Variant report

Variant	rs9289447
Chromosome Location	chr3:133181146-133181147
allele	A/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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:133169398..133190840-chr3:133288286..133298861,41	MCF-7	breast:
2	chr3:133179282..133181210-chr3:133205623..133208031,2	MCF-7	breast:
3	chr3:133180154..133181710-chr3:133287523..133290190,2	MCF-7	breast:
4	chr3:133179819..133183044-chr3:133290517..133294355,4	MCF-7	breast:
5	chr3:133180499..133182281-chr3:133188502..133190705,2	MCF-7	breast:
6	chr3:133179034..133181660-chr3:133249507..133251496,2	MCF-7	breast:
7	chr3:133180327..133181853-chr3:133181928..133184881,2	MCF-7	breast:
8	chr3:133179746..133182359-chr3:133292415..133294343,2	K562	blood:
9	chr3:133153374..133155623-chr3:133178756..133181568,2	MCF-7	breast:
10	chr3:133173610..133177245-chr3:133178784..133182075,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000249993	Chromatin interaction
ENSG00000091527	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs1201674	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007047	chr3:133137664-133181388	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1006289	chr3:133137664-133186808	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv237800	chr3:133178030-133185521	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9289447	BFSP2	cis	lymphoblastoid	seeQTL

Chromatin state (count:48 , 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	chr3:133177200-133185800	Enhancers	Fetal Thymus	thymus
3	chr3:133177600-133181600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:133178200-133181400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr3:133178600-133181200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr3:133178600-133185600	Weak transcription	Left Ventricle	heart
7	chr3:133178800-133186800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:133179000-133182400	Weak transcription	Fetal Kidney	kidney
9	chr3:133179000-133187000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr3:133179400-133185600	Enhancers	GM12878-XiMat	blood
11	chr3:133179600-133181200	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr3:133179600-133181400	Enhancers	Hela-S3	cervix
13	chr3:133179600-133187400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr3:133180000-133182000	Weak transcription	Placenta	Placenta
15	chr3:133180000-133182200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr3:133180000-133182200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr3:133180000-133182200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr3:133180000-133182400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr3:133180000-133182400	Weak transcription	Colonic Mucosa	Colon
20	chr3:133180000-133183400	Weak transcription	Stomach Mucosa	stomach
21	chr3:133180000-133185600	Weak transcription	Right Atrium	heart
22	chr3:133180000-133187000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr3:133180000-133191000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr3:133180400-133182200	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr3:133180400-133182200	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr3:133180400-133182200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr3:133180400-133182200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr3:133180400-133182200	Weak transcription	Fetal Muscle Leg	muscle
29	chr3:133180400-133185200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr3:133180400-133185400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr3:133180400-133185600	Weak transcription	Esophagus	oesophagus
32	chr3:133180600-133182200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr3:133180600-133182200	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr3:133180600-133182200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr3:133180600-133183400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr3:133180600-133185200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr3:133180600-133185600	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr3:133180600-133185800	Weak transcription	HSMMtube	muscle
39	chr3:133180800-133181400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr3:133180800-133181400	Enhancers	H9 Cell Line	embryonic stem cell
41	chr3:133180800-133182200	Weak transcription	NHEK	skin
42	chr3:133180800-133182400	Weak transcription	HepG2	liver
43	chr3:133181000-133181400	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr3:133181000-133182000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr3:133181000-133182200	Weak transcription	Primary T cells from cord blood	blood
46	chr3:133181000-133182200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr3:133181000-133182200	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr3:133181000-133183200	Enhancers	Thymus	Thymus

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