Variant report

Variant	rs10512901
Chromosome Location	chr3:133189032-133189033
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr3:133189009-133189347	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:133169398..133190840-chr3:133288286..133298861,41	MCF-7	breast:
2	chr3:133188275..133190710-chr3:133207235..133209417,3	MCF-7	breast:
3	chr3:133180499..133182281-chr3:133188502..133190705,2	MCF-7	breast:
4	chr3:133187924..133189921-chr3:133191881..133193928,2	MCF-7	breast:
5	chr3:133182278..133184590-chr3:133188280..133190685,2	MCF-7	breast:

No data

Variant related genes	Relation type
BFSP2	TF binding region
ENSG00000091527	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs13069027	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2141579	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2737717	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34763711	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7612063	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs931099	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829199	chr3:133158065-133213047	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv877505	chr3:133167363-133235272	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10512901	BFSP2	Cis_1M	lymphoblastoid	RTeQTL
rs10512901	BFSP2	cis	multi-tissue	Pritchard

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133161000-133191000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:133180000-133191000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:133181400-133191400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr3:133182600-133192600	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr3:133183000-133192800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr3:133183800-133191800	Weak transcription	Small Intestine	intestine
7	chr3:133184600-133190200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:133185800-133194200	Weak transcription	Gastric	stomach
9	chr3:133186000-133192800	Weak transcription	Colon Smooth Muscle	Colon
10	chr3:133186000-133193800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr3:133186000-133195600	Weak transcription	Right Ventricle	heart
12	chr3:133186200-133192800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr3:133186200-133193400	Weak transcription	Right Atrium	heart
14	chr3:133186200-133193800	Weak transcription	Esophagus	oesophagus
15	chr3:133186400-133190400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr3:133186400-133192000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr3:133186400-133193800	Weak transcription	Spleen	Spleen
18	chr3:133186800-133190200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr3:133186800-133194200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr3:133187200-133189200	Enhancers	Liver	Liver
21	chr3:133187200-133191200	Weak transcription	Primary B cells from cord blood	blood
22	chr3:133187200-133192000	Weak transcription	NHDF-Ad	bronchial
23	chr3:133187400-133189600	Weak transcription	Thymus	Thymus
24	chr3:133187400-133191200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr3:133187600-133191200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr3:133187600-133192800	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr3:133188200-133192000	Weak transcription	HSMMtube	muscle
28	chr3:133188400-133191200	Weak transcription	Placenta	Placenta
29	chr3:133188400-133192000	Weak transcription	HSMM	muscle
30	chr3:133188600-133189200	Enhancers	HepG2	liver
31	chr3:133188600-133189600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr3:133188800-133189600	Weak transcription	Fetal Thymus	thymus
33	chr3:133188800-133191000	Weak transcription	Primary B cells from peripheral blood	blood
34	chr3:133188800-133192600	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr3:133188800-133193000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr3:133188800-133193600	Weak transcription	Psoas Muscle	Psoas
37	chr3:133188800-133193800	Weak transcription	Left Ventricle	heart
38	chr3:133188800-133195800	Weak transcription	Pancreas	Pancrea
39	chr3:133189000-133189400	Weak transcription	GM12878-XiMat	blood
40	chr3:133189000-133191000	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr3:133189000-133192000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr3:133189000-133192600	Weak transcription	Adipose Nuclei	Adipose
43	chr3:133189000-133192800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr3:133189000-133192800	Weak transcription	Stomach Smooth Muscle	stomach

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