Variant report

Variant	rs17123879
Chromosome Location	chr12:50074039-50074040
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50042864..50045064-chr12:50072583..50074493,2	K562	blood:
2	chr12:50073624..50075414-chr12:50077463..50080015,2	K562	blood:
3	chr12:50067511..50069369-chr12:50073170..50075270,2	K562	blood:
4	chr12:50073227..50075348-chr12:50080508..50083212,2	MCF-7	breast:
5	chr12:50073941..50076090-chr12:50077061..50078707,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10128824	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11169110	1.00[ASW][hapmap];1.00[LWK][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11169114	1.00[ASW][hapmap];1.00[LWK][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11169115	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11169120	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11169123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12297814	1.00[ASW][hapmap];0.93[LWK][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12299477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12299666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12299743	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12299751	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12300919	0.83[AFR][1000 genomes]
rs12300962	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12306951	1.00[AMR][1000 genomes]
rs12310580	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12312112	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12313657	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12313681	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12314036	1.00[ASW][hapmap];1.00[LWK][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12315508	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12317162	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12319527	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12320895	1.00[ASW][hapmap];1.00[LWK][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1317263	1.00[AMR][1000 genomes]
rs17119738	0.88[MKK][hapmap];1.00[AMR][1000 genomes]
rs17123787	1.00[AMR][1000 genomes]
rs17123827	1.00[AMR][1000 genomes]
rs17123924	1.00[ASW][hapmap];1.00[LWK][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9804867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9805090	0.96[AFR][1000 genomes];1.00[AMR][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	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50067800-50075200	Weak transcription	Primary B cells from cord blood	blood
2	chr12:50068200-50077400	Weak transcription	Spleen	Spleen
3	chr12:50068200-50077800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr12:50068600-50077600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr12:50068600-50083600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr12:50069000-50076800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:50069200-50077600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:50069200-50078400	Weak transcription	NHLF	lung
9	chr12:50069400-50076600	Weak transcription	Fetal Thymus	thymus
10	chr12:50069400-50076800	Weak transcription	Right Atrium	heart
11	chr12:50069400-50077000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr12:50069400-50077600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr12:50069400-50077600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr12:50069400-50077800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:50069400-50078000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr12:50069600-50074600	Weak transcription	Primary B cells from peripheral blood	blood
17	chr12:50069600-50077000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr12:50069600-50078000	Weak transcription	Brain Angular Gyrus	brain
19	chr12:50069600-50078400	Weak transcription	HSMM	muscle
20	chr12:50069600-50078600	Weak transcription	Small Intestine	intestine
21	chr12:50069800-50076600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr12:50069800-50076800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr12:50070000-50083400	Weak transcription	Brain Substantia Nigra	brain
24	chr12:50070200-50076800	Weak transcription	HSMMtube	muscle
25	chr12:50070200-50077600	Weak transcription	Brain Hippocampus Middle	brain
26	chr12:50070200-50077800	Weak transcription	Brain Anterior Caudate	brain
27	chr12:50070200-50077800	Weak transcription	Fetal Stomach	stomach
28	chr12:50070600-50074200	Weak transcription	Fetal Lung	lung
29	chr12:50070800-50076800	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr12:50071200-50076800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr12:50071200-50077400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr12:50071400-50074600	Weak transcription	GM12878-XiMat	blood
33	chr12:50071600-50076600	Weak transcription	Primary T cells from cord blood	blood
34	chr12:50071600-50076600	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr12:50072200-50074200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr12:50072400-50075200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:50072800-50075000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr12:50073200-50077400	Weak transcription	Osteobl	bone
39	chr12:50073200-50077800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr12:50073400-50074200	Enhancers	Lung	lung
41	chr12:50073400-50074600	Enhancers	Ovary	ovary
42	chr12:50073600-50074200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr12:50073800-50074400	Enhancers	Right Ventricle	heart
44	chr12:50073800-50076800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr12:50074000-50074400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr12:50074000-50074600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr12:50074000-50074800	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr12:50074000-50074800	Enhancers	NHDF-Ad	bronchial
49	chr12:50074000-50075400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr12:50074000-50080600	Weak transcription	Fetal Muscle Trunk	muscle

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