771-75247257	K562	blood:	n/a	chr15:75247030-75247037
19	NR2F2	chr15:75246609-75247558	K562	blood:	n/a	n/a
20	REST	chr15:75246793-75247203	K562	blood:	n/a	chr15:75246933-75246946
21	GABPA	chr15:75246745-75247273	K562	blood:	n/a	n/a
22	POLR2A	chr15:75246706-75247321	K562	blood:	n/a	n/a
23	STAT5A	chr15:75246785-75247253	K562	blood:	n/a	chr15:75247123-75247135
24	MYC	chr15:75246892-75247189	K562	blood:	n/a	n/a
25	CCNT2	chr15:75246709-75247309	K562	blood:	n/a	chr15:75246940-75246949
26	IRF1	chr15:75246729-75247204	K562	blood:	n/a	n/a
27	PML	chr15:75246612-75247356	K562	blood:	n/a	n/a
28	ATF3	chr15:75246768-75247166	K562	blood:	n/a	n/a
29	FOSL1	chr15:75246847-75247158	K562	blood:	n/a	chr15:75246907-75246915
30	GATA2	chr15:75246746-75247253	K562	blood:	n/a	chr15:75246980-75247001 chr15:75246982-75246996
31	POLR2A	chr15:75246429-75250135	Hela-S3	cervix:	n/a	n/a
32	ARID3A	chr15:75246892-75247277	K562	blood:	n/a	n/a
33	MAX	chr15:75246820-75247164	K562	blood:	n/a	n/a
34	MEF2A	chr15:75246829-75247250	K562	blood:	n/a	n/a
35	POLR2A	chr15:75246641-75247457	K562	blood:	n/a	n/a
36	CHD2	chr15:75246906-75247186	K562	blood:	n/a	n/a
37	STAT5A	chr15:75246693-75247337	K562	blood:	n/a	chr15:75247123-75247135
38	TRIM28	chr15:75246627-75247300	K562	blood:	n/a	n/a
39	UBTF	chr15:75246826-75247604	K562	blood:	n/a	n/a
40	MAX	chr15:75246599-75247259	K562	blood:	n/a	n/a
41	CEBPD	chr15:75246695-75247320	K562	blood:	n/a	n/a
42	TEAD4	chr15:75246344-75247426	K562	blood:	n/a	n/a
43	GATA1	chr15:75246379-75247812	K562	blood:	n/a	chr15:75246980-75247001
44	GATA2	chr15:75246743-75247207	K562	blood:	n/a	chr15:75246980-75247001 chr15:75246982-75246996
45	SMARCA4	chr15:75246708-75247230	K562	blood:	n/a	n/a
46	ZBTB7A	chr15:75246661-75247210	K562	blood:	n/a	n/a
47	CEBPB	chr15:75246883-75247206	K562	blood:	n/a	n/a
48	REST	chr15:75246779-75247254	SK-N-SH	brain:	n/a	chr15:75246933-75246946
49	POLR2A	chr15:75246826-75247192	K562	blood:	n/a	n/a
50	POLR2A	chr15:75246938-75247581	Hela-S3	cervix:	n/a	n/a

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:75247055..75248613-chr15:75284445..75287146,2	K562	blood:
2	chr15:75228700..75232954-chr15:75245461..75250546,13	K562	blood:
3	chr15:75245998..75247980-chr15:75288102..75290194,2	MCF-7	breast:
4	chr15:75076309..75078257-chr15:75245859..75248166,2	K562	blood:
5	chr15:75133947..75135664-chr15:75246136..75249268,3	MCF-7	breast:
6	chr15:74906365..74908963-chr15:75246374..75249056,3	MCF-7	breast:
7	chr15:75155291..75158241-chr15:75246616..75248751,2	K562	blood:
8	chr15:75246590..75249281-chr15:75285572..75288569,4	MCF-7	breast:
9	chr15:75229128..75232091-chr15:75246040..75248486,3	MCF-7	breast:
10	chr15:75061339..75061843-chr15:75246601..75247580,2	K562	blood:
11	chr15:75226664..75233309-chr15:75245862..75252227,16	K562	blood:
12	chr15:75246752..75249656-chr15:75313121..75316891,3	K562	blood:
13	chr15:75246242..75248692-chr15:75492051..75494718,2	K562	blood:
14	chr15:75181382..75185367-chr15:75245501..75252189,8	K562	blood:
15	chr15:75074533..75077400-chr15:75247038..75249331,2	MCF-7	breast:
16	chr15:75197370..75200380-chr15:75247025..75249904,3	MCF-7	breast:
17	chr15:75197919..75201119-chr15:75247045..75249740,3	K562	blood:
18	chr15:75246342..75249068-chr15:75626976..75630362,3	K562	blood:
19	chr15:75117625..75119967-chr15:75247068..75249643,2	K562	blood:

