Variant report

Variant	rs66924167
Chromosome Location	chr12:50205694-50205695
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50204768..50208077-chr12:50219655..50223314,3	MCF-7	breast:
2	chr12:50205269..50206882-chr12:50209160..50211384,2	K562	blood:
3	chr12:50203835..50205755-chr12:50207398..50210564,3	K562	blood:
4	chr12:50203774..50205961-chr12:50217957..50219971,2	K562	blood:
5	chr12:50202887..50205755-chr12:50205906..50208898,2	K562	blood:
6	chr12:50191925..50194204-chr12:50203904..50205859,2	K562	blood:
7	chr12:50189974..50194712-chr12:50201594..50205995,4	K562	blood:

Variant related genes	Relation type
ENSG00000167566	Chromatin interaction
ENSG00000258057	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10875970	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10875972	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11169162	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11169163	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11611168	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11615911	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2603105	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2603111	0.81[EUR][1000 genomes]
rs2603112	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2603116	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2720287	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2720301	0.81[AMR][1000 genomes]
rs2720302	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4488285	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4898530	0.81[EUR][1000 genomes]
rs59766494	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60062868	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66721590	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7313563	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs751675	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv522972	chr12:50196394-50410831	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50174400-50209600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:50179200-50213600	Weak transcription	Hela-S3	cervix
3	chr12:50187200-50214800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr12:50189200-50214600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr12:50193800-50214600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr12:50195200-50218400	Weak transcription	K562	blood
7	chr12:50195800-50214400	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr12:50197600-50220400	Weak transcription	A549	lung
9	chr12:50199400-50218400	Weak transcription	HMEC	breast
10	chr12:50199600-50205800	Weak transcription	Primary B cells from cord blood	blood
11	chr12:50199600-50214600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr12:50199600-50214800	Weak transcription	Liver	Liver
13	chr12:50199800-50206200	Enhancers	Fetal Heart	heart
14	chr12:50200000-50209800	Weak transcription	Spleen	Spleen
15	chr12:50200000-50213800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr12:50200000-50214600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:50200000-50214600	Weak transcription	Pancreas	Pancrea
18	chr12:50200000-50216800	Weak transcription	NHEK	skin
19	chr12:50200000-50219400	Weak transcription	Gastric	stomach
20	chr12:50200200-50214800	Weak transcription	Primary hematopoietic stem cells	blood
21	chr12:50200400-50214400	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr12:50200400-50215000	Weak transcription	Dnd41	blood
23	chr12:50200600-50209600	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr12:50202200-50217000	Weak transcription	HepG2	liver
25	chr12:50202200-50218400	Weak transcription	Fetal Brain Female	brain
26	chr12:50202400-50209600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr12:50202800-50209800	Weak transcription	Esophagus	oesophagus
28	chr12:50203000-50205800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:50203000-50209400	Weak transcription	Primary T cells from cord blood	blood
30	chr12:50203000-50214600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr12:50203200-50205800	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr12:50203200-50206000	Enhancers	Fetal Muscle Leg	muscle
33	chr12:50203200-50208600	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr12:50203200-50209600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr12:50203200-50211800	Weak transcription	Thymus	Thymus
36	chr12:50203400-50206600	Enhancers	Psoas Muscle	Psoas
37	chr12:50203600-50209200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr12:50203600-50218000	Weak transcription	NH-A	brain
39	chr12:50203600-50219800	Weak transcription	Aorta	Aorta
40	chr12:50203800-50205800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr12:50203800-50206000	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr12:50203800-50206600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr12:50203800-50208600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr12:50203800-50209200	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr12:50203800-50209600	Weak transcription	Stomach Smooth Muscle	stomach
46	chr12:50203800-50213600	Weak transcription	NHDF-Ad	bronchial
47	chr12:50203800-50214600	Weak transcription	Osteobl	bone
48	chr12:50203800-50215400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr12:50203800-50217800	Weak transcription	NHLF	lung
50	chr12:50203800-50218600	Weak transcription	Placenta Amnion	Placenta Amnion

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