Variant report

Variant	rs58444879
Chromosome Location	chr12:45615727-45615728
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:45609724..45611735-chr12:45612584..45615895,4	MCF-7	breast:
2	chr12:45608077..45611445-chr12:45614195..45617130,4	K562	blood:
3	chr12:45613975..45618238-chr12:45622905..45626980,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134297	Chromatin interaction
ENSG00000177119	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10437984	0.94[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10748412	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10785556	0.81[AMR][1000 genomes]
rs10785557	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10880755	0.84[AMR][1000 genomes]
rs10880756	0.84[AMR][1000 genomes]
rs10880760	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10880761	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10880762	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10880763	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10880764	0.89[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11182904	0.81[AMR][1000 genomes]
rs11182905	0.94[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11182908	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11182913	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11182918	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11182922	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11182936	0.89[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11182938	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11182939	0.94[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11182944	0.97[ASN][1000 genomes]
rs11182946	0.97[ASN][1000 genomes]
rs11182949	0.96[ASN][1000 genomes]
rs11610233	0.81[AMR][1000 genomes]
rs12230322	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12231753	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12320168	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12815577	0.91[ASN][1000 genomes]
rs2052602	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2052603	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2408184	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs35660715	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs3759080	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4768085	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7138983	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7304481	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7956033	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7963038	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7963057	0.94[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7964635	0.82[ASN][1000 genomes]
rs9739519	0.99[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050923	chr12:45581310-45808289	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45611000-45617600	Weak transcription	Gastric	stomach
2	chr12:45611000-45624800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:45611200-45628000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:45611400-45615800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:45611600-45629400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr12:45611800-45624800	Weak transcription	HSMM	muscle
7	chr12:45612000-45617600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr12:45612200-45617800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr12:45612200-45621200	Weak transcription	Fetal Brain Female	brain
10	chr12:45612400-45617800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:45612400-45624800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr12:45612400-45624800	Weak transcription	Osteobl	bone
13	chr12:45612400-45628000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr12:45612600-45616600	Weak transcription	K562	blood
15	chr12:45612600-45621200	Weak transcription	Brain Germinal Matrix	brain
16	chr12:45613000-45616600	Weak transcription	Fetal Muscle Leg	muscle
17	chr12:45613200-45622400	Weak transcription	Primary B cells from cord blood	blood
18	chr12:45613600-45616000	Genic enhancers	Fetal Thymus	thymus
19	chr12:45613800-45616800	Weak transcription	Psoas Muscle	Psoas
20	chr12:45613800-45621200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr12:45613800-45621200	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr12:45613800-45624200	Weak transcription	HUVEC	blood vessel
23	chr12:45613800-45625000	Weak transcription	NHLF	lung
24	chr12:45613800-45625600	Weak transcription	Right Ventricle	heart
25	chr12:45613800-45628400	Weak transcription	Lung	lung
26	chr12:45613800-45628800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr12:45613800-45635800	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr12:45613800-45638000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr12:45613800-45638200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr12:45614000-45617000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr12:45614000-45617200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr12:45614000-45621800	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr12:45614000-45621800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr12:45614000-45624600	Weak transcription	NHDF-Ad	bronchial
35	chr12:45614000-45625200	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr12:45614000-45625400	Weak transcription	Brain Substantia Nigra	brain
37	chr12:45614000-45626400	Weak transcription	Left Ventricle	heart
38	chr12:45614000-45627600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr12:45614000-45637600	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr12:45614200-45616600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr12:45614200-45617000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr12:45614200-45617800	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr12:45614200-45617800	Weak transcription	Liver	Liver
44	chr12:45614200-45619600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr12:45614200-45621000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr12:45614200-45625000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr12:45614200-45625000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr12:45614400-45617000	Weak transcription	Rectal Smooth Muscle	rectum
49	chr12:45614400-45617000	Weak transcription	Stomach Smooth Muscle	stomach
50	chr12:45614400-45617800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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