Variant report

Variant	rs568903993
Chromosome Location	chr3:23985347-23985348
allele	A/C
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	TBL1XR1	chr3:23985342-23985676	K562	blood:	n/a	n/a
2	POLR2A	chr3:23985149-23985395	H1-hESC	embryonic stem cell:	n/a	n/a
3	MXI1	chr3:23985307-23988519	SK-N-SH	brain:	n/a	chr3:23987345-23987354
4	SIN3A	chr3:23985322-23985668	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:23954505..23971330-chr3:23977357..23992645,61	MCF-7	breast:
2	chr3:23956631..23966740-chr3:23975650..23993173,64	MCF-7	breast:

Variant related genes	Relation type
NR1D2	TF binding region
ENSG00000174748	Chromatin interaction
ENSG00000197885	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23962000-23985600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr3:23976800-23985600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr3:23979000-23985400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr3:23979200-23985600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr3:23980400-23985800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:23982200-23986000	Weak transcription	Right Atrium	heart
7	chr3:23985000-23985800	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr3:23985200-23985400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr3:23985200-23985400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr3:23985200-23985400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
11	chr3:23985200-23985400	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr3:23985200-23985600	Enhancers	H1 Cell Line	embryonic stem cell
13	chr3:23985200-23985600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:23985200-23985600	Enhancers	H9 Cell Line	embryonic stem cell
15	chr3:23985200-23985600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr3:23985200-23985600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr3:23985200-23985600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr3:23985200-23985600	Bivalent Enhancer	Fetal Thymus	thymus
19	chr3:23985200-23985600	Enhancers	K562	blood
20	chr3:23985200-23985800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr3:23985200-23985800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr3:23985200-23985800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr3:23985200-23985800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr3:23985200-23985800	Enhancers	Fetal Lung	lung
25	chr3:23985200-23985800	Bivalent Enhancer	HepG2	liver
26	chr3:23985200-23985800	Enhancers	NHLF	lung
27	chr3:23985200-23986000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr3:23985200-23986000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr3:23985200-23986000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr3:23985200-23986000	Enhancers	Hela-S3	cervix
31	chr3:23985200-23986200	Flanking Active TSS	Fetal Heart	heart
32	chr3:23985200-23986200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle

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