Variant report

Variant	rs839362
Chromosome Location	chr12:123277170-123277171
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	chr12:123277035..123279941-chr12:123319015..123320970,3	MCF-7	breast:
2	chr12:123276806..123278323-chr12:123371531..123373689,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000130787	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10847742	0.80[EUR][1000 genomes]
rs10847749	0.80[EUR][1000 genomes]
rs10847751	0.80[EUR][1000 genomes]
rs11059729	0.87[ASN][1000 genomes]
rs1260121	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1696355	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1798563	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1975761	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2649895	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2649896	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2649900	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2649903	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2649914	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2656812	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3844369	0.80[EUR][1000 genomes]
rs3852535	0.80[EUR][1000 genomes]
rs4038080	0.80[EUR][1000 genomes]
rs4038081	0.80[EUR][1000 genomes]
rs4307760	0.80[EUR][1000 genomes]
rs548349	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6489241	0.80[EUR][1000 genomes]
rs651683	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs839354	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs839355	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs839356	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs839357	0.87[ASN][1000 genomes]
rs967281	0.80[EUR][1000 genomes]

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:25 , 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	chr12:123260000-123278400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr12:123260000-123278400	Weak transcription	Brain Angular Gyrus	brain
6	chr12:123260000-123278400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr12:123260000-123278400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr12:123260000-123303600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr12:123260200-123278000	Weak transcription	Fetal Thymus	thymus
10	chr12:123260200-123284000	Weak transcription	Primary B cells from cord blood	blood
11	chr12:123260200-123284000	Weak transcription	Primary T cells from cord blood	blood
12	chr12:123264200-123278400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:123264200-123290800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr12:123264600-123278400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:123265600-123303600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr12:123266000-123303800	Weak transcription	Brain Hippocampus Middle	brain
17	chr12:123273800-123280200	Weak transcription	Stomach Mucosa	stomach
18	chr12:123274400-123278400	Weak transcription	K562	blood
19	chr12:123274600-123288800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr12:123275600-123277600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr12:123275600-123278400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr12:123275600-123278400	Weak transcription	NHDF-Ad	bronchial
23	chr12:123276200-123278200	Weak transcription	Colon Smooth Muscle	Colon
24	chr12:123276600-123278400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr12:123276600-123280400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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