Variant report

Variant	rs10783310
Chromosome Location	chr12:49624308-49624309
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:49624204..49632381-chr12:49656851..49664182,36	K562	blood:
2	chr12:49519485..49526890-chr12:49616239..49624332,15	K562	blood:
3	chr12:49523171..49526001-chr12:49621210..49624929,3	MCF-7	breast:
4	chr12:49622947..49625680-chr12:49657482..49660290,3	MCF-7	breast:
5	chr12:49612799..49614334-chr12:49623991..49626335,2	K562	blood:
6	chr12:49513866..49528454-chr12:49616957..49635747,92	K562	blood:

Variant related genes	Relation type
ENSG00000258101	Chromatin interaction
ENSG00000123416	Chromatin interaction
ENSG00000200309	Chromatin interaction
ENSG00000167553	Chromatin interaction
ENSG00000258017	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10875937	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168948	1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11834543	1.00[CEU][hapmap];0.86[CHB][hapmap];0.92[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.85[YRI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11834620	0.86[ASN][1000 genomes]
rs17123623	1.00[CHB][hapmap];0.92[CHD][hapmap];0.88[ASN][1000 genomes]
rs2335453	0.86[ASN][1000 genomes]
rs7133057	0.88[ASN][1000 genomes]
rs7971455	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[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	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
2	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases
4	nsv428801	chr12:49536659-49744884	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
5	nsv518041	chr12:49618043-49645240	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10783310	MLL2	cis	hippocampus	BrainEAC
rs10783310	CACNB3	cis	temporal cortex	BrainEAC
rs10783310	WNT1	cis	cerebellum	SCAN
rs10783310	MLL2	cis	cerebellum	SCAN

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49610200-49625800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr12:49615200-49625600	Weak transcription	Placenta	Placenta
3	chr12:49616800-49624400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr12:49616800-49625800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr12:49616800-49626000	Weak transcription	Adipose Nuclei	Adipose
6	chr12:49617600-49625600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr12:49617600-49625800	Weak transcription	NHDF-Ad	bronchial
8	chr12:49617600-49626000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr12:49619800-49624600	Weak transcription	HSMM	muscle
10	chr12:49619800-49627200	Weak transcription	Lung	lung
11	chr12:49620000-49626000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr12:49621200-49625400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr12:49622000-49625600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:49622000-49625600	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr12:49622000-49625600	Weak transcription	Brain Anterior Caudate	brain
16	chr12:49622000-49625600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr12:49622000-49625600	Weak transcription	Brain Substantia Nigra	brain
18	chr12:49622000-49625800	Weak transcription	Brain Hippocampus Middle	brain
19	chr12:49622200-49625400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:49622200-49625600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr12:49622200-49625600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr12:49622600-49625600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr12:49622600-49625600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr12:49622600-49625600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr12:49622800-49625600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr12:49622800-49625600	Weak transcription	Brain Angular Gyrus	brain
27	chr12:49622800-49627000	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr12:49623000-49627800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr12:49623400-49625200	Flanking Active TSS	Fetal Brain Female	brain
30	chr12:49623400-49627000	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr12:49623600-49625800	Enhancers	Fetal Brain Male	brain
32	chr12:49623800-49625200	Flanking Active TSS	Brain Germinal Matrix	brain
33	chr12:49623800-49626200	Enhancers	K562	blood
34	chr12:49624000-49624400	Enhancers	Primary B cells from cord blood	blood
35	chr12:49624000-49624400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr12:49624000-49624600	Enhancers	Primary hematopoietic stem cells	blood
37	chr12:49624000-49624600	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr12:49624000-49625600	Enhancers	HSMMtube	muscle
39	chr12:49624000-49625800	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr12:49624000-49626000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr12:49624000-49626800	Enhancers	Fetal Muscle Leg	muscle
42	chr12:49624000-49628400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr12:49624200-49624400	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr12:49624200-49625800	Weak transcription	Fetal Lung	lung

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