Variant report

Variant	rs2073493
Chromosome Location	chr3:46480702-46480703
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:46479732..46482447-chr3:46484213..46487607,4	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2269436	1.00[CEU][hapmap]
rs3213480	0.99[ASN][1000 genomes]
rs34390431	0.81[ASN][1000 genomes]
rs61303774	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs743658	1.00[CEU][hapmap]
rs7650157	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3323840	chr3:46352348-46497196	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv3389382	chr3:46352798-46496696	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1014624	chr3:46463424-46549188	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv1013306	chr3:46469014-46698538	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46455800-46496800	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr3:46459400-46491600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr3:46465200-46488800	Weak transcription	Left Ventricle	heart
4	chr3:46465200-46488800	Weak transcription	Right Ventricle	heart
5	chr3:46474800-46481800	Weak transcription	Primary B cells from cord blood	blood
6	chr3:46477400-46484200	Weak transcription	Fetal Intestine Small	intestine
7	chr3:46479000-46482200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr3:46479600-46480800	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr3:46479600-46485000	Enhancers	Primary T cells from cord blood	blood
10	chr3:46479600-46487000	Enhancers	Fetal Thymus	thymus
11	chr3:46479800-46480800	Enhancers	Brain Cingulate Gyrus	brain
12	chr3:46479800-46481000	Enhancers	Brain Hippocampus Middle	brain
13	chr3:46479800-46485000	Enhancers	Dnd41	blood
14	chr3:46480000-46481000	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr3:46480000-46481000	Enhancers	Brain Substantia Nigra	brain
16	chr3:46480200-46482200	Weak transcription	Fetal Brain Male	brain
17	chr3:46480200-46484200	Enhancers	Primary B cells from peripheral blood	blood
18	chr3:46480200-46504000	Weak transcription	Lung	lung
19	chr3:46480600-46480800	Enhancers	GM12878-XiMat	blood
20	chr3:46480600-46481000	Genic enhancers	Spleen	Spleen
21	chr3:46480600-46481200	Strong transcription	Gastric	stomach
22	chr3:46480600-46481600	Strong transcription	Adipose Nuclei	Adipose
23	chr3:46480600-46482200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr3:46480600-46482200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr3:46480600-46483000	Strong transcription	Pancreas	Pancrea
26	chr3:46480600-46483200	Weak transcription	Thymus	Thymus

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