Variant report

Variant	rs57310784
Chromosome Location	chr12:123427973-123427974
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:123426745..123429433-chr12:123432536..123436941,4	K562	blood:
2	chr12:123427499..123429140-chr12:123435163..123436941,2	K562	blood:

Variant related genes	Relation type
ENSG00000150967	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10219462	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10846468	0.87[ASN][1000 genomes]
rs10846469	0.87[ASN][1000 genomes]
rs10846473	0.87[ASN][1000 genomes]
rs10848148	1.00[ASN][1000 genomes]
rs10848363	0.87[ASN][1000 genomes]
rs10848365	0.87[ASN][1000 genomes]
rs10848429	0.87[ASN][1000 genomes]
rs11057172	0.87[ASN][1000 genomes]
rs11060888	1.00[ASN][1000 genomes]
rs11060932	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11060997	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11060999	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11061166	0.87[ASN][1000 genomes]
rs11061601	0.87[ASN][1000 genomes]
rs11061611	0.87[ASN][1000 genomes]
rs11061616	0.87[ASN][1000 genomes]
rs12229119	1.00[ASN][1000 genomes]
rs12229884	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12298355	0.87[ASN][1000 genomes]
rs12306711	0.87[ASN][1000 genomes]
rs12311043	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12311134	0.87[ASN][1000 genomes]
rs12318594	0.87[ASN][1000 genomes]
rs12366787	0.87[ASN][1000 genomes]
rs34010146	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs55646110	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs55813219	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs55939945	0.87[AMR][1000 genomes]
rs55951195	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs56150478	0.81[AFR][1000 genomes]
rs56288804	0.85[AFR][1000 genomes]
rs57110420	0.87[AMR][1000 genomes]
rs57258703	0.87[AMR][1000 genomes]
rs57863319	0.83[AFR][1000 genomes]
rs58025094	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs58462666	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs59002329	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs59081274	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs59211448	0.83[AFR][1000 genomes]
rs59379557	0.85[AFR][1000 genomes]
rs59526938	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs60739634	0.87[AMR][1000 genomes]
rs60888713	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs60987910	0.85[AFR][1000 genomes]
rs61061591	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs61546241	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs61592192	0.85[AFR][1000 genomes]
rs61677786	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7295258	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73408818	0.87[AMR][1000 genomes]
rs73408820	0.87[AMR][1000 genomes]
rs73408832	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73408835	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73408859	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73408862	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73408863	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73408890	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73408892	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73408893	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73408894	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73408899	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73411006	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73411009	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73411011	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73411014	0.87[AMR][1000 genomes]
rs73411015	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73411018	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73411027	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73411033	0.85[AFR][1000 genomes]
rs73411041	0.85[AFR][1000 genomes]
rs73411043	0.85[AFR][1000 genomes]
rs7971535	0.87[AMR][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	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv899572	chr12:123292503-123477311	Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv899573	chr12:123312051-123528405	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv517200	chr12:123312051-123654498	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv899576	chr12:123335527-123528405	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv832532	chr12:123395927-123573137	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv832533	chr12:123395927-123589290	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv427924	chr12:123412172-123722059	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
9	nsv976725	chr12:123412328-123429898	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv560491	chr12:123425575-123444422	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
11	nsv455732	chr12:123427573-123574838	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
12	nsv560492	chr12:123427573-123574838	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123402600-123429200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:123402800-123429200	Weak transcription	Gastric	stomach
3	chr12:123402800-123430800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr12:123403000-123428800	Weak transcription	Lung	lung
5	chr12:123403000-123444200	Weak transcription	Aorta	Aorta
6	chr12:123405200-123428600	Weak transcription	NHEK	skin
7	chr12:123411800-123428800	Weak transcription	Fetal Brain Male	brain
8	chr12:123412800-123431800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr12:123412800-123449200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:123413400-123449600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr12:123413600-123431400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:123413600-123450000	Weak transcription	Primary T cells from cord blood	blood
13	chr12:123414000-123432400	Weak transcription	Fetal Kidney	kidney
14	chr12:123415600-123429000	Weak transcription	Pancreas	Pancrea
15	chr12:123415800-123431600	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr12:123417400-123441800	Weak transcription	Ovary	ovary
17	chr12:123417600-123446200	Weak transcription	Fetal Lung	lung
18	chr12:123420600-123428000	Weak transcription	K562	blood
19	chr12:123422000-123429200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr12:123422600-123428800	Weak transcription	Osteobl	bone
21	chr12:123423000-123428000	Weak transcription	Psoas Muscle	Psoas
22	chr12:123424200-123431000	Weak transcription	Fetal Intestine Large	intestine
23	chr12:123425200-123430000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr12:123425400-123428200	Weak transcription	Placenta	Placenta
25	chr12:123425600-123428000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr12:123425600-123428000	Weak transcription	Colonic Mucosa	Colon
27	chr12:123425600-123428200	Weak transcription	Brain Germinal Matrix	brain
28	chr12:123425600-123428200	Enhancers	Duodenum Mucosa	Duodenum
29	chr12:123425600-123429000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr12:123425600-123432400	Enhancers	Muscle Satellite Cultured Cells	--
31	chr12:123425600-123432600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr12:123425800-123428000	Weak transcription	Brain Angular Gyrus	brain
33	chr12:123425800-123428800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr12:123425800-123428800	Weak transcription	Esophagus	oesophagus
35	chr12:123425800-123429200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr12:123425800-123431200	Enhancers	Hela-S3	cervix
37	chr12:123426200-123428200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr12:123426200-123429000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr12:123426400-123428000	Enhancers	Primary T cells fromperipheralblood	blood
40	chr12:123426400-123428000	Strong transcription	Fetal Stomach	stomach
41	chr12:123426400-123429000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr12:123426600-123428000	Enhancers	HepG2	liver
43	chr12:123426600-123428000	Enhancers	NHLF	lung
44	chr12:123426600-123432200	Enhancers	Right Atrium	heart
45	chr12:123426800-123428000	Enhancers	Fetal Intestine Small	intestine
46	chr12:123426800-123428400	Enhancers	HSMM	muscle
47	chr12:123426800-123428800	Enhancers	HMEC	breast
48	chr12:123426800-123429000	Weak transcription	Left Ventricle	heart
49	chr12:123427000-123428000	Enhancers	Primary B cells from peripheral blood	blood
50	chr12:123427200-123428000	Enhancers	Adipose Nuclei	Adipose

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