Variant report

Variant	rs73964951
Chromosome Location	chr2:144985967-144985968
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:144985213..144988142-chr2:145276159..145278049,2	K562	blood:
2	chr2:144973677..144976739-chr2:144985420..144988733,3	K562	blood:
3	chr2:144959315..144961057-chr2:144985804..144987518,2	K562	blood:
4	chr2:144984610..144988238-chr2:145113704..145117959,3	K562	blood:
5	chr2:144979712..144981460-chr2:144984958..144987101,2	K562	blood:
6	chr2:144974589..144979162-chr2:144981392..144986396,5	MCF-7	breast:
7	chr2:144964243..144966732-chr2:144985702..144988124,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000169554	Chromatin interaction
ENSG00000238057	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs55637225	1.00[AMR][1000 genomes]
rs55775060	0.95[AFR][1000 genomes]
rs55915218	1.00[AMR][1000 genomes]
rs56001970	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56258437	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56396630	1.00[AMR][1000 genomes]
rs57183340	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57398691	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57410426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57677579	1.00[AMR][1000 genomes]
rs57783534	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58722310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59290279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59430219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59505116	1.00[AMR][1000 genomes]
rs60225630	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60644335	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60696610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61639522	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73962150	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	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73964942	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73964943	0.85[AFR][1000 genomes]
rs73964944	0.90[AFR][1000 genomes]
rs73964945	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73964947	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73964949	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73964952	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73964953	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73964955	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73964956	0.90[AFR][1000 genomes]
rs73964957	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73964962	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73964964	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73964965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73964969	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73964970	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73964972	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73964973	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73964974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73964975	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73964976	0.95[AFR][1000 genomes]
rs73964977	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73964979	1.00[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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:144962600-144998600	Weak transcription	Psoas Muscle	Psoas
2	chr2:144964400-144998200	Weak transcription	Fetal Kidney	kidney
3	chr2:144965400-145010000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:144965600-144992400	Weak transcription	Fetal Stomach	stomach
5	chr2:144974000-144995200	Weak transcription	Primary B cells from cord blood	blood
6	chr2:144974200-144990000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr2:144977400-144995200	Weak transcription	Left Ventricle	heart
8	chr2:144978400-144991000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:144978400-144991200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr2:144982400-144987000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:144982800-144987000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr2:144983000-144987000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr2:144983000-144987000	Weak transcription	K562	blood
14	chr2:144983200-144990200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr2:144984000-144994600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr2:144984200-144987000	Weak transcription	Brain Germinal Matrix	brain
17	chr2:144984600-144987000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr2:144985400-144988200	Weak transcription	NHDF-Ad	bronchial
19	chr2:144985400-144998400	Weak transcription	Small Intestine	intestine
20	chr2:144985600-144987000	Weak transcription	Brain Angular Gyrus	brain
21	chr2:144985600-144987200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr2:144985600-144990800	Weak transcription	Brain Anterior Caudate	brain
23	chr2:144985800-144987000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr2:144985800-144987000	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr2:144985800-144987200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr2:144985800-144987600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr2:144985800-144987800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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