Variant report

Variant	rs530709
Chromosome Location	chr11:74102378-74102379
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:74100543..74103930-chr11:74153911..74157152,3	MCF-7	breast:
2	chr11:74092361..74094901-chr11:74100930..74103322,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12416880	1.00[CEU][hapmap]
rs12417387	0.83[EUR][1000 genomes]
rs12417457	1.00[CEU][hapmap]
rs12417835	1.00[CEU][hapmap]
rs12421228	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs12421595	1.00[CEU][hapmap]
rs17132911	1.00[CEU][hapmap]
rs17132991	0.86[ASN][1000 genomes]
rs35893979	0.83[EUR][1000 genomes]
rs512641	0.86[ASN][1000 genomes]
rs60155023	0.86[ASN][1000 genomes]
rs644910	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73550769	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757451	chr11:73842609-74545888	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv2759837	chr11:73842609-74557597	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	esv34979	chr11:73878688-74533452	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv2758277	chr11:73887567-74557597	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv825994	chr11:73936667-74534455	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
6	nsv1049915	chr11:74052264-74126319	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers 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	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs530709	PGM2L1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74072400-74108000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr11:74079400-74105000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr11:74081000-74104000	Weak transcription	Fetal Brain Female	brain
4	chr11:74081400-74105000	Weak transcription	Thymus	Thymus
5	chr11:74081800-74108200	Weak transcription	Primary B cells from cord blood	blood
6	chr11:74084000-74108200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr11:74084600-74108200	Weak transcription	HSMMtube	muscle
8	chr11:74085400-74107800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr11:74087400-74108200	Weak transcription	HSMM	muscle
10	chr11:74092600-74108200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:74096000-74104600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr11:74096000-74108200	Weak transcription	Fetal Intestine Small	intestine
13	chr11:74099600-74102400	Enhancers	Primary T cells from cord blood	blood
14	chr11:74099600-74103200	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr11:74100200-74107800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr11:74100400-74105400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr11:74100400-74107600	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr11:74100400-74107600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr11:74100400-74107600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr11:74100400-74107800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr11:74100400-74107800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr11:74100400-74107800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr11:74100400-74107800	Weak transcription	HUVEC	blood vessel
24	chr11:74100600-74106600	Weak transcription	Fetal Thymus	thymus
25	chr11:74100800-74106600	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr11:74101000-74102800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr11:74101400-74103200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr11:74101600-74102600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr11:74101600-74102600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr11:74101800-74102400	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr11:74101800-74102800	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr11:74102000-74103200	Enhancers	Primary neutrophils fromperipheralblood	blood

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