Variant report

Variant	rs567688312
Chromosome Location	chr3:140949724-140949725
allele	G/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	RCOR1	chr3:140949649-140949815	K562	blood:	n/a	n/a
2	MTA3	chr3:140949665-140950717	GM12878	blood:	n/a	n/a
3	POLR2A	chr3:140949628-140951109	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr3:140949337-140950966	NB4	blood:	n/a	n/a
5	POLR2A	chr3:140949460-140950726	GM12878	blood:	n/a	n/a
6	POLR2A	chr3:140949720-140950743	GM12878	blood:	n/a	n/a
7	POLR2A	chr3:140949680-140950863	PFSK-1	brain:	n/a	n/a
8	MYC	chr3:140949610-140950980	NB4	blood:	n/a	chr3:140950515-140950525 chr3:140950247-140950256 chr3:140950245-140950255
9	E2F6	chr3:140949655-140951024	H1-hESC	embryonic stem cell:	n/a	chr3:140950884-140950896 chr3:140949706-140949715 chr3:140950233-140950243
10	MAX	chr3:140949549-140950993	NB4	blood:	n/a	chr3:140950515-140950525 chr3:140950247-140950256 chr3:140950245-140950255

No.	Distal block	Cell Line	Cell type
1	chr3:140949328..140952346-chr3:140991131..140995521,4	MCF-7	breast:
2	chr3:140948029..140950002-chr3:141005104..141007914,2	MCF-7	breast:
3	chr3:140949685..140950639-chr3:140993821..140994433,2	MCF-7	breast:

Variant related genes	Relation type
ACPL2	TF binding region
ENSG00000155893	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	nsv460870	chr3:140938546-141005574	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv591892	chr3:140938546-141005574	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv3512631	chr3:140949362-140952160	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv3512632	chr3:140949362-140952160	Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:140945600-140949800	Enhancers	Fetal Stomach	stomach
2	chr3:140945600-140950000	Enhancers	Fetal Lung	lung
3	chr3:140946000-140949800	Enhancers	Fetal Intestine Small	intestine
4	chr3:140946000-140950000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr3:140946000-140950000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr3:140947000-140949800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr3:140947200-140949800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr3:140947600-140950400	Flanking Active TSS	Dnd41	blood
9	chr3:140948200-140949800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
10	chr3:140948200-140949800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
11	chr3:140948200-140949800	Weak transcription	Brain Germinal Matrix	brain
12	chr3:140948400-140949800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr3:140948600-140949800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr3:140948600-140949800	Enhancers	Fetal Muscle Leg	muscle
15	chr3:140948600-140949800	Enhancers	Lung	lung
16	chr3:140948600-140949800	Enhancers	Pancreas	Pancrea
17	chr3:140948800-140949800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
18	chr3:140948800-140949800	Enhancers	Fetal Muscle Trunk	muscle
19	chr3:140948800-140950000	Enhancers	HepG2	liver
20	chr3:140948800-140950200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr3:140949000-140949800	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
22	chr3:140949200-140949800	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr3:140949200-140949800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr3:140949200-140949800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr3:140949400-140949800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:140949400-140949800	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr3:140949400-140949800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr3:140949400-140949800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr3:140949400-140949800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr3:140949400-140949800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr3:140949400-140949800	Enhancers	Brain Angular Gyrus	brain
32	chr3:140949400-140949800	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr3:140949400-140949800	Enhancers	Colonic Mucosa	Colon
34	chr3:140949400-140949800	Enhancers	Fetal Intestine Large	intestine
35	chr3:140949400-140949800	Enhancers	Fetal Kidney	kidney
36	chr3:140949400-140949800	Enhancers	Right Ventricle	heart
37	chr3:140949400-140950000	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr3:140949400-140950000	Flanking Active TSS	Duodenum Mucosa	Duodenum
39	chr3:140949400-140950200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr3:140949600-140949800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
41	chr3:140949600-140949800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr3:140949600-140949800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
43	chr3:140949600-140949800	Enhancers	Muscle Satellite Cultured Cells	--
44	chr3:140949600-140949800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr3:140949600-140949800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr3:140949600-140949800	Enhancers	Liver	Liver
47	chr3:140949600-140949800	Enhancers	Brain Hippocampus Middle	brain
48	chr3:140949600-140949800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr3:140949600-140949800	Enhancers	Esophagus	oesophagus
50	chr3:140949600-140949800	Flanking Active TSS	Fetal Brain Female	brain

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