Variant report

Variant	rs928950
Chromosome Location	chr12:11908980-11908981
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10772505	0.88[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11054443	0.92[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.98[TSI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11615083	0.92[CEU][hapmap];0.86[CHB][hapmap];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1547393	0.84[CEU][hapmap];0.84[EUR][1000 genomes]
rs17210559	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs2051524	0.88[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3782137	0.92[CEU][hapmap];0.82[TSI][hapmap];0.86[EUR][1000 genomes]
rs4763723	0.92[CEU][hapmap];0.82[TSI][hapmap];0.86[EUR][1000 genomes]
rs7310017	0.82[CHB][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	nsv870039	chr12:11800363-11996598	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
2	nsv1053609	chr12:11898099-11933906	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs928950	KIAA1467	cis	cerebellum	SCAN

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11873200-11909400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr12:11885800-11911600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr12:11893200-11915000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr12:11895000-11912600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr12:11895400-11914400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr12:11900400-11910600	Weak transcription	Colonic Mucosa	Colon
7	chr12:11900600-11915000	Weak transcription	NHEK	skin
8	chr12:11901400-11911000	Weak transcription	Fetal Lung	lung
9	chr12:11902800-11910600	Weak transcription	Brain Angular Gyrus	brain
10	chr12:11902800-11910600	Weak transcription	Brain Hippocampus Middle	brain
11	chr12:11902800-11910600	Weak transcription	Brain Substantia Nigra	brain
12	chr12:11903200-11910200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr12:11903400-11910400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:11904000-11918000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:11904200-11913000	Strong transcription	Dnd41	blood
16	chr12:11904400-11910600	Genic enhancers	GM12878-XiMat	blood
17	chr12:11905200-11909600	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr12:11905200-11910400	Strong transcription	Fetal Stomach	stomach
19	chr12:11905200-11911400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr12:11905400-11910800	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr12:11905400-11911600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr12:11905600-11909600	Strong transcription	Primary T cells from cord blood	blood
23	chr12:11905600-11909600	Strong transcription	Lung	lung
24	chr12:11905800-11918400	Weak transcription	Fetal Brain Male	brain
25	chr12:11906000-11909200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr12:11906000-11909200	Strong transcription	Liver	Liver
27	chr12:11906000-11909800	Enhancers	Colon Smooth Muscle	Colon
28	chr12:11906000-11912000	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr12:11906200-11909000	Strong transcription	Fetal Muscle Leg	muscle
30	chr12:11906200-11909400	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr12:11906200-11910600	Weak transcription	Esophagus	oesophagus
32	chr12:11906200-11911000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr12:11906400-11909200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr12:11906400-11909400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr12:11906400-11909800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:11906400-11910400	Strong transcription	Primary B cells from cord blood	blood
37	chr12:11906400-11911000	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr12:11906400-11911200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:11906400-11918600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr12:11906600-11910200	Strong transcription	Primary B cells from peripheral blood	blood
41	chr12:11906600-11910600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr12:11906600-11911400	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr12:11906600-11911400	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr12:11906800-11909800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr12:11906800-11911000	Weak transcription	Stomach Mucosa	stomach
46	chr12:11906800-11911600	Weak transcription	Gastric	stomach
47	chr12:11906800-11915000	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr12:11906800-11915000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr12:11907000-11909000	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr12:11907000-11909000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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