Variant report

Variant	rs10844237
Chromosome Location	chr12:32701877-32701878
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10431226	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10431284	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	0.98[ASN][1000 genomes]
rs10844242	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11052063	0.91[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052068	0.81[JPT][hapmap]
rs1499615	0.91[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];0.81[JPT][hapmap];0.88[MEX][hapmap];0.89[TSI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1846553	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2088656	0.87[CEU][hapmap];0.90[CHB][hapmap];0.93[CHD][hapmap];0.90[GIH][hapmap];0.81[JPT][hapmap];0.89[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2133542	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4244859	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4931634	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4931635	0.89[CHD][hapmap];1.00[MEX][hapmap];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4931636	0.89[CHD][hapmap];0.81[JPT][hapmap];0.83[MEX][hapmap]
rs5006548	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6488062	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6488063	0.89[CHD][hapmap];0.88[MEX][hapmap];0.81[ASN][1000 genomes]
rs7303281	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7305459	0.91[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.91[JPT][hapmap];0.94[MEX][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7964106	0.89[CHD][hapmap];0.88[MEX][hapmap];0.81[ASN][1000 genomes]
rs7972677	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[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
rs10844237	DNM1L	cis	cerebellum	SCAN

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32668400-32702600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:32688600-32702600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr12:32689600-32702000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr12:32693000-32729600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:32695200-32702000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:32696000-32702600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr12:32696000-32704200	Enhancers	Ovary	ovary
8	chr12:32696200-32702200	Weak transcription	Fetal Kidney	kidney
9	chr12:32696200-32702800	Enhancers	Liver	Liver
10	chr12:32696600-32702000	Weak transcription	Fetal Intestine Small	intestine
11	chr12:32697400-32702200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:32697400-32704200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:32697800-32703200	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr12:32698400-32702200	Weak transcription	Primary B cells from cord blood	blood
15	chr12:32698400-32702400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:32698800-32719600	Weak transcription	Colonic Mucosa	Colon
17	chr12:32699200-32704200	Enhancers	Left Ventricle	heart
18	chr12:32699200-32705600	Enhancers	Psoas Muscle	Psoas
19	chr12:32699400-32702600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr12:32699400-32704200	Enhancers	Lung	lung
21	chr12:32699600-32714800	Weak transcription	Fetal Intestine Large	intestine
22	chr12:32699800-32702000	Weak transcription	Small Intestine	intestine
23	chr12:32700000-32711400	Weak transcription	HepG2	liver
24	chr12:32700400-32702200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr12:32700600-32703600	Enhancers	Fetal Muscle Leg	muscle
26	chr12:32700800-32702600	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr12:32701000-32702000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr12:32701000-32702000	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr12:32701000-32702000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr12:32701000-32702000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr12:32701000-32702000	Enhancers	NHEK	skin
32	chr12:32701000-32702200	Enhancers	Brain Substantia Nigra	brain
33	chr12:32701000-32702200	Enhancers	NHLF	lung
34	chr12:32701000-32702400	Enhancers	H1 Cell Line	embryonic stem cell
35	chr12:32701000-32702400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr12:32701000-32702600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr12:32701000-32702600	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr12:32701000-32702600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr12:32701000-32702600	Enhancers	NH-A	brain
40	chr12:32701000-32702800	Enhancers	HUVEC	blood vessel
41	chr12:32701000-32703000	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr12:32701000-32703000	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr12:32701000-32703000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr12:32701000-32703000	Enhancers	Fetal Lung	lung
45	chr12:32701000-32703000	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr12:32701000-32703200	Enhancers	Stomach Mucosa	stomach
47	chr12:32701200-32702000	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr12:32701200-32702200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr12:32701200-32702400	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr12:32701200-32702600	Enhancers	Rectal Mucosa Donor 31	rectum

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