Variant report

Variant	rs12254750
Chromosome Location	chr10:4095558-4095559
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:4087454..4089060-chr10:4095096..4097134,2	K562	blood:
2	chr10:3827062..3828607-chr10:4093523..4096614,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000067082	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12246141	0.92[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12247512	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12266996	0.93[YRI][hapmap];1.00[AMR][1000 genomes]
rs12268483	0.92[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56736206	1.00[AMR][1000 genomes]
rs57941192	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60080072	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6601799	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73589514	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051297	chr10:3908706-4277678	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
2	nsv831772	chr10:4039292-4212218	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1046213	chr10:4059937-4144692	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv540460	chr10:4059937-4144692	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4093800-4096000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr10:4093800-4096000	Weak transcription	Fetal Kidney	kidney
3	chr10:4094200-4096000	Weak transcription	Colon Smooth Muscle	Colon
4	chr10:4094200-4096200	Weak transcription	Primary B cells from peripheral blood	blood
5	chr10:4094200-4096400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr10:4094200-4103400	Weak transcription	Stomach Mucosa	stomach
7	chr10:4094400-4096400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr10:4094400-4096800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr10:4094400-4097000	Weak transcription	Lung	lung
10	chr10:4094400-4099200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr10:4094400-4099400	Weak transcription	Pancreas	Pancrea
12	chr10:4094400-4100400	Weak transcription	Osteobl	bone
13	chr10:4094400-4100600	Weak transcription	Aorta	Aorta
14	chr10:4094400-4100600	Weak transcription	Duodenum Mucosa	Duodenum
15	chr10:4094400-4100800	Weak transcription	Fetal Lung	lung
16	chr10:4094400-4102000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr10:4094400-4103600	Weak transcription	Gastric	stomach
18	chr10:4094400-4109800	Weak transcription	Right Ventricle	heart
19	chr10:4094600-4095600	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr10:4094600-4095600	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr10:4094600-4096000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr10:4094600-4099200	Weak transcription	Ovary	ovary
23	chr10:4094600-4099200	Weak transcription	Right Atrium	heart
24	chr10:4094600-4099200	Weak transcription	Spleen	Spleen
25	chr10:4094600-4099400	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr10:4094600-4100000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr10:4095200-4100600	Weak transcription	Adipose Nuclei	Adipose

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