Variant report

Variant	rs150550290
Chromosome Location	chr3:133178629-133178630
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr3:133178219-133178652	T-47D	breast:	n/a	n/a
2	TCF7L2	chr3:133177631-133178713	PANC-1	pancreas:	n/a	chr3:133177802-133177811
3	TAF1	chr3:133178479-133178840	PFSK-1	brain:	n/a	n/a
4	EP300	chr3:133178080-133178797	T-47D	breast:	n/a	chr3:133178208-133178222 chr3:133178583-133178596
5	POLR2A	chr3:133178090-133178633	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:133169398..133190840-chr3:133288286..133298861,41	MCF-7	breast:
2	chr3:133167608..133169678-chr3:133177159..133179764,2	MCF-7	breast:
3	chr3:133161498..133163430-chr3:133177580..133180492,2	MCF-7	breast:
4	chr3:133178497..133180168-chr3:133538134..133540708,2	MCF-7	breast:

Variant related genes	Relation type
BFSP2-AS1	TF binding region
ENSG00000170819	Chromatin interaction
ENSG00000091527	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

No data

Chromatin state (count:45 , 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	chr3:133168200-133178800	Weak transcription	Fetal Kidney	kidney
3	chr3:133169800-133179400	Weak transcription	GM12878-XiMat	blood
4	chr3:133175000-133178800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr3:133175000-133179600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:133177200-133185800	Enhancers	Fetal Thymus	thymus
7	chr3:133177400-133180600	Enhancers	Thymus	Thymus
8	chr3:133177600-133181600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr3:133177800-133179000	Enhancers	Liver	Liver
10	chr3:133177800-133179200	Enhancers	Colon Smooth Muscle	Colon
11	chr3:133177800-133179600	Enhancers	Esophagus	oesophagus
12	chr3:133177800-133180000	Enhancers	Fetal Stomach	stomach
13	chr3:133178000-133179000	Enhancers	Stomach Smooth Muscle	stomach
14	chr3:133178000-133180800	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr3:133178200-133179000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr3:133178200-133179000	Enhancers	Fetal Lung	lung
17	chr3:133178200-133179600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr3:133178200-133180000	Enhancers	Adipose Nuclei	Adipose
19	chr3:133178200-133180000	Enhancers	Psoas Muscle	Psoas
20	chr3:133178200-133180000	Enhancers	Right Atrium	heart
21	chr3:133178200-133180400	Enhancers	Fetal Muscle Leg	muscle
22	chr3:133178200-133180600	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr3:133178200-133181000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr3:133178200-133181400	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr3:133178400-133178800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr3:133178400-133178800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr3:133178400-133178800	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr3:133178400-133178800	Enhancers	Brain Hippocampus Middle	brain
29	chr3:133178400-133178800	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr3:133178400-133178800	Enhancers	HepG2	liver
31	chr3:133178400-133179400	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr3:133178400-133180000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:133178400-133180000	Enhancers	Colonic Mucosa	Colon
34	chr3:133178400-133180000	Enhancers	Placenta	Placenta
35	chr3:133178400-133180000	Enhancers	Stomach Mucosa	stomach
36	chr3:133178400-133180600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr3:133178600-133178800	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr3:133178600-133178800	Enhancers	HSMMtube	muscle
39	chr3:133178600-133179000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr3:133178600-133179000	Enhancers	Aorta	Aorta
41	chr3:133178600-133179000	Enhancers	Fetal Heart	heart
42	chr3:133178600-133179600	Weak transcription	A549	lung
43	chr3:133178600-133180000	Enhancers	Rectal Mucosa Donor 29	rectum
44	chr3:133178600-133181200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr3:133178600-133185600	Weak transcription	Left Ventricle	heart

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