Variant report

Variant	rs7305459
Chromosome Location	chr12:32696010-32696011
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:32695546..32697352-chr12:32831391..32833576,2	K562	blood:

Variant related genes	Relation type
ENSG00000087470	Chromatin interaction

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

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

rs_ID	r²[population]
rs10431226	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10431284	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]
rs10844237	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]
rs10844240	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10844241	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10844242	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11052063	1.00[CEU][hapmap];0.81[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11052066	0.83[AMR][1000 genomes]
rs11052068	0.85[YRI][hapmap];0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs1499615	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[CHD][hapmap];0.92[GIH][hapmap];0.83[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1846553	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2088656	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]
rs2133542	0.89[ASN][1000 genomes]
rs4244859	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4931634	0.89[AMR][1000 genomes]
rs4931635	0.89[CHD][hapmap];0.94[MEX][hapmap];0.85[YRI][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs4931636	0.89[CHD][hapmap]
rs5006548	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6488062	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs6488063	0.89[CHD][hapmap];0.83[MEX][hapmap];0.83[AMR][1000 genomes]
rs7303281	0.91[ASN][1000 genomes]
rs7964106	0.89[CHD][hapmap];0.83[MEX][hapmap];0.86[AMR][1000 genomes]
rs7972677	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[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
rs7305459	DNM1L	cis	cerebellum	SCAN

Chromatin state (count:94 , 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	chr12:32688600-32697800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr12:32688600-32702600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr12:32689000-32698000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr12:32689000-32701400	Weak transcription	Brain Germinal Matrix	brain
7	chr12:32689200-32697800	Weak transcription	Fetal Heart	heart
8	chr12:32689200-32701800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr12:32689600-32701600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:32689600-32702000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr12:32690400-32698200	Weak transcription	HSMMtube	muscle
12	chr12:32690400-32701600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:32690600-32699400	Weak transcription	Aorta	Aorta
14	chr12:32690600-32701000	Weak transcription	NH-A	brain
15	chr12:32690800-32697400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr12:32691000-32698600	Weak transcription	Colonic Mucosa	Colon
17	chr12:32691800-32698400	Weak transcription	Right Ventricle	heart
18	chr12:32692400-32697400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr12:32693000-32696200	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr12:32693000-32696200	Enhancers	Brain Substantia Nigra	brain
21	chr12:32693000-32696400	Enhancers	Brain Hippocampus Middle	brain
22	chr12:32693000-32729600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr12:32693200-32696200	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr12:32693200-32696400	Enhancers	Brain Angular Gyrus	brain
25	chr12:32693400-32698000	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr12:32693600-32696600	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr12:32693800-32696200	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr12:32694000-32698400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr12:32694200-32697200	Enhancers	Fetal Intestine Large	intestine
30	chr12:32694200-32698400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr12:32694400-32696200	Weak transcription	Gastric	stomach
32	chr12:32694400-32696400	Enhancers	Brain Anterior Caudate	brain
33	chr12:32694400-32696600	Enhancers	Fetal Intestine Small	intestine
34	chr12:32694600-32696200	Flanking Active TSS	Liver	Liver
35	chr12:32694600-32696200	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr12:32694600-32697400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr12:32694600-32699200	Weak transcription	Psoas Muscle	Psoas
38	chr12:32694800-32696200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr12:32694800-32696200	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr12:32694800-32696200	Enhancers	Stomach Mucosa	stomach
41	chr12:32694800-32696400	Enhancers	Fetal Lung	lung
42	chr12:32694800-32696400	Enhancers	A549	lung
43	chr12:32695000-32696200	Flanking Active TSS	Stomach Smooth Muscle	stomach
44	chr12:32695000-32696400	Enhancers	Fetal Stomach	stomach
45	chr12:32695000-32698400	Weak transcription	Fetal Muscle Leg	muscle
46	chr12:32695200-32696400	Enhancers	Adipose Nuclei	Adipose
47	chr12:32695200-32696600	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr12:32695200-32697800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr12:32695200-32698000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr12:32695200-32698000	Weak transcription	NHDF-Ad	bronchial

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