Variant report

Variant	rs2088656
Chromosome Location	chr12:32693474-32693475
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:25)

rs_ID	r²[population]
rs10431226	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10431284	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]
rs10844237	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]
rs10844239	0.81[AMR][1000 genomes]
rs10844240	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10844241	0.82[AMR][1000 genomes]
rs10844242	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11052063	0.95[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11052066	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs1499615	1.00[ASW][hapmap];0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.88[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1846553	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2133542	0.93[ASN][1000 genomes]
rs4244859	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4931634	0.87[AMR][1000 genomes]
rs4931635	0.81[CHD][hapmap];0.83[LWK][hapmap];0.89[MKK][hapmap];0.87[AMR][1000 genomes]
rs4931636	0.81[CHD][hapmap];0.81[MEX][hapmap];0.84[YRI][hapmap];0.83[AMR][1000 genomes]
rs4931637	0.84[YRI][hapmap];0.83[AMR][1000 genomes]
rs5006548	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488062	0.87[AMR][1000 genomes]
rs6488063	0.81[CHD][hapmap];0.88[MEX][hapmap];0.88[MKK][hapmap];0.84[YRI][hapmap];0.87[AMR][1000 genomes]
rs6488064	0.82[AMR][1000 genomes]
rs7303281	0.95[ASN][1000 genomes]
rs7305459	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7964106	0.81[ASW][hapmap];0.81[CHD][hapmap];0.93[LWK][hapmap];0.88[MEX][hapmap];0.89[MKK][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7972677	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2088656	DNM1L	cis	cerebellum	SCAN

Chromatin state (count:89 , 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	chr12:32687800-32694800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:32688400-32701600	Weak transcription	Spleen	Spleen
4	chr12:32688600-32694200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:32688600-32697800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr12:32688600-32702600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr12:32688800-32693800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:32688800-32694200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:32688800-32694800	Weak transcription	Fetal Brain Female	brain
10	chr12:32689000-32693800	Weak transcription	Fetal Muscle Leg	muscle
11	chr12:32689000-32694200	Weak transcription	Fetal Intestine Large	intestine
12	chr12:32689000-32694400	Weak transcription	Fetal Intestine Small	intestine
13	chr12:32689000-32695200	Weak transcription	Colon Smooth Muscle	Colon
14	chr12:32689000-32698000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr12:32689000-32701400	Weak transcription	Brain Germinal Matrix	brain
16	chr12:32689200-32693600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr12:32689200-32694800	Enhancers	HepG2	liver
18	chr12:32689200-32697800	Weak transcription	Fetal Heart	heart
19	chr12:32689200-32701800	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr12:32689400-32694200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:32689600-32693800	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr12:32689600-32694000	Weak transcription	Hela-S3	cervix
23	chr12:32689600-32694800	Weak transcription	Fetal Lung	lung
24	chr12:32689600-32695000	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr12:32689600-32701600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr12:32689600-32702000	Weak transcription	Primary hematopoietic stem cells	blood
27	chr12:32689800-32693800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr12:32689800-32694800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:32689800-32694800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr12:32689800-32694800	Weak transcription	A549	lung
31	chr12:32690400-32694800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr12:32690400-32698200	Weak transcription	HSMMtube	muscle
33	chr12:32690400-32701600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:32690600-32694400	Weak transcription	Right Atrium	heart
35	chr12:32690600-32694800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr12:32690600-32694800	Weak transcription	Stomach Mucosa	stomach
37	chr12:32690600-32694800	Weak transcription	NHDF-Ad	bronchial
38	chr12:32690600-32699400	Weak transcription	Aorta	Aorta
39	chr12:32690600-32701000	Weak transcription	NH-A	brain
40	chr12:32690800-32695400	Weak transcription	HSMM	muscle
41	chr12:32690800-32697400	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr12:32691000-32694800	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr12:32691000-32695800	Weak transcription	Small Intestine	intestine
44	chr12:32691000-32698600	Weak transcription	Colonic Mucosa	Colon
45	chr12:32691200-32694000	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr12:32691200-32694200	Weak transcription	HUVEC	blood vessel
47	chr12:32691200-32694800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr12:32691200-32694800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr12:32691200-32695600	Weak transcription	Duodenum Mucosa	Duodenum
50	chr12:32691200-32695800	Weak transcription	Lung	lung

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