Variant report

Variant	rs7308184
Chromosome Location	chr12:50810205-50810206
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50803668..50806425-chr12:50809332..50811405,2	K562	blood:
2	chr12:50793235..50796567-chr12:50807744..50811456,6	K562	blood:
3	chr12:50720749..50723312-chr12:50808337..50810670,2	MCF-7	breast:
4	chr12:50794108..50796567-chr12:50808356..50811014,3	K562	blood:

Variant related genes	Relation type
ENSG00000161813	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10467057	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10467107	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10783361	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10876033	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10876035	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11169423	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17124559	0.86[ASN][1000 genomes]
rs17124706	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4238105	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4321029	0.82[EUR][1000 genomes]
rs4343103	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4424740	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768976	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57594106	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58723865	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7138887	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7304630	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73305121	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73305168	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7489251	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7959284	0.97[EUR][1000 genomes]
rs7964643	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7967393	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7970694	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7973910	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899075	chr12:50594947-50835060	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
2	esv2761738	chr12:50627292-50836427	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
3	nsv1054480	chr12:50691039-50859665	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv1041563	chr12:50705715-50861699	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv1049665	chr12:50705715-50871542	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv899076	chr12:50770291-50869589	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
7	nsv469376	chr12:50792846-50856613	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
8	nsv558841	chr12:50792846-50856613	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
9	nsv470291	chr12:50792846-50858820	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50795400-50819400	Weak transcription	Spleen	Spleen
2	chr12:50796000-50812400	Weak transcription	Esophagus	oesophagus
3	chr12:50796000-50819400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:50796800-50823200	Weak transcription	HSMMtube	muscle
5	chr12:50796800-50824000	Weak transcription	Fetal Brain Female	brain
6	chr12:50796800-50832600	Weak transcription	Brain Substantia Nigra	brain
7	chr12:50797000-50821800	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr12:50797000-50822200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr12:50797000-50822600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr12:50797200-50810400	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr12:50797200-50823800	Weak transcription	NH-A	brain
12	chr12:50797600-50811200	Weak transcription	Fetal Heart	heart
13	chr12:50797600-50812000	Weak transcription	HMEC	breast
14	chr12:50797600-50815600	Weak transcription	Brain Germinal Matrix	brain
15	chr12:50797600-50822800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr12:50797600-50826200	Weak transcription	NHDF-Ad	bronchial
17	chr12:50797600-50826800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr12:50797600-50829600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr12:50798200-50819400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:50798400-50812000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr12:50798400-50822400	Weak transcription	Colon Smooth Muscle	Colon
22	chr12:50798400-50824000	Weak transcription	Fetal Kidney	kidney
23	chr12:50799000-50812000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr12:50799000-50818800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr12:50799600-50812000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr12:50802400-50812000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr12:50803200-50823200	Weak transcription	Small Intestine	intestine
28	chr12:50805000-50812800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr12:50805600-50814600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr12:50805800-50818600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr12:50806400-50813000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr12:50806400-50819200	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr12:50807200-50819400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:50807200-50824000	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr12:50807400-50810600	Strong transcription	HepG2	liver
36	chr12:50807400-50822600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr12:50808000-50810400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr12:50808000-50813600	Strong transcription	Fetal Intestine Small	intestine
39	chr12:50808200-50810400	Strong transcription	Dnd41	blood
40	chr12:50808200-50824000	Weak transcription	Brain Angular Gyrus	brain
41	chr12:50808400-50812200	Weak transcription	Psoas Muscle	Psoas
42	chr12:50808400-50812400	Strong transcription	Fetal Thymus	thymus
43	chr12:50808400-50818800	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr12:50808600-50819000	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr12:50808800-50810800	Strong transcription	GM12878-XiMat	blood
46	chr12:50809000-50810600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr12:50809200-50810600	Strong transcription	Primary T cells from cord blood	blood
48	chr12:50809200-50810800	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr12:50809400-50810400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr12:50809400-50810800	Strong transcription	A549	lung

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