Variant report

Variant	rs9669608
Chromosome Location	chr12:50404210-50404211
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	chr12:50398171..50399787-chr12:50403220..50405430,2	K562	blood:
2	chr12:50402113..50404435-chr12:50411266..50413680,2	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10161020	0.98[EUR][1000 genomes]
rs10161120	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10875992	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10875993	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169232	0.86[EUR][1000 genomes]
rs11169234	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169247	0.98[EUR][1000 genomes]
rs11169256	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169259	0.98[EUR][1000 genomes]
rs11169260	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11835014	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11836389	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12298110	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12311010	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12317586	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17124264	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2291612	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2292720	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs378943	0.96[EUR][1000 genomes]
rs4297542	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55634523	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55652312	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55802497	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55936104	0.98[EUR][1000 genomes]
rs55990533	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56099252	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56159935	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56232366	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56259551	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57014171	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57045365	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60000653	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60042968	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60456498	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60905953	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs611434	0.94[EUR][1000 genomes]
rs615382	0.96[EUR][1000 genomes]
rs629754	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs661823	0.83[EUR][1000 genomes]
rs694851	0.92[EUR][1000 genomes]
rs7131715	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7303531	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7306035	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7308994	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7309480	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7309940	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7309966	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73119648	0.82[EUR][1000 genomes]
rs73119651	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73119660	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73119664	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73119671	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73119681	0.98[EUR][1000 genomes]
rs73119688	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73119690	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7961683	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7972522	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7979958	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9325146	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	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	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
8	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
9	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
10	esv3392138	chr12:50394642-50645326	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50369600-50418200	Weak transcription	Colonic Mucosa	Colon
2	chr12:50372400-50404800	Weak transcription	Spleen	Spleen
3	chr12:50377600-50405600	Strong transcription	Fetal Thymus	thymus
4	chr12:50378600-50412800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:50379000-50405800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr12:50379400-50405600	Strong transcription	Hela-S3	cervix
7	chr12:50379800-50405400	Strong transcription	Dnd41	blood
8	chr12:50380200-50404800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:50380400-50410600	Weak transcription	Aorta	Aorta
10	chr12:50381800-50410400	Weak transcription	Small Intestine	intestine
11	chr12:50382000-50414800	Weak transcription	Psoas Muscle	Psoas
12	chr12:50383000-50418000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr12:50387600-50411800	Weak transcription	Lung	lung
14	chr12:50387800-50411600	Weak transcription	Esophagus	oesophagus
15	chr12:50388200-50418000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr12:50391000-50418000	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr12:50392000-50410400	Weak transcription	Adipose Nuclei	Adipose
18	chr12:50392800-50418200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr12:50393400-50411000	Weak transcription	Fetal Brain Female	brain
20	chr12:50393600-50407400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr12:50393600-50411000	Weak transcription	Liver	Liver
22	chr12:50395200-50408200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr12:50395400-50412200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr12:50397600-50412000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr12:50399200-50418200	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr12:50399400-50408200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:50399400-50412800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr12:50399600-50408800	Weak transcription	Placenta	Placenta
29	chr12:50399800-50410400	Weak transcription	Stomach Smooth Muscle	stomach
30	chr12:50399800-50410800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr12:50399800-50417400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:50400200-50408000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr12:50400400-50407400	Weak transcription	Fetal Intestine Large	intestine
34	chr12:50400400-50411800	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr12:50400400-50418200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr12:50400600-50410400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr12:50400600-50418200	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr12:50400800-50407000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr12:50400800-50407200	Weak transcription	Fetal Muscle Trunk	muscle
40	chr12:50400800-50407400	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr12:50400800-50407400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr12:50400800-50407400	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr12:50400800-50410800	Weak transcription	HUVEC	blood vessel
44	chr12:50401000-50407200	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr12:50401200-50404600	Weak transcription	NHEK	skin
46	chr12:50401200-50404800	Weak transcription	Duodenum Mucosa	Duodenum
47	chr12:50401200-50407000	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr12:50401200-50408800	Weak transcription	Primary hematopoietic stem cells	blood
49	chr12:50401200-50418200	Weak transcription	Primary B cells from cord blood	blood
50	chr12:50401400-50407200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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