Variant report

Variant	rs573016318
Chromosome Location	chr3:154796387-154796388
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	POLR2A	chr3:154796309-154799404	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr3:154796370-154798315	Raji	blood:	n/a	n/a
3	POLR2A	chr3:154795817-154801378	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:154794372..154796771-chr3:154800533..154803148,2	MCF-7	breast:
2	chr3:154788960..154792081-chr3:154794108..154796605,3	MCF-7	breast:

Variant related genes	Relation type
MME	TF binding region
ENSG00000196549	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868930	chr3:154076125-154820242	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1000140	chr3:154336261-154905740	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv534289	chr3:154535584-154987166	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv532663	chr3:154561578-154960353	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv999994	chr3:154579254-155175303	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv532664	chr3:154588346-155162615	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
7	nsv963491	chr3:154795648-154803797	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:154789000-154796600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr3:154789200-154796400	Weak transcription	HMEC	breast
3	chr3:154789200-154797400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:154789400-154796400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr3:154789600-154796400	Weak transcription	HUVEC	blood vessel
6	chr3:154789600-154796600	Weak transcription	HSMMtube	muscle
7	chr3:154794200-154796400	Enhancers	Dnd41	blood
8	chr3:154795000-154796600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr3:154795200-154796600	Weak transcription	K562	blood
10	chr3:154795800-154796600	Bivalent Enhancer	Fetal Brain Male	brain
11	chr3:154796000-154796400	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr3:154796000-154796600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr3:154796000-154796800	Flanking Active TSS	NHDF-Ad	bronchial
14	chr3:154796000-154802200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr3:154796200-154796400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
16	chr3:154796200-154796400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr3:154796200-154796400	Enhancers	Fetal Kidney	kidney
18	chr3:154796200-154796400	Enhancers	Placenta Amnion	Placenta Amnion
19	chr3:154796200-154796400	Enhancers	Osteobl	bone
20	chr3:154796200-154799600	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr3:154796200-154799600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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