Variant report

Variant	rs7314198
Chromosome Location	chr12:50799107-50799108
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50797616..50799826-chr12:50802454..50804004,2	K562	blood:
2	chr12:50794762..50796457-chr12:50796893..50799781,4	K562	blood:
3	chr12:50793078..50796292-chr12:50797637..50799893,4	K562	blood:
4	chr12:50797471..50799671-chr12:50813461..50817013,3	K562	blood:

Variant related genes	Relation type
ENSG00000161813	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10083076	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10431531	1.00[EUR][1000 genomes]
rs10431532	1.00[EUR][1000 genomes]
rs10431533	1.00[EUR][1000 genomes]
rs10732734	1.00[EUR][1000 genomes]
rs10747576	1.00[EUR][1000 genomes]
rs10747582	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10783355	1.00[EUR][1000 genomes]
rs10783360	1.00[EUR][1000 genomes]
rs10876029	1.00[EUR][1000 genomes]
rs10876040	1.00[EUR][1000 genomes]
rs11169464	1.00[EUR][1000 genomes]
rs12146806	1.00[EUR][1000 genomes]
rs12300290	1.00[EUR][1000 genomes]
rs12302812	1.00[EUR][1000 genomes]
rs12321891	1.00[EUR][1000 genomes]
rs12322925	1.00[EUR][1000 genomes]
rs12367373	1.00[EUR][1000 genomes]
rs2037453	1.00[EUR][1000 genomes]
rs2253376	1.00[EUR][1000 genomes]
rs2464125	1.00[EUR][1000 genomes]
rs2468378	1.00[EUR][1000 genomes]
rs2684904	1.00[EUR][1000 genomes]
rs2684905	1.00[EUR][1000 genomes]
rs2731437	1.00[EUR][1000 genomes]
rs2731438	1.00[EUR][1000 genomes]
rs2731445	1.00[EUR][1000 genomes]
rs2731448	1.00[EUR][1000 genomes]
rs4238103	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4259895	1.00[EUR][1000 genomes]
rs4293196	1.00[EUR][1000 genomes]
rs4334109	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4435082	1.00[EUR][1000 genomes]
rs4477515	1.00[EUR][1000 genomes]
rs4491331	1.00[EUR][1000 genomes]
rs4590959	1.00[EUR][1000 genomes]
rs4617660	1.00[EUR][1000 genomes]
rs4625558	1.00[EUR][1000 genomes]
rs4768854	1.00[EUR][1000 genomes]
rs4768896	1.00[EUR][1000 genomes]
rs4768897	1.00[EUR][1000 genomes]
rs4768898	1.00[EUR][1000 genomes]
rs4768916	1.00[EUR][1000 genomes]
rs6421169	1.00[EUR][1000 genomes]
rs6580746	1.00[EUR][1000 genomes]
rs6580749	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6580750	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6580758	1.00[EUR][1000 genomes]
rs6580759	1.00[EUR][1000 genomes]
rs7133107	1.00[EUR][1000 genomes]
rs7296277	1.00[EUR][1000 genomes]
rs7302222	1.00[EUR][1000 genomes]
rs7304951	1.00[EUR][1000 genomes]
rs7305972	1.00[EUR][1000 genomes]
rs7309410	1.00[EUR][1000 genomes]
rs7309896	1.00[EUR][1000 genomes]
rs7310522	1.00[EUR][1000 genomes]
rs7310686	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7312349	1.00[EUR][1000 genomes]
rs7313783	1.00[EUR][1000 genomes]
rs7954152	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7963866	1.00[EUR][1000 genomes]
rs7964439	1.00[EUR][1000 genomes]
rs7966009	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs939634	1.00[EUR][1000 genomes]
rs9634263	1.00[EUR][1000 genomes]
rs9804978	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv1053667	chr12:50679039-50801752	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	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
9	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
10	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:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50795400-50819400	Weak transcription	Spleen	Spleen
2	chr12:50795600-50802600	Weak transcription	Gastric	stomach
3	chr12:50796000-50809400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr12:50796000-50809600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:50796000-50812400	Weak transcription	Esophagus	oesophagus
6	chr12:50796000-50819400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr12:50796400-50802600	Weak transcription	Small Intestine	intestine
8	chr12:50796600-50809800	Weak transcription	Thymus	Thymus
9	chr12:50796800-50801800	Weak transcription	Brain Hippocampus Middle	brain
10	chr12:50796800-50808400	Weak transcription	Fetal Thymus	thymus
11	chr12:50796800-50809600	Weak transcription	Fetal Muscle Leg	muscle
12	chr12:50796800-50810000	Weak transcription	Aorta	Aorta
13	chr12:50796800-50823200	Weak transcription	HSMMtube	muscle
14	chr12:50796800-50824000	Weak transcription	Fetal Brain Female	brain
15	chr12:50796800-50832600	Weak transcription	Brain Substantia Nigra	brain
16	chr12:50797000-50800200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr12:50797000-50801400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr12:50797000-50807200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:50797000-50809600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr12:50797000-50809600	Weak transcription	Fetal Intestine Large	intestine
21	chr12:50797000-50809800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr12:50797000-50809800	Weak transcription	HSMM	muscle
23	chr12:50797000-50821800	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr12:50797000-50822200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr12:50797000-50822600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr12:50797200-50799200	Enhancers	HepG2	liver
27	chr12:50797200-50800600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr12:50797200-50801600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr12:50797200-50802200	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr12:50797200-50802800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:50797200-50806200	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr12:50797200-50808000	Weak transcription	Primary T cells from cord blood	blood
33	chr12:50797200-50808000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr12:50797200-50809400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr12:50797200-50809800	Weak transcription	Colonic Mucosa	Colon
36	chr12:50797200-50810400	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr12:50797200-50823800	Weak transcription	NH-A	brain
38	chr12:50797400-50806200	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr12:50797400-50808000	Weak transcription	Primary B cells from cord blood	blood
40	chr12:50797400-50809800	Weak transcription	NHEK	skin
41	chr12:50797600-50800000	Enhancers	K562	blood
42	chr12:50797600-50801600	Weak transcription	Osteobl	bone
43	chr12:50797600-50802200	Weak transcription	Fetal Stomach	stomach
44	chr12:50797600-50804600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:50797600-50806000	Weak transcription	Primary B cells from peripheral blood	blood
46	chr12:50797600-50806200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr12:50797600-50808200	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr12:50797600-50808200	Weak transcription	Brain Cingulate Gyrus	brain
49	chr12:50797600-50808600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr12:50797600-50808800	Weak transcription	Right Ventricle	heart

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