Variant report

Variant	rs10467103
Chromosome Location	chr12:49620572-49620573
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:49519485..49526890-chr12:49616239..49624332,15	K562	blood:
2	chr12:49619700..49621201-chr12:49627678..49629883,2	MCF-7	breast:
3	chr12:49608287..49610880-chr12:49615814..49620950,5	K562	blood:
4	chr12:49619902..49623805-chr12:49655877..49662372,6	K562	blood:
5	chr12:49513866..49528454-chr12:49616957..49635747,92	K562	blood:

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

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11168921	0.84[AMR][1000 genomes]
rs11168930	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12824458	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34367716	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59976042	0.90[AMR][1000 genomes]
rs68128447	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10467103	MLL2	cis	brain	BrainEAC

Chromatin state (count:35 , 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	chr12:49616800-49621000	Weak transcription	Fetal Brain Female	brain
4	chr12:49616800-49624400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr12:49616800-49625800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr12:49616800-49626000	Weak transcription	Adipose Nuclei	Adipose
7	chr12:49617000-49624000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr12:49617600-49620800	Weak transcription	Fetal Brain Male	brain
9	chr12:49617600-49625600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:49617600-49625800	Weak transcription	NHDF-Ad	bronchial
11	chr12:49617600-49626000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr12:49617800-49620800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:49617800-49621400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:49617800-49621400	Weak transcription	Brain Angular Gyrus	brain
15	chr12:49617800-49621400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr12:49617800-49621400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr12:49618000-49620600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:49618000-49621400	Weak transcription	Brain Anterior Caudate	brain
19	chr12:49618400-49621000	Weak transcription	Fetal Muscle Trunk	muscle
20	chr12:49618400-49621400	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr12:49618600-49621000	Weak transcription	Fetal Muscle Leg	muscle
22	chr12:49619200-49624000	Weak transcription	Primary B cells from cord blood	blood
23	chr12:49619800-49621000	Weak transcription	Brain Hippocampus Middle	brain
24	chr12:49619800-49621400	Weak transcription	Brain Substantia Nigra	brain
25	chr12:49619800-49624600	Weak transcription	HSMM	muscle
26	chr12:49619800-49627200	Weak transcription	Lung	lung
27	chr12:49620000-49620600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr12:49620000-49622400	Weak transcription	K562	blood
29	chr12:49620000-49623400	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr12:49620000-49624000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr12:49620000-49626000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr12:49620200-49620600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr12:49620200-49620600	Weak transcription	HSMMtube	muscle
34	chr12:49620200-49623200	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr12:49620200-49623400	Weak transcription	Primary monocytes fromperipheralblood	blood

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