Variant report

Variant	rs12081121
Chromosome Location	chr1:46025777-46025778
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:46014232..46017206-chr1:46025290..46030299,5	K562	blood:
2	chr1:45982318..45989250-chr1:46023024..46029715,13	K562	blood:
3	chr1:46015304..46018018-chr1:46025147..46026721,2	MCF-7	breast:
4	chr1:45976925..45978891-chr1:46025092..46026653,2	K562	blood:
5	chr1:46016379..46019055-chr1:46025456..46027491,2	K562	blood:

Variant related genes	Relation type
ENSG00000117450	Chromatin interaction
ENSG00000117448	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs11211127	1.00[AMR][1000 genomes]
rs11211144	1.00[AMR][1000 genomes]
rs11211148	1.00[AMR][1000 genomes]
rs11211153	1.00[AMR][1000 genomes]
rs11211154	1.00[AMR][1000 genomes]
rs11211155	1.00[AMR][1000 genomes]
rs11211156	1.00[AMR][1000 genomes]
rs11211167	1.00[AMR][1000 genomes]
rs12057167	1.00[AMR][1000 genomes]
rs12060056	1.00[AMR][1000 genomes]
rs12061890	1.00[AMR][1000 genomes]
rs12062361	1.00[AMR][1000 genomes]
rs12063380	1.00[AMR][1000 genomes]
rs12064908	1.00[AMR][1000 genomes]
rs12067882	1.00[AMR][1000 genomes]
rs12070146	1.00[AMR][1000 genomes]
rs12070177	1.00[AMR][1000 genomes]
rs12073045	1.00[AMR][1000 genomes]
rs12073047	1.00[AMR][1000 genomes]
rs12073132	1.00[AMR][1000 genomes]
rs12077112	1.00[AMR][1000 genomes]
rs12080482	1.00[AMR][1000 genomes]
rs12082672	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12085372	1.00[AMR][1000 genomes]
rs12086880	1.00[AMR][1000 genomes]
rs12088810	1.00[AMR][1000 genomes]
rs12091335	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12091360	1.00[AMR][1000 genomes]
rs12093444	1.00[AMR][1000 genomes]
rs12094011	1.00[AMR][1000 genomes]
rs12097914	1.00[AMR][1000 genomes]
rs16832540	1.00[AMR][1000 genomes]
rs16832550	1.00[AMR][1000 genomes]
rs16832553	1.00[AMR][1000 genomes]
rs16832557	1.00[AMR][1000 genomes]
rs1691225	1.00[AMR][1000 genomes]
rs1691226	1.00[AMR][1000 genomes]
rs1691227	1.00[AMR][1000 genomes]
rs1762087	1.00[AMR][1000 genomes]
rs2782489	1.00[AMR][1000 genomes]
rs28532613	1.00[AMR][1000 genomes]
rs28548585	1.00[AMR][1000 genomes]
rs28576912	1.00[AMR][1000 genomes]
rs28607905	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35067820	1.00[AMR][1000 genomes]
rs35808563	1.00[AMR][1000 genomes]
rs486346	1.00[AMR][1000 genomes]
rs505175	1.00[AMR][1000 genomes]
rs506094	1.00[AMR][1000 genomes]
rs525706	1.00[AMR][1000 genomes]
rs622296	1.00[AMR][1000 genomes]
rs635446	1.00[AMR][1000 genomes]
rs665014	1.00[AMR][1000 genomes]
rs668289	1.00[AMR][1000 genomes]
rs669417	1.00[AMR][1000 genomes]
rs680267	1.00[AMR][1000 genomes]
rs7550744	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv530016	chr1:45868543-46069020	Flanking Active TSS Genic enhancers Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
3	nsv829726	chr1:45897581-46103186	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
4	nsv529631	chr1:45905936-46335246	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	207 gene(s)	inside rSNPs	diseases
5	nsv932680	chr1:45935520-46686477	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
6	nsv868828	chr1:45953923-46686477	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
7	nsv871928	chr1:46024701-46609736	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46017000-46025800	Weak transcription	Spleen	Spleen
2	chr1:46017400-46027000	Weak transcription	Aorta	Aorta
3	chr1:46017400-46027400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:46017800-46026800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr1:46017800-46026800	Weak transcription	Brain Substantia Nigra	brain
6	chr1:46017800-46026800	Weak transcription	HSMMtube	muscle
7	chr1:46017800-46027200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr1:46017800-46027400	Weak transcription	Brain Hippocampus Middle	brain
9	chr1:46017800-46027400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr1:46017800-46027400	Weak transcription	Gastric	stomach
11	chr1:46017800-46032200	Weak transcription	Brain Anterior Caudate	brain
12	chr1:46017800-46038800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:46018000-46027400	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr1:46018000-46032200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr1:46018000-46038600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr1:46018200-46037400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:46018400-46025800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:46018400-46026600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr1:46018400-46026600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr1:46018400-46026800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:46018400-46026800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr1:46018400-46027200	Weak transcription	Fetal Lung	lung
23	chr1:46018400-46027400	Weak transcription	Colon Smooth Muscle	Colon
24	chr1:46018400-46027400	Weak transcription	HUVEC	blood vessel
25	chr1:46018400-46029600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr1:46018400-46029800	Weak transcription	NHDF-Ad	bronchial
27	chr1:46018400-46032000	Weak transcription	Fetal Kidney	kidney
28	chr1:46018400-46032600	Weak transcription	Fetal Brain Male	brain
29	chr1:46018400-46036400	Strong transcription	Fetal Stomach	stomach
30	chr1:46018400-46036800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:46018400-46036800	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr1:46018400-46036800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr1:46018400-46037000	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr1:46018600-46026800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:46018600-46026800	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr1:46018600-46027000	Weak transcription	Esophagus	oesophagus
37	chr1:46018600-46032000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr1:46018600-46034200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr1:46018600-46036800	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr1:46018600-46037600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr1:46018600-46038200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr1:46019200-46032000	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr1:46020200-46026000	Weak transcription	Lung	lung
44	chr1:46020600-46032200	Weak transcription	Brain Angular Gyrus	brain
45	chr1:46021400-46026800	Weak transcription	Stomach Smooth Muscle	stomach
46	chr1:46021600-46027400	Weak transcription	Primary hematopoietic stem cells	blood
47	chr1:46021600-46029600	Weak transcription	HSMM	muscle
48	chr1:46021800-46026800	Weak transcription	Ovary	ovary
49	chr1:46021800-46027000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr1:46021800-46027000	Weak transcription	Osteobl	bone

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