Variant report

Variant	rs11615600
Chromosome Location	chr12:117499586-117499587
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:117498452..117500621-chr12:117503397..117505307,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10507276	0.82[JPT][hapmap]
rs10744888	0.90[CEU][hapmap];0.90[TSI][hapmap];0.88[EUR][1000 genomes]
rs11068326	0.89[CEU][hapmap]
rs11608681	0.82[JPT][hapmap]
rs11609741	0.82[JPT][hapmap]
rs11609917	0.82[JPT][hapmap]
rs11610361	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11610984	0.82[JPT][hapmap]
rs11613556	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11614947	0.82[JPT][hapmap]
rs2062526	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2062527	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2062529	0.94[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2291910	1.00[CEU][hapmap];0.93[TSI][hapmap];0.93[EUR][1000 genomes]
rs55986180	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56228868	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6490100	0.82[JPT][hapmap]
rs7316090	0.89[CEU][hapmap]
rs7956233	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7976384	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519118	chr12:117386085-117521180	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv1804583	chr12:117472107-117525169	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11615600	SDS	cis	cerebellum	SCAN
rs11615600	FBXW8	cis	parietal	SCAN

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117486600-117500400	Weak transcription	Fetal Lung	lung
2	chr12:117487200-117500400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr12:117489600-117500400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr12:117491600-117500400	Weak transcription	GM12878-XiMat	blood
5	chr12:117494800-117509800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr12:117495200-117500600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr12:117495400-117502600	Weak transcription	A549	lung
8	chr12:117495600-117500400	Weak transcription	Primary B cells from peripheral blood	blood
9	chr12:117496000-117499600	Enhancers	Fetal Heart	heart
10	chr12:117496400-117499600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr12:117496600-117500000	Enhancers	Left Ventricle	heart
12	chr12:117497200-117500400	Weak transcription	Gastric	stomach
13	chr12:117497800-117499600	Enhancers	Right Ventricle	heart
14	chr12:117497800-117500800	Enhancers	Primary B cells from cord blood	blood
15	chr12:117497800-117506000	Enhancers	Primary hematopoietic stem cells	blood
16	chr12:117498000-117499600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:117498000-117499600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr12:117498000-117499600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr12:117498000-117499600	Enhancers	K562	blood
20	chr12:117498000-117500600	Enhancers	Fetal Thymus	thymus
21	chr12:117498200-117500600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr12:117498400-117499600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr12:117498400-117499600	Bivalent Enhancer	Fetal Muscle Leg	muscle
24	chr12:117498400-117499800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr12:117498400-117500600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr12:117498600-117500600	Enhancers	Primary T cells fromperipheralblood	blood
27	chr12:117498600-117500800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr12:117498600-117502000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr12:117498800-117499600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr12:117498800-117499800	Genic enhancers	Dnd41	blood
31	chr12:117498800-117500400	Enhancers	Primary T cells from cord blood	blood
32	chr12:117498800-117500600	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr12:117498800-117500600	Weak transcription	Adipose Nuclei	Adipose
34	chr12:117498800-117500800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr12:117498800-117500800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr12:117498800-117501000	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr12:117498800-117501000	Enhancers	Brain Anterior Caudate	brain
38	chr12:117498800-117501400	Enhancers	Stomach Mucosa	stomach
39	chr12:117498800-117514600	Strong transcription	HepG2	liver
40	chr12:117499000-117499600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
41	chr12:117499000-117499600	Enhancers	Spleen	Spleen
42	chr12:117499000-117499800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr12:117499000-117500400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr12:117499000-117500400	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr12:117499000-117500600	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr12:117499000-117500600	Weak transcription	Brain Hippocampus Middle	brain
47	chr12:117499000-117500800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr12:117499000-117500800	Weak transcription	Esophagus	oesophagus
49	chr12:117499000-117522000	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr12:117499200-117499800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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