Variant report

Variant	rs549073843
Chromosome Location	chr3:133178230-133178231
allele	A/G
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	GATA2	chr3:133178049-133178409	SH-SY5Y	brain:	n/a	n/a
2	POLR2A	chr3:133178162-133178579	PFSK-1	brain:	n/a	n/a
3	GATA3	chr3:133178119-133178606	T-47D	breast:	n/a	n/a
4	GATA3	chr3:133178152-133178579	T-47D	breast:	n/a	n/a
5	REST	chr3:133178199-133178461	PFSK-1	brain:	n/a	chr3:133178434-133178447
6	FOXA1	chr3:133178219-133178652	T-47D	breast:	n/a	n/a
7	FOXA1	chr3:133178217-133178560	T-47D	breast:	n/a	n/a
8	TCF7L2	chr3:133177631-133178713	PANC-1	pancreas:	n/a	chr3:133177802-133177811
9	SIN3AK20	chr3:133178185-133178410	PFSK-1	brain:	n/a	n/a
10	EP300	chr3:133178080-133178797	T-47D	breast:	n/a	chr3:133178208-133178222 chr3:133178583-133178596
11	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	chr3:133175597..133178522-chr3:133290456..133293347,3	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:38 , 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	chr3:133165400-133178600	Weak transcription	Aorta	Aorta
3	chr3:133168200-133178800	Weak transcription	Fetal Kidney	kidney
4	chr3:133169800-133179400	Weak transcription	GM12878-XiMat	blood
5	chr3:133172400-133178400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:133172400-133178400	Weak transcription	Stomach Mucosa	stomach
7	chr3:133173000-133178400	Weak transcription	HepG2	liver
8	chr3:133175000-133178800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr3:133175000-133179600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr3:133176200-133178400	Weak transcription	Placenta	Placenta
11	chr3:133176200-133178600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr3:133177200-133185800	Enhancers	Fetal Thymus	thymus
13	chr3:133177400-133180600	Enhancers	Thymus	Thymus
14	chr3:133177600-133181600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr3:133177800-133178600	Enhancers	A549	lung
16	chr3:133177800-133179000	Enhancers	Liver	Liver
17	chr3:133177800-133179200	Enhancers	Colon Smooth Muscle	Colon
18	chr3:133177800-133179600	Enhancers	Esophagus	oesophagus
19	chr3:133177800-133180000	Enhancers	Fetal Stomach	stomach
20	chr3:133178000-133178400	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr3:133178000-133179000	Enhancers	Stomach Smooth Muscle	stomach
22	chr3:133178000-133180800	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr3:133178200-133178400	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr3:133178200-133178600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr3:133178200-133178600	Enhancers	Fetal Muscle Trunk	muscle
26	chr3:133178200-133178600	Enhancers	Left Ventricle	heart
27	chr3:133178200-133178600	Enhancers	Ovary	ovary
28	chr3:133178200-133178600	Enhancers	Right Ventricle	heart
29	chr3:133178200-133179000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr3:133178200-133179000	Enhancers	Fetal Lung	lung
31	chr3:133178200-133179600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr3:133178200-133180000	Enhancers	Adipose Nuclei	Adipose
33	chr3:133178200-133180000	Enhancers	Psoas Muscle	Psoas
34	chr3:133178200-133180000	Enhancers	Right Atrium	heart
35	chr3:133178200-133180400	Enhancers	Fetal Muscle Leg	muscle
36	chr3:133178200-133180600	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr3:133178200-133181000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr3:133178200-133181400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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