Variant report

Variant	rs73964943
Chromosome Location	chr2:144975189-144975190
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:58867887..58870635-chr2:144973619..144975744,2	K562	blood:
2	chr2:144969090..144971736-chr2:144974441..144976361,2	K562	blood:
3	chr2:144973022..144976290-chr2:144977081..144979397,3	K562	blood:
4	chr2:144973677..144976739-chr2:144985420..144988733,3	K562	blood:
5	chr2:144974853..144977421-chr2:144981925..144983514,2	MCF-7	breast:
6	chr2:144974589..144979162-chr2:144981392..144986396,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000268049	Chromatin interaction
ENSG00000121964	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs55775060	0.90[AFR][1000 genomes]
rs56258437	0.85[AFR][1000 genomes]
rs57398691	0.85[AFR][1000 genomes]
rs57410426	0.85[AFR][1000 genomes]
rs57783534	0.85[AFR][1000 genomes]
rs58722310	0.85[AFR][1000 genomes]
rs59290279	0.85[AFR][1000 genomes]
rs59430219	0.85[AFR][1000 genomes]
rs60225630	0.85[AFR][1000 genomes]
rs60644335	0.85[AFR][1000 genomes]
rs60696610	0.85[AFR][1000 genomes]
rs61639522	0.85[AFR][1000 genomes]
rs73964942	0.85[AFR][1000 genomes]
rs73964944	0.85[AFR][1000 genomes]
rs73964945	0.85[AFR][1000 genomes]
rs73964947	0.85[AFR][1000 genomes]
rs73964949	0.85[AFR][1000 genomes]
rs73964951	0.85[AFR][1000 genomes]
rs73964952	0.85[AFR][1000 genomes]
rs73964953	0.85[AFR][1000 genomes]
rs73964956	0.85[AFR][1000 genomes]
rs73964957	0.85[AFR][1000 genomes]
rs73964962	0.85[AFR][1000 genomes]
rs73964964	0.85[AFR][1000 genomes]
rs73964965	0.85[AFR][1000 genomes]
rs73964969	0.85[AFR][1000 genomes]
rs73964970	0.85[AFR][1000 genomes]
rs73964972	0.85[AFR][1000 genomes]
rs73964973	0.85[AFR][1000 genomes]
rs73964974	0.85[AFR][1000 genomes]
rs73964975	0.85[AFR][1000 genomes]
rs73964976	0.90[AFR][1000 genomes]
rs73964977	0.85[AFR][1000 genomes]
rs73964979	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532755	chr2:144631279-145270874	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1006344	chr2:144657716-145334899	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv535951	chr2:144657716-145334899	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1067624	chr2:144657717-145425705	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv531413	chr2:144657717-145425705	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv532756	chr2:144746353-145315596	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv1008032	chr2:144840552-145234229	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
8	nsv834396	chr2:144842187-145019465	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv997624	chr2:144906679-145294503	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
10	nsv535952	chr2:144906679-145294503	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
11	nsv532757	chr2:144922143-145263446	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
12	nsv916172	chr2:144970681-145425713	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 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	chr2:144955800-144981200	Weak transcription	Fetal Intestine Large	intestine
2	chr2:144956200-144976000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:144956200-144985200	Weak transcription	Fetal Intestine Small	intestine
4	chr2:144959800-144975800	Weak transcription	NHLF	lung
5	chr2:144959800-144977600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:144960000-144975600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr2:144960000-144975800	Weak transcription	NHDF-Ad	bronchial
8	chr2:144962600-144998600	Weak transcription	Psoas Muscle	Psoas
9	chr2:144962800-144975600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr2:144963000-144978000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr2:144964400-144998200	Weak transcription	Fetal Kidney	kidney
12	chr2:144965400-145010000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:144965600-144992400	Weak transcription	Fetal Stomach	stomach
14	chr2:144965800-144977200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr2:144966200-144976000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:144966400-144978000	Weak transcription	Fetal Muscle Trunk	muscle
17	chr2:144966800-144977000	Weak transcription	Left Ventricle	heart
18	chr2:144970000-144975800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:144970000-144977000	Weak transcription	Spleen	Spleen
20	chr2:144974000-144975600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:144974000-144983400	Weak transcription	Aorta	Aorta
22	chr2:144974000-144983800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr2:144974000-144995200	Weak transcription	Primary B cells from cord blood	blood
24	chr2:144974200-144990000	Weak transcription	Primary hematopoietic stem cells	blood
25	chr2:144974600-144975200	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr2:144974800-144981400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr2:144975000-144975200	Weak transcription	K562	blood

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