Variant report

Variant	rs73114127
Chromosome Location	chr12:50205502-50205503
allele	A/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
ENSG00000258057	Chromatin interaction
ENSG00000167566	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10875972	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11169163	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11611070	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11611168	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11612227	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2603105	0.90[EUR][1000 genomes]
rs2720301	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2720302	0.81[EUR][1000 genomes]
rs4075681	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59046026	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73114136	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73114137	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73114141	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs751675	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7953534	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7977000	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7978693	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][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:110 , 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	chr12:50199600-50205600	Enhancers	Right Atrium	heart
11	chr12:50199600-50205800	Weak transcription	Primary B cells from cord blood	blood
12	chr12:50199600-50214600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:50199600-50214800	Weak transcription	Liver	Liver
14	chr12:50199800-50206200	Enhancers	Fetal Heart	heart
15	chr12:50200000-50209800	Weak transcription	Spleen	Spleen
16	chr12:50200000-50213800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr12:50200000-50214600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:50200000-50214600	Weak transcription	Pancreas	Pancrea
19	chr12:50200000-50216800	Weak transcription	NHEK	skin
20	chr12:50200000-50219400	Weak transcription	Gastric	stomach
21	chr12:50200200-50214800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr12:50200400-50205600	Enhancers	Left Ventricle	heart
23	chr12:50200400-50214400	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr12:50200400-50215000	Weak transcription	Dnd41	blood
25	chr12:50200600-50209600	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr12:50200800-50205600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr12:50201200-50205600	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr12:50201600-50205600	Enhancers	Fetal Thymus	thymus
29	chr12:50201800-50205600	Enhancers	H1 Cell Line	embryonic stem cell
30	chr12:50202000-50205600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr12:50202000-50205600	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr12:50202200-50205600	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr12:50202200-50217000	Weak transcription	HepG2	liver
34	chr12:50202200-50218400	Weak transcription	Fetal Brain Female	brain
35	chr12:50202400-50209600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr12:50202800-50205600	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr12:50202800-50205600	Enhancers	Fetal Stomach	stomach
38	chr12:50202800-50209800	Weak transcription	Esophagus	oesophagus
39	chr12:50203000-50205800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr12:50203000-50209400	Weak transcription	Primary T cells from cord blood	blood
41	chr12:50203000-50214600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr12:50203200-50205800	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr12:50203200-50206000	Enhancers	Fetal Muscle Leg	muscle
44	chr12:50203200-50208600	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr12:50203200-50209600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr12:50203200-50211800	Weak transcription	Thymus	Thymus
47	chr12:50203400-50206600	Enhancers	Psoas Muscle	Psoas
48	chr12:50203600-50205600	Enhancers	Fetal Muscle Trunk	muscle
49	chr12:50203600-50205600	Enhancers	GM12878-XiMat	blood
50	chr12:50203600-50209200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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