No data

Variant related genes	Relation type
SCAMP5	TF binding region
ENSG00000138621	Chromatin interaction
ENSG00000178761	Chromatin interaction
ENSG00000260483	Chromatin interaction
ENSG00000167173	Chromatin interaction
ENSG00000140474	Chromatin interaction
ENSG00000260919	Chromatin interaction
ENSG00000198794	Chromatin interaction
ENSG00000213578	Chromatin interaction
ENSG00000179335	Chromatin interaction
ENSG00000103653	Chromatin interaction
ENSG00000178802	Chromatin interaction
ENSG00000178741	Chromatin interaction
ENSG00000140365	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11072514	0.83[AMR][1000 genomes]
rs1133323	0.81[AMR][1000 genomes]
rs11630087	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11630592	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11636892	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11639413	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11856413	0.81[AMR][1000 genomes]
rs12901190	0.85[AMR][1000 genomes]
rs12903370	0.83[AMR][1000 genomes]
rs12904326	0.81[AMR][1000 genomes]
rs12909335	0.81[AMR][1000 genomes]
rs12912343	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12912839	0.81[AMR][1000 genomes]
rs2044157	0.85[AMR][1000 genomes]
rs2415251	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34307821	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34799293	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35556055	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35882241	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4886413	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56338926	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62029217	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7495664	0.81[AMR][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:6)

SNP	Gene	Cis/trans	Tissue	Source
rs34063670	MPI	Cis_1M	lymphoblastoid	RTeQTL
rs34063670	SCAMP5	cis	Artery Tibial	GTEx
rs34063670	SCAMP2	Cis_1M	lymphoblastoid	RTeQTL
rs34063670	SCAMP5	cis	lung	GTEx
rs34063670	SCAMP2	cis	Whole Blood	GTEx
rs34063670	COX5A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75242800-75247200	Weak transcription	Brain Angular Gyrus	brain
2	chr15:75242800-75247600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr15:75242800-75248000	Weak transcription	Liver	Liver
4	chr15:75243000-75247800	Weak transcription	Brain Anterior Caudate	brain
5	chr15:75243000-75248200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr15:75243000-75248200	Weak transcription	HMEC	breast
7	chr15:75243200-75247200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr15:75243200-75248000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr15:75246200-75247400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr15:75246400-75247200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr15:75246400-75247400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr15:75246400-75247400	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr15:75246400-75247400	Enhancers	Right Ventricle	heart
14	chr15:75246400-75247400	Enhancers	Osteobl	bone
15	chr15:75246400-75247600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr15:75246400-75247600	Flanking Active TSS	Fetal Lung	lung
17	chr15:75246400-75247600	Flanking Active TSS	Hela-S3	cervix
18	chr15:75246400-75247800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr15:75246400-75247800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr15:75246400-75247800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr15:75246400-75247800	Enhancers	Brain Hippocampus Middle	brain
22	chr15:75246400-75247800	Enhancers	NHDF-Ad	bronchial
23	chr15:75246400-75248000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr15:75246400-75248000	Enhancers	Gastric	stomach
25	chr15:75246400-75248000	Enhancers	Spleen	Spleen
26	chr15:75246400-75248200	Enhancers	Fetal Heart	heart
27	chr15:75246400-75248200	Enhancers	Lung	lung
28	chr15:75246400-75248400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr15:75246400-75249000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr15:75246600-75247200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr15:75246600-75247200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr15:75246600-75247200	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr15:75246600-75247400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr15:75246600-75247400	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr15:75246600-75247400	Enhancers	Adipose Nuclei	Adipose
36	chr15:75246600-75248000	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr15:75246600-75248000	Enhancers	Pancreas	Pancrea
38	chr15:75246600-75248000	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr15:75246600-75248000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
40	chr15:75246600-75248000	Enhancers	NH-A	brain
41	chr15:75246600-75248200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr15:75246600-75248200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
43	chr15:75246600-75248200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
44	chr15:75246600-75248400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
45	chr15:75246600-75248400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
46	chr15:75246600-75248400	Enhancers	Small Intestine	intestine
47	chr15:75246600-75248600	Enhancers	Primary hematopoietic stem cells	blood
48	chr15:75246600-75248600	Enhancers	Stomach Mucosa	stomach
49	chr15:75246600-75248800	Flanking Active TSS	Duodenum Mucosa	Duodenum
50	chr15:75246600-75249000	Flanking Active TSS	Colonic Mucosa	Colon

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