Variant report

Variant	rs13216911
Chromosome Location	chr6:37589750-37589751
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:37583937..37586472-chr6:37588985..37590758,2	K562	blood:
2	chr6:37587258..37590079-chr6:37590589..37593405,2	K562	blood:
3	chr6:37589204..37591463-chr6:37593402..37596526,3	K562	blood:
4	chr6:37583299..37586472-chr6:37588985..37593847,4	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12663898	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12665558	0.89[ASN][1000 genomes]
rs12665609	0.89[ASN][1000 genomes]
rs13199706	0.88[ASN][1000 genomes]
rs13217481	0.88[ASN][1000 genomes]
rs13217642	0.89[ASN][1000 genomes]
rs1883898	0.89[ASN][1000 genomes]
rs34207353	0.88[ASN][1000 genomes]
rs34278717	0.88[ASN][1000 genomes]
rs34952823	0.88[ASN][1000 genomes]
rs35238957	0.88[ASN][1000 genomes]
rs66497557	0.96[ASN][1000 genomes]
rs67395334	0.96[ASN][1000 genomes]
rs72846588	0.88[ASN][1000 genomes]
rs804821	0.80[ASN][1000 genomes]
rs9349049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9366942	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9369014	0.85[ASN][1000 genomes]
rs9380693	0.96[ASN][1000 genomes]
rs9380694	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9394443	0.96[ASN][1000 genomes]
rs9394444	0.88[ASN][1000 genomes]
rs9470648	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9637970	0.96[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	esv2752124	chr6:37416219-37680622	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1024016	chr6:37567651-37981590	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv602955	chr6:37581200-37599962	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs13216911	PIM1	cis	parietal	SCAN
rs13216911	UNC5CL	cis	cerebellum	SCAN
rs13216911	TCP11	cis	parietal	SCAN
rs13216911	DEF6	cis	parietal	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37584400-37590600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr6:37586200-37592400	Weak transcription	Right Atrium	heart
3	chr6:37586600-37592400	Enhancers	Primary B cells from peripheral blood	blood
4	chr6:37586600-37593800	Enhancers	Primary B cells from cord blood	blood
5	chr6:37587000-37592600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr6:37587200-37590600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr6:37587200-37592800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:37587400-37590400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr6:37587400-37590600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr6:37587400-37590600	Weak transcription	HMEC	breast
11	chr6:37587400-37592000	Weak transcription	Fetal Brain Male	brain
12	chr6:37587600-37590400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr6:37587600-37592400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr6:37587800-37590600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:37587800-37590600	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr6:37587800-37591600	Weak transcription	NH-A	brain
17	chr6:37587800-37592400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr6:37588000-37590000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr6:37588000-37590600	Weak transcription	Spleen	Spleen
20	chr6:37588000-37592000	Weak transcription	Brain Germinal Matrix	brain
21	chr6:37588200-37589800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr6:37588200-37590600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr6:37588200-37590600	Weak transcription	Fetal Thymus	thymus
24	chr6:37588400-37589800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr6:37588400-37590600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr6:37588600-37590200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr6:37588800-37589800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr6:37589000-37590000	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr6:37589200-37590200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr6:37589200-37593200	Enhancers	Primary T helper cells PMA-I stimulated	--

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