Variant report

Variant	rs73830723
Chromosome Location	chr3:46109250-46109251
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:46104564..46106749-chr3:46109061..46111797,3	K562	blood:
2	chr3:46106956..46110561-chr3:46110945..46113902,3	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs41366447	1.00[AMR][1000 genomes]
rs55640923	1.00[AMR][1000 genomes]
rs55751414	1.00[AMR][1000 genomes]
rs55931101	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56109512	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58433765	1.00[AMR][1000 genomes]
rs58770254	1.00[AMR][1000 genomes]
rs58794528	1.00[AMR][1000 genomes]
rs59159352	1.00[AMR][1000 genomes]
rs59998763	1.00[AMR][1000 genomes]
rs61610167	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6767478	1.00[AMR][1000 genomes]
rs73830718	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830721	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830727	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830729	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830731	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830753	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830760	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830761	1.00[AMR][1000 genomes]
rs73830766	1.00[AMR][1000 genomes]
rs73830778	1.00[AMR][1000 genomes]
rs73830799	1.00[AMR][1000 genomes]
rs73830801	1.00[AMR][1000 genomes]
rs73830802	1.00[AMR][1000 genomes]
rs73833003	1.00[AMR][1000 genomes]
rs73833004	1.00[AMR][1000 genomes]
rs73833024	1.00[AMR][1000 genomes]
rs73833037	1.00[AMR][1000 genomes]
rs7626037	1.00[AMR][1000 genomes]
rs7643001	1.00[AMR][1000 genomes]
rs9834935	1.00[AMR][1000 genomes]
rs9840179	1.00[AMR][1000 genomes]
rs9860832	1.00[AMR][1000 genomes]
rs9865446	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv498008	chr3:45733423-46319401	Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv2756987	chr3:46016464-46120400	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv2759145	chr3:46016464-46120400	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv1805205	chr3:46032847-46111081	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46103400-46113600	Enhancers	Primary T helper cells PMA-I stimulated	--
2	chr3:46103800-46113200	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr3:46103800-46114200	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr3:46104000-46113400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr3:46104200-46110000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr3:46104200-46110200	Enhancers	Primary T cells fromperipheralblood	blood
7	chr3:46104200-46113600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr3:46104400-46111800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr3:46104600-46114000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr3:46105000-46109800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr3:46105200-46111000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr3:46105400-46111000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr3:46106400-46111200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr3:46107000-46109800	Enhancers	Psoas Muscle	Psoas
15	chr3:46107200-46109400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr3:46107400-46113800	Enhancers	Primary T cells from cord blood	blood
17	chr3:46107600-46109600	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr3:46107600-46112200	Weak transcription	GM12878-XiMat	blood
19	chr3:46107600-46112800	Enhancers	Dnd41	blood
20	chr3:46107600-46114200	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr3:46107800-46109600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr3:46108200-46109400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr3:46108200-46112000	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr3:46108600-46109800	Enhancers	Right Atrium	heart
25	chr3:46108600-46109800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr3:46108800-46109400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr3:46108800-46109800	Enhancers	Right Ventricle	heart
28	chr3:46109000-46109400	Bivalent Enhancer	Fetal Muscle Leg	muscle
29	chr3:46109000-46109400	Enhancers	Pancreas	Pancrea
30	chr3:46109000-46109600	Enhancers	Adipose Nuclei	Adipose
31	chr3:46109000-46109800	Enhancers	Fetal Thymus	thymus
32	chr3:46109000-46110200	Enhancers	Fetal Heart	heart
33	chr3:46109200-46109800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
34	chr3:46109200-46109800	Enhancers	Liver	Liver
35	chr3:46109200-46109800	Enhancers	Small Intestine	intestine

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