Variant report

Variant	rs66850672
Chromosome Location	chr12:121619834-121619835
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121613752..121616874-chr12:121617390..121620030,3	K562	blood:
2	chr12:121617441..121619988-chr12:121622773..121626244,3	K562	blood:

Variant related genes	Relation type
ENSG00000261827	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12301635	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12304035	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12321707	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12815078	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12821688	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1718161	0.97[ASN][1000 genomes]
rs2051550	0.82[ASN][1000 genomes]
rs2051551	0.82[ASN][1000 genomes]
rs2686371	0.93[ASN][1000 genomes]
rs2857587	0.82[ASN][1000 genomes]
rs2857588	0.88[ASN][1000 genomes]
rs2857589	0.93[ASN][1000 genomes]
rs34405253	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34481602	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7137837	0.97[ASN][1000 genomes]
rs73220272	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv560454	chr12:121457073-121745742	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1054878	chr12:121519880-121761800	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv455729	chr12:121525591-121761800	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv560455	chr12:121525591-121761800	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1050519	chr12:121552964-121756420	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121571800-121623200	Weak transcription	Colonic Mucosa	Colon
2	chr12:121583000-121634600	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr12:121583800-121623600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr12:121583800-121634400	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr12:121584600-121626600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:121586200-121623600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr12:121594200-121627600	Weak transcription	Right Ventricle	heart
8	chr12:121596200-121622200	Weak transcription	Esophagus	oesophagus
9	chr12:121596200-121625600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr12:121596200-121629000	Weak transcription	Left Ventricle	heart
11	chr12:121596400-121634200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr12:121597800-121625600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr12:121602400-121634600	Weak transcription	Fetal Thymus	thymus
14	chr12:121603800-121623600	Weak transcription	Fetal Intestine Small	intestine
15	chr12:121604400-121622200	Weak transcription	Lung	lung
16	chr12:121605000-121623400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr12:121610800-121628800	Weak transcription	Right Atrium	heart
18	chr12:121612600-121630200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr12:121613800-121622000	Weak transcription	Fetal Brain Male	brain
20	chr12:121614000-121623000	Weak transcription	Primary B cells from cord blood	blood
21	chr12:121614000-121634600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr12:121614200-121620600	Strong transcription	Brain Cingulate Gyrus	brain
23	chr12:121614200-121622200	Weak transcription	Pancreas	Pancrea
24	chr12:121614200-121624000	Weak transcription	Colon Smooth Muscle	Colon
25	chr12:121614200-121628800	Weak transcription	Adipose Nuclei	Adipose
26	chr12:121614400-121620600	Strong transcription	Liver	Liver
27	chr12:121615000-121622600	Weak transcription	Gastric	stomach
28	chr12:121615200-121622000	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr12:121615400-121620000	Weak transcription	Brain Anterior Caudate	brain
30	chr12:121615400-121622000	Weak transcription	Primary T cells from cord blood	blood
31	chr12:121615400-121622000	Weak transcription	Ovary	ovary
32	chr12:121615400-121622200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr12:121615400-121622200	Weak transcription	Spleen	Spleen
34	chr12:121615600-121623200	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr12:121615800-121625400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr12:121616800-121620400	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr12:121618600-121624200	Strong transcription	Brain Hippocampus Middle	brain
38	chr12:121618800-121620000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
39	chr12:121618800-121620400	Strong transcription	Brain Inferior Temporal Lobe	brain
40	chr12:121618800-121620400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr12:121618800-121622200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr12:121619200-121627400	Weak transcription	NHLF	lung
43	chr12:121619400-121620000	Weak transcription	Stomach Smooth Muscle	stomach
44	chr12:121619400-121620400	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
45	chr12:121619400-121622000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr12:121619400-121622200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr12:121619400-121624200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr12:121619600-121620400	ZNF genes & repeats	Brain Substantia Nigra	brain
49	chr12:121619600-121623000	Weak transcription	K562	blood
50	chr12:121619800-121620200	ZNF genes & repeats	Brain Angular Gyrus	brain

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