Variant report

Variant	rs542870032
Chromosome Location	chr3:140949380-140949381
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	POLR2A	chr3:140949337-140950966	NB4	blood:	n/a	n/a

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	chr3:140935203..140937852-chr3:140947812..140949717,2	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:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:140940000-140949400	Weak transcription	Fetal Heart	heart
2	chr3:140945600-140949800	Enhancers	Fetal Stomach	stomach
3	chr3:140945600-140950000	Enhancers	Fetal Lung	lung
4	chr3:140945800-140949600	Enhancers	Fetal Thymus	thymus
5	chr3:140946000-140949800	Enhancers	Fetal Intestine Small	intestine
6	chr3:140946000-140950000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr3:140946000-140950000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr3:140946600-140949400	Weak transcription	NH-A	brain
9	chr3:140946800-140949600	Enhancers	Thymus	Thymus
10	chr3:140947000-140949400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr3:140947000-140949400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr3:140947000-140949600	Weak transcription	HSMM	muscle
13	chr3:140947000-140949600	Weak transcription	HSMMtube	muscle
14	chr3:140947000-140949800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr3:140947200-140949600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr3:140947200-140949800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr3:140947400-140949400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:140947400-140949400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr3:140947600-140949600	Weak transcription	A549	lung
20	chr3:140947600-140950400	Flanking Active TSS	Dnd41	blood
21	chr3:140947800-140949600	Weak transcription	Fetal Brain Female	brain
22	chr3:140948000-140949600	Weak transcription	Gastric	stomach
23	chr3:140948200-140949600	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr3:140948200-140949800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
25	chr3:140948200-140949800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
26	chr3:140948200-140949800	Weak transcription	Brain Germinal Matrix	brain
27	chr3:140948400-140949600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
28	chr3:140948400-140949600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr3:140948400-140949600	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr3:140948400-140949800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr3:140948600-140949400	Weak transcription	Fetal Kidney	kidney
32	chr3:140948600-140949600	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr3:140948600-140949800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr3:140948600-140949800	Enhancers	Fetal Muscle Leg	muscle
35	chr3:140948600-140949800	Enhancers	Lung	lung
36	chr3:140948600-140949800	Enhancers	Pancreas	Pancrea
37	chr3:140948800-140949600	Enhancers	Primary T cells fromperipheralblood	blood
38	chr3:140948800-140949600	Enhancers	Fetal Brain Male	brain
39	chr3:140948800-140949800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
40	chr3:140948800-140949800	Enhancers	Fetal Muscle Trunk	muscle
41	chr3:140948800-140950000	Enhancers	HepG2	liver
42	chr3:140948800-140950200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr3:140949000-140949400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr3:140949000-140949600	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr3:140949000-140949600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr3:140949000-140949800	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
47	chr3:140949200-140949400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr3:140949200-140949600	Enhancers	Primary T cells from cord blood	blood
49	chr3:140949200-140949600	Enhancers	Primary hematopoietic stem cells	blood
50	chr3:140949200-140949600	Enhancers	Primary T helper naive cells from peripheral blood	blood

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