Variant report

Variant	rs2017621
Chromosome Location	chr3:67414065-67414066
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1120653	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11715724	0.88[ASN][1000 genomes]
rs13091433	0.90[ASN][1000 genomes]
rs17046321	0.88[ASN][1000 genomes]
rs59619050	0.90[ASN][1000 genomes]
rs59624407	0.86[ASN][1000 genomes]
rs9812440	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	nsv1007093	chr3:67113534-67602973	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv470638	chr3:67367341-67814738	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv460700	chr3:67393629-67712970	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv590560	chr3:67393629-67712970	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv834719	chr3:67396626-67589852	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:67411200-67415000	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr3:67411200-67415000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr3:67411200-67415200	Enhancers	Primary hematopoietic stem cells	blood
4	chr3:67411600-67414200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr3:67412400-67453000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr3:67412600-67414800	Enhancers	Dnd41	blood
7	chr3:67412600-67417000	Weak transcription	Aorta	Aorta
8	chr3:67413000-67414200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr3:67413000-67414400	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr3:67413000-67414400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr3:67413200-67414400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr3:67413200-67419800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr3:67413200-67441800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr3:67413400-67414400	Enhancers	Primary T cells from cord blood	blood
15	chr3:67413400-67414800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr3:67413600-67414400	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr3:67413800-67414400	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr3:67413800-67415400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr3:67414000-67414200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr3:67414000-67414600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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