Variant report

Variant	rs7939845
Chromosome Location	chr11:10467383-10467384
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr11:10467380-10467454	HepG2	liver:	n/a	n/a
2	CEBPB	chr11:10467260-10467445	A549	lung:	n/a	chr11:10467303-10467312 chr11:10467301-10467314 chr11:10467302-10467313
3	CEBPB	chr11:10467160-10467387	HepG2	liver:	n/a	chr11:10467303-10467312 chr11:10467301-10467314 chr11:10467302-10467313

No.	Distal block	Cell Line	Cell type
1	chr11:10466009..10469840-chr11:10470987..10473326,3	MCF-7	breast:
2	chr11:10466744..10468864-chr11:10475908..10478177,3	K562	blood:
3	chr11:10464906..10468864-chr11:10475520..10479355,5	K562	blood:
4	chr11:10466561..10468211-chr11:10473032..10475120,2	K562	blood:
5	chr11:10449274..10451855-chr11:10466562..10468948,2	K562	blood:

Variant related genes	Relation type
AMPD3	TF binding region
ENSG00000133805	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10840424	0.90[CEU][hapmap]
rs11042840	0.90[CEU][hapmap]
rs11042841	0.90[CEU][hapmap]
rs3802917	0.90[CEU][hapmap]
rs4909932	0.81[CHB][hapmap]
rs4910141	0.95[CEU][hapmap];0.81[CHB][hapmap];0.84[EUR][1000 genomes]
rs7113101	0.90[CEU][hapmap]
rs899011	0.95[CEU][hapmap];0.81[CHB][hapmap];0.91[GIH][hapmap];0.82[TSI][hapmap];0.81[EUR][1000 genomes]
rs899013	0.81[CHB][hapmap]

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	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv896990	chr11:10458596-10514707	Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv3475409	chr11:10464338-10470458	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv3475420	chr11:10464352-10470454	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7939845	AMPD3	cis	parietal	SCAN
rs7939845	DNHD1	cis	cerebellum	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10457600-10471800	Weak transcription	NHDF-Ad	bronchial
2	chr11:10462600-10467400	Enhancers	Primary B cells from peripheral blood	blood
3	chr11:10462600-10467600	Enhancers	Fetal Thymus	thymus
4	chr11:10462800-10467600	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr11:10464000-10471000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr11:10464000-10471000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr11:10464600-10471600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr11:10465400-10471000	Weak transcription	Primary B cells from cord blood	blood
9	chr11:10465600-10467400	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr11:10465600-10468200	Enhancers	Primary T cells from cord blood	blood
11	chr11:10465600-10472000	Weak transcription	Right Atrium	heart
12	chr11:10465800-10467400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr11:10466000-10469200	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr11:10466200-10467400	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr11:10466200-10467600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr11:10466200-10467600	Enhancers	Dnd41	blood
17	chr11:10466200-10468000	Enhancers	Thymus	Thymus
18	chr11:10466400-10467600	Enhancers	Primary T cells fromperipheralblood	blood
19	chr11:10466400-10467600	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr11:10466400-10467600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
21	chr11:10466400-10467600	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr11:10466600-10467400	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr11:10466600-10471400	Weak transcription	Spleen	Spleen
24	chr11:10466800-10471200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr11:10467000-10467400	Enhancers	Adipose Nuclei	Adipose
26	chr11:10467000-10471200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr11:10467000-10471200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr11:10467200-10471200	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr11:10467200-10471800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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