Variant report

Variant	rs115651038
Chromosome Location	chr3:23985655-23985656
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	chr3:23985621-23985947	HepG2	liver:	n/a	n/a
2	TBL1XR1	chr3:23985342-23985676	K562	blood:	n/a	n/a
3	MYC	chr3:23985630-23988292	K562	blood:	n/a	chr3:23988135-23988144 chr3:23986729-23986739 chr3:23987160-23987170 chr3:23985779-23985795 chr3:23987346-23987355 chr3:23987347-23987354 chr3:23987882-23987891 chr3:23987345-23987355 chr3:23987346-23987355 chr3:23987345-23987356
4	CEBPB	chr3:23985542-23985860	K562	blood:	n/a	n/a
5	MYC	chr3:23985627-23988307	K562	blood:	n/a	chr3:23988135-23988144 chr3:23986729-23986739 chr3:23987160-23987170 chr3:23985779-23985795 chr3:23987346-23987355 chr3:23987347-23987354 chr3:23987882-23987891 chr3:23987345-23987355 chr3:23987346-23987355 chr3:23987345-23987356
6	CHD1	chr3:23985638-23986183	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr3:23985541-23990663	H1-hESC	embryonic stem cell:	n/a	n/a
8	MXI1	chr3:23985307-23988519	SK-N-SH	brain:	n/a	chr3:23987345-23987354
9	CEBPB	chr3:23985626-23985735	H1-hESC	embryonic stem cell:	n/a	n/a
10	SIN3A	chr3:23985322-23985668	H1-hESC	embryonic stem cell:	n/a	n/a
11	FOXA2	chr3:23985618-23985856	HepG2	liver:	n/a	n/a
12	JUN	chr3:23985618-23985684	H1-hESC	embryonic stem cell:	n/a	n/a
13	USF1	chr3:23985593-23986001	H1-hESC	embryonic stem cell:	n/a	n/a
14	FOXA1	chr3:23985565-23985854	HepG2	liver:	n/a	n/a
15	FOXA1	chr3:23985608-23985856	HepG2	liver:	n/a	n/a
16	MXI1	chr3:23985536-23988397	IMR90	lung:	n/a	chr3:23987345-23987354

No.	Distal block	Cell Line	Cell type
1	chr3:23954505..23971330-chr3:23977357..23992645,61	MCF-7	breast:
2	chr3:23956631..23966740-chr3:23975650..23993173,64	MCF-7	breast:
3	chr3:23985538..23993367-chr3:23993730..24003801,19	MCF-7	breast:

Variant related genes	Relation type
NR1D2	TF binding region
ENSG00000197885	Chromatin interaction
ENSG00000174748	Chromatin interaction
ENSG00000174738	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	nsv533980	chr3:23445901-24311972	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv834638	chr3:23963860-24117191	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	esv3449153	chr3:23984948-23988646	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
4	esv3406325	chr3:23985473-23988321	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
5	esv3425301	chr3:23985548-23988496	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23980400-23985800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:23982200-23986000	Weak transcription	Right Atrium	heart
3	chr3:23985000-23985800	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr3:23985200-23985800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr3:23985200-23985800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr3:23985200-23985800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr3:23985200-23985800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr3:23985200-23985800	Enhancers	Fetal Lung	lung
9	chr3:23985200-23985800	Bivalent Enhancer	HepG2	liver
10	chr3:23985200-23985800	Enhancers	NHLF	lung
11	chr3:23985200-23986000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr3:23985200-23986000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr3:23985200-23986000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr3:23985200-23986000	Enhancers	Hela-S3	cervix
15	chr3:23985200-23986200	Flanking Active TSS	Fetal Heart	heart
16	chr3:23985200-23986200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr3:23985400-23985800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr3:23985400-23985800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr3:23985400-23985800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
20	chr3:23985400-23985800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
21	chr3:23985400-23985800	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr3:23985400-23985800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr3:23985400-23985800	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr3:23985400-23985800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr3:23985400-23985800	Enhancers	Liver	Liver
26	chr3:23985400-23985800	Enhancers	Fetal Stomach	stomach
27	chr3:23985400-23986000	Enhancers	Placenta	Placenta
28	chr3:23985400-23986200	Enhancers	Primary B cells from peripheral blood	blood
29	chr3:23985400-23986600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr3:23985600-23985800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr3:23985600-23985800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr3:23985600-23985800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr3:23985600-23985800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr3:23985600-23985800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr3:23985600-23985800	Enhancers	Primary B cells from cord blood	blood
36	chr3:23985600-23985800	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr3:23985600-23985800	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr3:23985600-23985800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr3:23985600-23985800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr3:23985600-23985800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr3:23985600-23985800	Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr3:23985600-23985800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr3:23985600-23985800	Enhancers	Adipose Nuclei	Adipose
44	chr3:23985600-23985800	Enhancers	Brain Angular Gyrus	brain
45	chr3:23985600-23985800	Flanking Active TSS	Brain Anterior Caudate	brain
46	chr3:23985600-23985800	Enhancers	Brain Hippocampus Middle	brain
47	chr3:23985600-23985800	Enhancers	Colon Smooth Muscle	Colon
48	chr3:23985600-23985800	Enhancers	Fetal Brain Male	brain
49	chr3:23985600-23985800	Enhancers	Pancreatic Islets	Pancreatic Islet
50	chr3:23985600-23985800	Enhancers	Rectal Smooth Muscle	rectum

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