Variant report

Variant	rs143999002
Chromosome Location	chr3:118958382-118958383
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	RUNX3	chr3:118958160-118958640	GM12878	blood:	n/a	n/a
2	POLR2A	chr3:118958207-118960535	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr3:118958319-118959995	IMR90	lung:	n/a	n/a
4	MYC	chr3:118958217-118958417	MCF10A-Er-Src	breast:	n/a	n/a
5	MXI1	chr3:118958090-118960205	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr3:118958262-118960665	HepG2	liver:	n/a	n/a
7	FOS	chr3:118958199-118958410	MCF10A-Er-Src	breast:	n/a	n/a
8	SPI1	chr3:118958312-118958588	GM12891	blood:	n/a	chr3:118958480-118958493 chr3:118958482-118958491
9	E2F4	chr3:118958365-118958585	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr3:118958327-118958648	MCF10A-Er-Src	breast:	n/a	n/a
11	SPI1	chr3:118958371-118958666	GM12891	blood:	n/a	chr3:118958480-118958493 chr3:118958482-118958491
12	ZNF384	chr3:118958021-118958574	K562	blood:	n/a	n/a
13	SPI1	chr3:118958230-118958653	HL-60	blood:	n/a	chr3:118958480-118958493 chr3:118958482-118958491

No.	Distal block	Cell Line	Cell type
1	chr3:118957609..118959509-chr3:119217273..119218823,2	MCF-7	breast:
2	chr3:118944759..118947412-chr3:118958236..118960502,3	MCF-7	breast:
3	chr3:118952753..118957545-chr3:118958102..118959880,7	K562	blood:
4	chr3:118903933..118906787-chr3:118956775..118959458,2	MCF-7	breast:
5	chr3:118948409..118952425-chr3:118955700..118962526,10	K562	blood:
6	chr3:118943120..118945710-chr3:118958108..118960423,2	K562	blood:
7	chr3:118954516..118958209-chr3:118958247..118961418,8	MCF-7	breast:

Variant related genes	Relation type
B4GALT4	TF binding region
ENSG00000114638	Chromatin interaction
ENSG00000121578	Chromatin interaction
ENSG00000113845	Chromatin interaction
ENSG00000240254	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv18354	chr3:118855337-119000251	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv3405597	chr3:118958287-118960835	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:118924400-118959000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:118930200-118958400	Weak transcription	Hela-S3	cervix
3	chr3:118945800-118958600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:118948400-118958600	Weak transcription	Colonic Mucosa	Colon
5	chr3:118949000-118958400	Weak transcription	Fetal Brain Male	brain
6	chr3:118949400-118958800	Weak transcription	Lung	lung
7	chr3:118949600-118958400	Weak transcription	Brain Substantia Nigra	brain
8	chr3:118949600-118958600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:118949600-118958600	Weak transcription	Brain Germinal Matrix	brain
10	chr3:118949600-118958800	Weak transcription	Gastric	stomach
11	chr3:118949800-118958800	Weak transcription	Spleen	Spleen
12	chr3:118950000-118958400	Weak transcription	Fetal Brain Female	brain
13	chr3:118951600-118958800	Weak transcription	Esophagus	oesophagus
14	chr3:118952000-118958800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr3:118952600-118958400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr3:118952600-118958400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr3:118952800-118958600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr3:118953600-118958600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr3:118954600-118958400	Weak transcription	Aorta	Aorta
20	chr3:118954600-118958400	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr3:118954600-118958400	Weak transcription	Stomach Smooth Muscle	stomach
22	chr3:118954800-118958600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr3:118955000-118958600	Weak transcription	Fetal Muscle Trunk	muscle
24	chr3:118955000-118958600	Weak transcription	HSMMtube	muscle
25	chr3:118955800-118958600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr3:118956000-118958400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr3:118956000-118958400	Weak transcription	Fetal Muscle Leg	muscle
28	chr3:118956000-118958600	Weak transcription	Left Ventricle	heart
29	chr3:118956000-118958600	Weak transcription	Psoas Muscle	Psoas
30	chr3:118956000-118958800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr3:118956000-118958800	Weak transcription	Pancreas	Pancrea
32	chr3:118956800-118960000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr3:118956800-118960000	Active TSS	A549	lung
34	chr3:118957200-118958400	Active TSS	Duodenum Mucosa	Duodenum
35	chr3:118957200-118958400	Enhancers	Dnd41	blood
36	chr3:118957200-118958600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr3:118957200-118958600	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr3:118957200-118958600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr3:118957200-118958600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr3:118957200-118958800	Flanking Active TSS	Primary T cells from cord blood	blood
41	chr3:118957200-118959400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr3:118957200-118960200	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr3:118957400-118958400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr3:118957400-118958400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr3:118957400-118958400	Enhancers	Thymus	Thymus
46	chr3:118957400-118959400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr3:118957400-118960200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr3:118957400-118960200	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr3:118957400-118960200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr3:118957400-118960200	Active TSS	NHDF-Ad	bronchial

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