Variant report

No.	Distal block	Cell Line	Cell type
1	chr3:43002914..43003748-chr3:43196890..43197718,3	K562	blood:
2	chr3:43002721..43003300-chr3:43196939..43197937,2	MCF-7	breast:
3	chr3:43001783..43003382-chr3:43196276..43199083,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs55788355	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56138798	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73829301	1.00[AMR][1000 genomes]
rs73832404	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73832405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73832408	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73832409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73832412	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73832414	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73832415	1.00[EUR][1000 genomes]
rs73832416	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv460522	chr3:42967597-43175207	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv590149	chr3:42967597-43175207	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42978400-43015400	Weak transcription	Pancreas	Pancrea
2	chr3:42978600-43020400	Weak transcription	Ovary	ovary
3	chr3:42983600-43003400	Weak transcription	Brain Hippocampus Middle	brain
4	chr3:42988400-43015400	Weak transcription	Placenta	Placenta
5	chr3:42994600-43006000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr3:43002800-43003600	Enhancers	Primary T cells from cord blood	blood
7	chr3:43003000-43003400	Enhancers	Stomach Mucosa	stomach
8	chr3:43003000-43003600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr3:43003000-43003600	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr3:43003000-43003600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr3:43003000-43003600	Enhancers	Liver	Liver
12	chr3:43003000-43003600	Enhancers	Brain Angular Gyrus	brain
13	chr3:43003000-43003600	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr3:43003000-43003600	Enhancers	Fetal Intestine Small	intestine
15	chr3:43003000-43003600	Enhancers	Rectal Smooth Muscle	rectum
16	chr3:43003000-43003600	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr3:43003000-43003800	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr3:43003000-43003800	Enhancers	Colon Smooth Muscle	Colon
19	chr3:43003000-43003800	Enhancers	Fetal Brain Male	brain
20	chr3:43003000-43003800	Enhancers	Fetal Brain Female	brain
21	chr3:43003000-43003800	Enhancers	Fetal Stomach	stomach
22	chr3:43003200-43003600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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