Variant report

Variant	rs11169252
Chromosome Location	chr12:50406811-50406812
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	chr12:50405905..50407944-chr12:50410474..50412125,2	K562	blood:
2	chr12:50406498..50409070-chr12:50412781..50414951,2	K562	blood:

Variant related genes	Relation type
ENSG00000161800	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10219607	0.80[ASN][1000 genomes]
rs11169238	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11503902	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12297095	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12313336	0.93[ASN][1000 genomes]
rs12313701	0.93[ASN][1000 genomes]
rs12322177	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2292721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs296748	0.80[ASN][1000 genomes]
rs296749	0.86[ASN][1000 genomes]
rs58424082	0.93[ASN][1000 genomes]
rs61147017	0.93[ASN][1000 genomes]
rs73297484	0.93[ASN][1000 genomes]
rs73297487	0.93[ASN][1000 genomes]
rs73297491	0.93[ASN][1000 genomes]
rs7972448	0.93[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:98 , 50 per page) page: 1 2

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

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