Variant report

Variant	rs11610441
Chromosome Location	chr12:123284429-123284430
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:123277425..123279847-chr12:123284020..123285711,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1026395	1.00[MEX][hapmap]
rs11060136	1.00[CHD][hapmap]
rs12580585	1.00[CHD][hapmap]
rs2061099	1.00[MEX][hapmap]
rs3964037	1.00[CHD][hapmap]
rs4759384	1.00[MEX][hapmap]
rs5021544	1.00[CHD][hapmap]
rs7138257	1.00[MEX][hapmap]
rs7310898	1.00[CHD][hapmap]
rs7485652	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899571	chr12:123215734-123363562	Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123259400-123310600	Weak transcription	HSMMtube	muscle
2	chr12:123259800-123285800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:123259800-123310600	Weak transcription	Brain Substantia Nigra	brain
4	chr12:123260000-123303600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr12:123264200-123290800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr12:123265600-123303600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:123266000-123303800	Weak transcription	Brain Hippocampus Middle	brain
8	chr12:123274600-123288800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr12:123278600-123305600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr12:123283600-123284800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr12:123283800-123284600	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr12:123283800-123284800	Enhancers	Primary hematopoietic stem cells	blood
13	chr12:123283800-123284800	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr12:123283800-123284800	Enhancers	Fetal Thymus	thymus
15	chr12:123284000-123284600	Enhancers	Primary T cells from cord blood	blood
16	chr12:123284000-123284800	Enhancers	Primary B cells from cord blood	blood
17	chr12:123284200-123284600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:123284200-123284600	Enhancers	Gastric	stomach
19	chr12:123284400-123284600	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr12:123284400-123297400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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