Variant report

Variant	rs12509265
Chromosome Location	chr4:100428660-100428661
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1503775	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1583971	0.81[ASN][1000 genomes]
rs1847370	1.00[CEU][hapmap]
rs2083685	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72905000	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72906741	0.80[EUR][1000 genomes]
rs72906743	0.85[EUR][1000 genomes]
rs72906744	0.85[EUR][1000 genomes]
rs72906745	0.85[EUR][1000 genomes]
rs72906751	0.85[EUR][1000 genomes]
rs7669241	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv879656	chr4:99976646-100533722	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1010988	chr4:100105463-100444445	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1000659	chr4:100117276-100444445	Enhancers Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv1847619	chr4:100321443-100430924	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv3584519	chr4:100323870-100477462	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100425200-100431200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
2	chr4:100425400-100429000	Enhancers	Primary T cells fromperipheralblood	blood
3	chr4:100425600-100430800	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr4:100425600-100431200	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr4:100425800-100430800	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr4:100427800-100429200	Enhancers	HMEC	breast
7	chr4:100427800-100430000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr4:100427800-100430400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr4:100427800-100431000	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr4:100428000-100429000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:100428000-100429400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:100428000-100429400	Enhancers	NHEK	skin
13	chr4:100428000-100430400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr4:100428000-100431000	Enhancers	Primary T cells from cord blood	blood
15	chr4:100428200-100430000	Enhancers	Dnd41	blood
16	chr4:100428400-100429200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr4:100428600-100429200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:100428600-100429600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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