Variant report

Variant	rs10431284
Chromosome Location	chr12:32700077-32700078
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10431226	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10844237	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10844240	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10844241	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10844242	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11052063	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11052066	0.82[AMR][1000 genomes]
rs11052068	0.85[YRI][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1499615	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.88[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1846553	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2088656	0.95[CEU][hapmap];0.90[CHB][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];0.90[JPT][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2133542	0.84[ASN][1000 genomes]
rs4244859	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4931634	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs4931635	0.89[CHD][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.85[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs4931636	0.89[CHD][hapmap];0.83[MEX][hapmap]
rs5006548	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6488062	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs6488063	0.89[CHD][hapmap];0.88[MEX][hapmap];0.84[MKK][hapmap];0.82[AMR][1000 genomes]
rs7303281	0.86[ASN][1000 genomes]
rs7305459	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.82[JPT][hapmap];0.92[LWK][hapmap];0.94[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7964106	0.89[CHD][hapmap];0.88[MEX][hapmap];0.85[MKK][hapmap];0.86[AMR][1000 genomes]
rs7972677	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531960	chr12:32257285-32775277	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	esv2751096	chr12:32280340-32702784	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1054191	chr12:32534619-32733066	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking 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	14 gene(s)	inside rSNPs	diseases
4	nsv541455	chr12:32534619-32733066	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	esv3342938	chr12:32551041-32716745	Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv1037224	chr12:32698189-32721994	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv541456	chr12:32698189-32721994	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10431284	DNM1L	cis	cerebellum	SCAN

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32668400-32702600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:32688400-32701600	Weak transcription	Spleen	Spleen
3	chr12:32688600-32702600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr12:32689000-32701400	Weak transcription	Brain Germinal Matrix	brain
5	chr12:32689200-32701800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr12:32689600-32701600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:32689600-32702000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr12:32690400-32701600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:32690600-32701000	Weak transcription	NH-A	brain
10	chr12:32693000-32729600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:32695200-32701000	Weak transcription	NHEK	skin
12	chr12:32695200-32701200	Weak transcription	HMEC	breast
13	chr12:32695200-32701800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:32695200-32702000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:32695600-32701000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:32695800-32701000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:32696000-32701200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:32696000-32701600	Weak transcription	Colon Smooth Muscle	Colon
19	chr12:32696000-32702600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr12:32696000-32704200	Enhancers	Ovary	ovary
21	chr12:32696200-32701400	Weak transcription	Duodenum Mucosa	Duodenum
22	chr12:32696200-32702200	Weak transcription	Fetal Kidney	kidney
23	chr12:32696200-32702800	Enhancers	Liver	Liver
24	chr12:32696400-32701400	Weak transcription	Gastric	stomach
25	chr12:32696400-32701600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:32696600-32701000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr12:32696600-32702000	Weak transcription	Fetal Intestine Small	intestine
28	chr12:32697400-32701200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr12:32697400-32702200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr12:32697400-32704200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr12:32697800-32703200	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr12:32698200-32700200	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr12:32698200-32700400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr12:32698200-32700600	Enhancers	Stomach Smooth Muscle	stomach
35	chr12:32698400-32701200	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr12:32698400-32702200	Weak transcription	Primary B cells from cord blood	blood
37	chr12:32698400-32702400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr12:32698800-32701000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr12:32698800-32701000	Weak transcription	HSMMtube	muscle
40	chr12:32698800-32701000	Weak transcription	HUVEC	blood vessel
41	chr12:32698800-32701000	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr12:32698800-32701000	Weak transcription	NHLF	lung
43	chr12:32698800-32701200	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr12:32698800-32701400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:32698800-32701400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr12:32698800-32701600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr12:32698800-32701600	Weak transcription	Fetal Brain Male	brain
48	chr12:32698800-32701600	Weak transcription	Placenta	Placenta
49	chr12:32698800-32719600	Weak transcription	Colonic Mucosa	Colon
50	chr12:32699200-32700200	Enhancers	Right Atrium	heart

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