Variant report

Variant	rs7565251
Chromosome Location	chr2:208891144-208891145
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	chr2:208891020-208891341	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:208883906..208887647-chr2:208888508..208891752,4	MCF-7	breast:
2	chr2:208883791..208887954-chr2:208888473..208891537,5	MCF-7	breast:
3	chr2:208633363..208636354-chr2:208889689..208891369,2	MCF-7	breast:

Variant related genes	Relation type
PLEKHM3	TF binding region
ENSG00000163251	Chromatin interaction
ENSG00000212246	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10932224	0.82[EUR][1000 genomes]
rs12465292	0.84[CEU][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12471242	0.84[CEU][hapmap];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13431014	0.84[CEU][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1452521	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17459574	0.84[CEU][hapmap];0.97[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17459758	0.84[CEU][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17537670	0.84[CEU][hapmap];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17538061	0.81[EUR][1000 genomes]
rs2362787	0.83[EUR][1000 genomes]
rs28463196	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4502388	0.84[CEU][hapmap];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62190863	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62190896	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62190898	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62190900	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62190904	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62190905	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62192772	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62192773	0.89[EUR][1000 genomes]
rs6435402	0.84[CEU][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6740362	0.84[CEU][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72969822	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72981543	0.85[EUR][1000 genomes]
rs7588162	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs930745	0.84[CEU][hapmap];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]

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	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv875743	chr2:208688648-208940023	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:208890200-208891200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
2	chr2:208890400-208891200	Flanking Active TSS	Primary hematopoietic stem cells	blood
3	chr2:208890400-208891200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr2:208890800-208891200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr2:208890800-208891600	Enhancers	Placenta	Placenta
6	chr2:208890800-208895400	Weak transcription	Fetal Intestine Small	intestine
7	chr2:208890800-208896200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:208890800-208899400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:208891000-208891200	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr2:208891000-208891200	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr2:208891000-208891200	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr2:208891000-208891200	Active TSS	Monocytes-CD14+_RO01746	blood
13	chr2:208891000-208891400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr2:208891000-208891400	Enhancers	Dnd41	blood
15	chr2:208891000-208891800	Enhancers	HepG2	liver
16	chr2:208891000-208894800	Weak transcription	Psoas Muscle	Psoas
17	chr2:208891000-208895400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:208891000-208895400	Weak transcription	Fetal Intestine Large	intestine
19	chr2:208891000-208895400	Weak transcription	Lung	lung
20	chr2:208891000-208896000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:208891000-208896000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr2:208891000-208896000	Weak transcription	Adipose Nuclei	Adipose
23	chr2:208891000-208896200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:208891000-208896200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:208891000-208896200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:208891000-208896200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr2:208891000-208896400	Weak transcription	Stomach Smooth Muscle	stomach
28	chr2:208891000-208896400	Weak transcription	GM12878-XiMat	blood
29	chr2:208891000-208896400	Weak transcription	HMEC	breast
30	chr2:208891000-208904200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr2:208891000-208905400	Weak transcription	Rectal Smooth Muscle	rectum

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