Variant report

Variant	rs28531936
Chromosome Location	chr14:45680043-45680044
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:45679392-45680373	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:45678908..45681403-chr14:45684566..45687731,3	K562	blood:
2	chr14:45679707..45681443-chr14:45682954..45685431,2	MCF-7	breast:

Variant related genes	Relation type
MIS18BP1	TF binding region

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10129236	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10137415	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10142759	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10143508	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10143794	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10149578	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10151937	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs10220594	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11157433	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11845507	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12433547	0.88[EUR][1000 genomes]
rs12433565	0.86[EUR][1000 genomes]
rs1252957	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1252959	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1252960	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1252963	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1252966	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1266209	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1268576	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1367580	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17115860	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17115912	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17636302	0.88[EUR][1000 genomes]
rs2415883	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2750119	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34101857	0.88[EUR][1000 genomes]
rs3825624	0.86[EUR][1000 genomes]
rs3916169	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4900665	0.86[EUR][1000 genomes]
rs4900666	0.86[EUR][1000 genomes]
rs4900667	0.86[EUR][1000 genomes]
rs4906566	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4906568	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57607457	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58790242	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6572296	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7141145	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7147246	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7148613	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7160373	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73350248	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73350255	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8010456	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8020533	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs911040	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs911041	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901841	chr14:45198196-45719643	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv1795667	chr14:45361680-45721052	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv1803131	chr14:45441932-45726848	Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv933364	chr14:45467086-45705844	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv901842	chr14:45506857-45713358	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv901843	chr14:45506857-45833490	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
7	nsv832785	chr14:45520670-45710741	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv530814	chr14:45604432-46198418	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
9	nsv901844	chr14:45606287-46063731	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
10	nsv1044445	chr14:45606779-45807171	Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
11	nsv901845	chr14:45619217-45772910	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
12	nsv1045297	chr14:45631260-45755992	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 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	chr14:45608000-45683000	Weak transcription	K562	blood
2	chr14:45629800-45680800	Weak transcription	HepG2	liver
3	chr14:45630800-45704400	Weak transcription	Fetal Brain Male	brain
4	chr14:45631800-45711400	Weak transcription	Brain Hippocampus Middle	brain
5	chr14:45632800-45707000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr14:45633800-45721200	Weak transcription	Aorta	Aorta
7	chr14:45636600-45682800	Weak transcription	Fetal Lung	lung
8	chr14:45643400-45681000	Weak transcription	Pancreas	Pancrea
9	chr14:45643800-45692800	Weak transcription	Fetal Kidney	kidney
10	chr14:45654200-45680400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr14:45655600-45719200	Weak transcription	Stomach Smooth Muscle	stomach
12	chr14:45655800-45680800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr14:45656600-45691800	Weak transcription	Small Intestine	intestine
14	chr14:45657000-45681000	Weak transcription	Brain Angular Gyrus	brain
15	chr14:45657000-45681000	Weak transcription	Esophagus	oesophagus
16	chr14:45657000-45681200	Weak transcription	Brain Germinal Matrix	brain
17	chr14:45657000-45681400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:45657200-45683400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr14:45658000-45680800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr14:45658200-45680800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr14:45658600-45680800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr14:45658600-45681200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr14:45660600-45707000	Weak transcription	Gastric	stomach
24	chr14:45660800-45680800	Weak transcription	Ovary	ovary
25	chr14:45660800-45703400	Weak transcription	Psoas Muscle	Psoas
26	chr14:45661400-45680600	Weak transcription	Spleen	Spleen
27	chr14:45662800-45711400	Weak transcription	Brain Anterior Caudate	brain
28	chr14:45663800-45680600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr14:45664000-45696000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr14:45666600-45680800	Weak transcription	Left Ventricle	heart
31	chr14:45668000-45681000	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr14:45668600-45681000	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr14:45668600-45683800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr14:45668800-45683400	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr14:45669000-45686800	Weak transcription	HSMMtube	muscle
36	chr14:45669200-45680800	Weak transcription	NHEK	skin
37	chr14:45669600-45681400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr14:45669600-45712000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr14:45669800-45699400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr14:45670000-45711400	Weak transcription	Brain Substantia Nigra	brain
41	chr14:45670000-45711600	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr14:45671000-45684600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr14:45671000-45698800	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr14:45671200-45680800	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr14:45671400-45683400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr14:45672800-45687800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr14:45672800-45697800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr14:45673200-45706400	Strong transcription	Fetal Thymus	thymus
49	chr14:45673600-45681000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr14:45674200-45687200	Strong transcription	Adipose Nuclei	Adipose

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