Variant report

Variant	rs73227016
Chromosome Location	chr12:121183170-121183171
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	chr12:121180108..121181747-chr12:121181944..121183466,2	K562	blood:

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs2138250	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2393795	1.00[ASN][1000 genomes]
rs35151295	1.00[ASN][1000 genomes]
rs3850521	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3889470	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55645249	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs55647329	1.00[ASN][1000 genomes]
rs55660947	1.00[ASN][1000 genomes]
rs55874815	1.00[ASN][1000 genomes]
rs55914930	1.00[ASN][1000 genomes]
rs55941696	1.00[ASN][1000 genomes]
rs55970240	1.00[ASN][1000 genomes]
rs55980956	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56084677	1.00[ASN][1000 genomes]
rs56163702	1.00[ASN][1000 genomes]
rs56175661	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56178989	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56183824	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56189047	1.00[ASN][1000 genomes]
rs56206244	1.00[ASN][1000 genomes]
rs56231343	1.00[AFR][1000 genomes]
rs56284009	1.00[ASN][1000 genomes]
rs56366632	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56391085	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56401401	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58235352	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73213106	1.00[ASN][1000 genomes]
rs73214885	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73214888	1.00[ASN][1000 genomes]
rs73214894	1.00[ASN][1000 genomes]
rs73214896	1.00[ASN][1000 genomes]
rs73217009	1.00[ASN][1000 genomes]
rs73217017	1.00[ASN][1000 genomes]
rs73222694	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73222699	1.00[ASN][1000 genomes]
rs73222778	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73222780	1.00[ASN][1000 genomes]
rs73222784	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73222786	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73222787	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs73222794	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73222795	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73224303	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73224309	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73224313	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73224318	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73224321	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73224323	1.00[ASN][1000 genomes]
rs73224324	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73224334	1.00[ASN][1000 genomes]
rs73224335	1.00[ASN][1000 genomes]
rs73224338	1.00[ASN][1000 genomes]
rs73224340	1.00[ASN][1000 genomes]
rs73224341	1.00[ASN][1000 genomes]
rs73224342	1.00[ASN][1000 genomes]
rs73225003	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73225012	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73225023	1.00[ASN][1000 genomes]
rs73225093	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73225101	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73226258	1.00[ASN][1000 genomes]
rs73226260	1.00[ASN][1000 genomes]
rs73226262	1.00[ASN][1000 genomes]
rs73227022	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73227026	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73227027	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73227029	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73227033	1.00[ASN][1000 genomes]
rs73227036	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73227038	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73229118	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73229126	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73229149	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73229151	1.00[ASN][1000 genomes]
rs73229157	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73229160	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73229162	1.00[ASN][1000 genomes]
rs73230347	1.00[ASN][1000 genomes]
rs73230349	1.00[ASN][1000 genomes]
rs73230352	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv899557	chr12:121069201-121189116	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1041153	chr12:121171986-121208826	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121168600-121196400	Weak transcription	Fetal Brain Female	brain
2	chr12:121177200-121183200	Weak transcription	Primary T cells from cord blood	blood
3	chr12:121177600-121184600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:121177600-121186000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:121177600-121186200	Weak transcription	Left Ventricle	heart
6	chr12:121177800-121186000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr12:121177800-121186000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr12:121177800-121186200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr12:121177800-121197800	Weak transcription	Gastric	stomach
10	chr12:121178000-121183600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr12:121178000-121186000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:121178000-121194400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr12:121178200-121186200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr12:121178400-121185800	Weak transcription	Colonic Mucosa	Colon
15	chr12:121178800-121186000	Weak transcription	Right Ventricle	heart
16	chr12:121179800-121185600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:121179800-121185600	Weak transcription	Duodenum Mucosa	Duodenum
18	chr12:121179800-121197400	Weak transcription	Spleen	Spleen
19	chr12:121180200-121183600	Weak transcription	Fetal Muscle Leg	muscle
20	chr12:121180200-121185400	Weak transcription	Fetal Intestine Large	intestine
21	chr12:121180200-121197400	Weak transcription	Pancreas	Pancrea
22	chr12:121180600-121185200	Weak transcription	HepG2	liver
23	chr12:121182800-121183200	ZNF genes & repeats	Esophagus	oesophagus
24	chr12:121183000-121183200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr12:121183000-121183200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:121183000-121183200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
27	chr12:121183000-121183600	Strong transcription	Fetal Intestine Small	intestine

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