Variant report

Variant	rs73980039
Chromosome Location	chr2:192056640-192056641
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:192053969..192056880-chr2:192076570..192078603,2	MCF-7	breast:
2	chr2:192053625..192055230-chr2:192055479..192058267,2	K562	blood:
3	chr2:192052233..192053787-chr2:192054344..192057259,2	MCF-7	breast:
4	chr2:192052421..192054862-chr2:192055710..192057421,2	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs3024845	1.00[AMR][1000 genomes]
rs56326388	1.00[AMR][1000 genomes]
rs61705630	1.00[AMR][1000 genomes]
rs73980006	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004656	chr2:191980778-192221650	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv536090	chr2:191980778-192221650	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv875623	chr2:192002538-192061869	Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:192037400-192067200	Weak transcription	Fetal Stomach	stomach
2	chr2:192054200-192057400	Weak transcription	Primary T cells from cord blood	blood
3	chr2:192054200-192058600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:192054400-192056800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr2:192054400-192057600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr2:192054400-192058400	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr2:192055200-192056800	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr2:192055400-192057000	Weak transcription	Dnd41	blood
9	chr2:192055400-192058400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:192055400-192060600	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr2:192055800-192058200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr2:192056000-192056800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:192056400-192056800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr2:192056400-192060200	Enhancers	Fetal Thymus	thymus
15	chr2:192056400-192061200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr2:192056600-192057200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr2:192056600-192057200	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr2:192056600-192057600	Weak transcription	HMEC	breast
19	chr2:192056600-192058200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr2:192056600-192058400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:192056600-192058400	Enhancers	Thymus	Thymus
22	chr2:192056600-192060000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr2:192056600-192060200	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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