Variant report

Variant	rs1463726
Chromosome Location	chr3:151031160-151031161
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	chr3:151031133-151031271	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:151029352..151032183-chr3:151038806..151040568,2	K562	blood:
2	chr3:151030125..151032431-chr3:151032844..151035971,3	MCF-7	breast:
3	chr3:151029509..151032122-chr3:151032305..151033931,2	K562	blood:
4	chr3:151029737..151031573-chr3:151044175..151046393,2	MCF-7	breast:

Variant related genes	Relation type
MED12L	TF binding region
ENSG00000144893	Chromatin interaction
ENSG00000138271	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs12106781	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16846673	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16863276	1.00[AMR][1000 genomes]
rs16863277	1.00[AMR][1000 genomes]
rs16863279	1.00[AMR][1000 genomes]
rs16863307	1.00[AMR][1000 genomes]
rs16863317	1.00[AMR][1000 genomes]
rs16863318	0.80[AFR][1000 genomes]
rs16863319	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16863320	0.83[AFR][1000 genomes]
rs16863331	0.82[AFR][1000 genomes]
rs56255408	0.82[AFR][1000 genomes]
rs56654214	1.00[AMR][1000 genomes]
rs56957964	0.89[AFR][1000 genomes]
rs58724507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59501054	1.00[AMR][1000 genomes]
rs60116140	0.89[AFR][1000 genomes]
rs60196145	0.80[AFR][1000 genomes]
rs60449267	1.00[AMR][1000 genomes]
rs61097635	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61514162	0.81[AFR][1000 genomes]
rs73006514	1.00[AMR][1000 genomes]
rs73006560	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73006586	0.89[AFR][1000 genomes]
rs73006587	0.89[AFR][1000 genomes]
rs73006595	0.84[AFR][1000 genomes]
rs73008503	0.89[AFR][1000 genomes]
rs73008504	0.86[AFR][1000 genomes]
rs73008505	0.80[AFR][1000 genomes]
rs73021193	1.00[AMR][1000 genomes]
rs73021198	1.00[AMR][1000 genomes]
rs73023004	1.00[AMR][1000 genomes]
rs73023014	1.00[AMR][1000 genomes]
rs73023047	1.00[AMR][1000 genomes]
rs73023066	1.00[AMR][1000 genomes]
rs73869016	0.80[AFR][1000 genomes]
rs73869165	1.00[AMR][1000 genomes]
rs7632688	1.00[AMR][1000 genomes]
rs7632738	1.00[AMR][1000 genomes]

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	nsv460894	chr3:150770614-151095093	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv592045	chr3:150770614-151095093	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	esv2754555	chr3:150968302-151054302	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:151002600-151044000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr3:151023200-151034600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:151024600-151032600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr3:151024600-151032800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr3:151025200-151032400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr3:151025600-151032400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr3:151025800-151032200	Weak transcription	Esophagus	oesophagus
8	chr3:151027600-151032200	Weak transcription	Hela-S3	cervix
9	chr3:151027600-151034400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr3:151028000-151032400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr3:151028600-151031200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr3:151030000-151031400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr3:151030200-151031400	Transcr. at gene 5' and 3'	NHEK	skin
14	chr3:151030200-151032600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr3:151030400-151038400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr3:151030600-151031200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr3:151030600-151031200	Enhancers	H1 Cell Line	embryonic stem cell
18	chr3:151030600-151031200	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr3:151030600-151031200	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr3:151030600-151031400	Transcr. at gene 5' and 3'	HMEC	breast
21	chr3:151030600-151031600	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr3:151030600-151031600	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr3:151030800-151031200	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr3:151030800-151031200	Transcr. at gene 5' and 3'	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr3:151030800-151031400	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr3:151031000-151032400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr3:151031000-151032600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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