Variant report

Variant	rs55634523
Chromosome Location	chr12:50376260-50376261
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:50376082..50378233-chr12:50414724..50416440,2	K562	blood:
2	chr12:50372256..50375047-chr12:50375055..50377521,2	K562	blood:

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10161020	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10161120	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10875992	0.96[EUR][1000 genomes]
rs10875993	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169232	0.90[EUR][1000 genomes]
rs11169234	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169247	0.94[EUR][1000 genomes]
rs11169256	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169259	0.94[EUR][1000 genomes]
rs11169260	0.94[EUR][1000 genomes]
rs11835014	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11836389	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12298110	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12311010	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12317586	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17124264	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2291612	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2292720	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs296747	0.80[EUR][1000 genomes]
rs378943	0.92[EUR][1000 genomes]
rs4297542	0.96[EUR][1000 genomes]
rs55652312	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55802497	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55936104	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55990533	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56099252	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56159935	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56232366	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56259551	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57014171	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57045365	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60000653	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60042968	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60456498	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60905953	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs611434	0.90[EUR][1000 genomes]
rs615382	0.92[EUR][1000 genomes]
rs629754	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs694851	0.89[EUR][1000 genomes]
rs7131715	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7303531	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7306035	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7308994	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7309480	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7309940	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7309966	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73119648	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs73119651	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73119660	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73119664	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73119671	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73119681	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73119688	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73119690	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7961683	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7972522	0.96[EUR][1000 genomes]
rs7979958	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9325146	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9669608	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
3	nsv522972	chr12:50196394-50410831	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
5	nsv832407	chr12:50243268-50412236	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv558835	chr12:50275137-50433234	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	nsv899072	chr12:50326176-50379667	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	esv1827130	chr12:50349765-50379667	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv469374	chr12:50349765-50467769	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
10	nsv469375	chr12:50349765-50467769	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
11	nsv558837	chr12:50349765-50467769	Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50362600-50385800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:50366600-50377400	Weak transcription	NHEK	skin
3	chr12:50367000-50378000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:50367400-50401200	Weak transcription	Gastric	stomach
5	chr12:50369200-50377400	Weak transcription	Right Ventricle	heart
6	chr12:50369200-50377600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr12:50369200-50381600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr12:50369400-50377600	Weak transcription	Fetal Thymus	thymus
9	chr12:50369600-50377400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:50369600-50377400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:50369600-50379200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr12:50369600-50418200	Weak transcription	Colonic Mucosa	Colon
13	chr12:50370000-50377800	Weak transcription	Thymus	Thymus
14	chr12:50372200-50378200	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr12:50372400-50404800	Weak transcription	Spleen	Spleen
16	chr12:50373000-50377600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:50373000-50377800	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr12:50373200-50377400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr12:50373400-50377400	Weak transcription	Fetal Muscle Trunk	muscle
20	chr12:50373400-50377600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr12:50373400-50377600	Enhancers	Brain Anterior Caudate	brain
22	chr12:50373400-50377800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr12:50373400-50378400	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr12:50373600-50377200	Weak transcription	Fetal Muscle Leg	muscle
25	chr12:50373600-50378200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr12:50373600-50381600	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr12:50373800-50378200	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr12:50373800-50378600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr12:50373800-50379600	Weak transcription	GM12878-XiMat	blood
30	chr12:50374000-50376600	Weak transcription	Fetal Heart	heart
31	chr12:50374200-50379000	Enhancers	K562	blood
32	chr12:50374600-50377400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr12:50374600-50378200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr12:50374600-50379000	Enhancers	Fetal Kidney	kidney
35	chr12:50374800-50376800	Enhancers	A549	lung
36	chr12:50374800-50381600	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr12:50375000-50376600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr12:50375000-50377400	Weak transcription	HSMMtube	muscle
39	chr12:50375000-50377600	Weak transcription	Pancreas	Pancrea
40	chr12:50375000-50378000	Weak transcription	Fetal Brain Female	brain
41	chr12:50375000-50379400	Weak transcription	Hela-S3	cervix
42	chr12:50375200-50376600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr12:50375200-50376600	Weak transcription	Brain Angular Gyrus	brain
44	chr12:50375200-50376600	Weak transcription	Brain Hippocampus Middle	brain
45	chr12:50375200-50376600	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr12:50375200-50377000	Weak transcription	Fetal Brain Male	brain
47	chr12:50375200-50377400	Weak transcription	Fetal Intestine Small	intestine
48	chr12:50375200-50377600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr12:50375200-50377600	Enhancers	Colon Smooth Muscle	Colon
50	chr12:50375200-50378400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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