Variant report

Variant	rs73964955
Chromosome Location	chr2:145000952-145000953
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:144989299..144991391-chr2:144999087..145001550,2	K562	blood:
2	chr2:144999947..145001996-chr2:145002716..145007051,3	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs55637225	1.00[AMR][1000 genomes]
rs55775060	0.85[AFR][1000 genomes]
rs55915218	1.00[AMR][1000 genomes]
rs56001970	1.00[AMR][1000 genomes]
rs56258437	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57183340	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57398691	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57410426	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57677579	1.00[AMR][1000 genomes]
rs57783534	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58722310	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59290279	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59430219	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59505116	1.00[AMR][1000 genomes]
rs60225630	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60644335	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60696610	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61639522	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73962193	1.00[AMR][1000 genomes]
rs73962196	1.00[AMR][1000 genomes]
rs73964914	1.00[AMR][1000 genomes]
rs73964919	1.00[AMR][1000 genomes]
rs73964925	1.00[AMR][1000 genomes]
rs73964931	1.00[AMR][1000 genomes]
rs73964932	1.00[AMR][1000 genomes]
rs73964942	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73964944	0.80[AFR][1000 genomes]
rs73964945	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73964947	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73964949	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73964951	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73964952	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73964953	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73964956	0.80[AFR][1000 genomes]
rs73964957	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73964962	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73964964	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73964965	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73964969	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73964970	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73964972	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73964973	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73964974	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73964975	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73964976	0.85[AFR][1000 genomes]
rs73964977	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73964979	0.90[AFR][1000 genomes];1.00[AMR][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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:144965400-145010000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:144996000-145003400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr2:144996000-145006000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:144999000-145010200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:144999400-145010000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:144999600-145005600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr2:144999800-145009800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr2:144999800-145010000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr2:144999800-145010200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr2:145000000-145005400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr2:145000200-145001800	Weak transcription	Fetal Lung	lung
12	chr2:145000400-145001400	Weak transcription	Primary B cells from cord blood	blood
13	chr2:145000800-145001600	Weak transcription	Primary B cells from peripheral blood	blood

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