Variant report

Variant	rs12418930
Chromosome Location	chr11:72681566-72681567
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	chr11:72533161..72535862-chr11:72680892..72683128,2	K562	blood:
2	chr11:72676395..72677930-chr11:72681229..72683225,2	K562	blood:

Variant related genes	Relation type
ENSG00000168010	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10898884	0.89[GIH][hapmap]
rs10898887	0.89[GIH][hapmap]
rs10898893	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11235639	0.93[CEU][hapmap];0.97[GIH][hapmap];0.86[TSI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11235641	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.89[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11235654	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs1126205	0.86[CHB][hapmap];0.82[CHD][hapmap];0.94[JPT][hapmap]
rs2003368	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2282613	0.82[CHB][hapmap]
rs3765638	0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap]
rs4515995	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs577217	0.88[JPT][hapmap]
rs724673	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7926133	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3394774	chr11:72320884-72694077	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats 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	73 gene(s)	inside rSNPs	diseases
2	esv2422418	chr11:72646518-72807865	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv555411	chr11:72647296-72800970	Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12418930	DNAJB13	cis	cerebellum	SCAN
rs12418930	KRTAP5-11	cis	cerebellum	SCAN
rs12418930	CCND1	cis	cerebellum	SCAN

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72633000-72684000	Weak transcription	Primary T cells from cord blood	blood
2	chr11:72636200-72694800	Weak transcription	Adipose Nuclei	Adipose
3	chr11:72636400-72712600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr11:72637000-72721600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:72649000-72721600	Weak transcription	Thymus	Thymus
6	chr11:72649600-72681600	Weak transcription	Aorta	Aorta
7	chr11:72651400-72696600	Weak transcription	Brain Anterior Caudate	brain
8	chr11:72653400-72681800	Weak transcription	Pancreas	Pancrea
9	chr11:72663200-72682600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr11:72663200-72683600	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr11:72665200-72681800	Weak transcription	Fetal Intestine Large	intestine
12	chr11:72665400-72681800	Weak transcription	Fetal Intestine Small	intestine
13	chr11:72666200-72689600	Weak transcription	Esophagus	oesophagus
14	chr11:72666600-72721600	Weak transcription	Lung	lung
15	chr11:72667000-72700600	Weak transcription	Brain Angular Gyrus	brain
16	chr11:72667200-72681600	Weak transcription	Right Atrium	heart
17	chr11:72667200-72681800	Weak transcription	Right Ventricle	heart
18	chr11:72669400-72689600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr11:72669800-72684800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:72669800-72721800	Weak transcription	Stomach Smooth Muscle	stomach
21	chr11:72671000-72689400	Weak transcription	Fetal Lung	lung
22	chr11:72671200-72687400	Weak transcription	Fetal Brain Female	brain
23	chr11:72672000-72682600	Weak transcription	Small Intestine	intestine
24	chr11:72673000-72708000	Weak transcription	Colon Smooth Muscle	Colon
25	chr11:72674600-72687200	Weak transcription	Placenta	Placenta
26	chr11:72675000-72681600	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr11:72675000-72681600	Weak transcription	Left Ventricle	heart
28	chr11:72675000-72683800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr11:72675000-72687400	Weak transcription	Fetal Muscle Leg	muscle
30	chr11:72675000-72692000	Weak transcription	Fetal Muscle Trunk	muscle
31	chr11:72675000-72692800	Weak transcription	HepG2	liver
32	chr11:72675200-72700600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:72675600-72687200	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr11:72675600-72696600	Weak transcription	Brain Substantia Nigra	brain
35	chr11:72675600-72696800	Weak transcription	Fetal Kidney	kidney
36	chr11:72675800-72690600	Weak transcription	Liver	Liver
37	chr11:72675800-72700800	Weak transcription	Spleen	Spleen
38	chr11:72677200-72681600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr11:72679400-72682000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr11:72679400-72687600	Enhancers	NHDF-Ad	bronchial
41	chr11:72679600-72687600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr11:72680000-72683000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr11:72680000-72683400	Enhancers	Dnd41	blood
44	chr11:72680000-72683600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr11:72680000-72684800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr11:72680000-72684800	Enhancers	Osteobl	bone
47	chr11:72680200-72682000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr11:72680200-72682000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr11:72680200-72682200	Enhancers	Primary hematopoietic stem cells	blood
50	chr11:72680200-72682200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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