Variant report

Variant	rs72855746
Chromosome Location	chr2:33406183-33406184
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	chr2:33404885..33406677-chr2:33408653..33411758,3	K562	blood:

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10048733	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10084248	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10167324	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10167399	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10170980	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10172685	0.81[AFR][1000 genomes]
rs10173416	0.89[ASN][1000 genomes]
rs10189948	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10195782	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10201015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10201397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10201620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10204479	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10205515	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10514773	0.89[ASN][1000 genomes]
rs11675702	0.89[ASN][1000 genomes]
rs11686962	0.89[ASN][1000 genomes]
rs11691887	0.89[ASN][1000 genomes]
rs11692723	0.85[ASN][1000 genomes]
rs11886226	0.89[ASN][1000 genomes]
rs11886337	1.00[ASN][1000 genomes]
rs11898777	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13392128	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13408945	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13417478	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13417974	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13431080	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17012612	0.94[ASN][1000 genomes]
rs17012615	0.94[ASN][1000 genomes]
rs17012621	0.94[ASN][1000 genomes]
rs17012646	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17012655	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17012657	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17012674	1.00[ASN][1000 genomes]
rs17012680	0.94[ASN][1000 genomes]
rs17012691	1.00[ASN][1000 genomes]
rs17012720	0.85[ASN][1000 genomes]
rs17012778	0.80[ASN][1000 genomes]
rs2004437	0.85[ASN][1000 genomes]
rs2290427	0.85[ASN][1000 genomes]
rs2290447	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4578839	0.94[ASN][1000 genomes]
rs4641915	0.94[ASN][1000 genomes]
rs55852365	0.85[ASN][1000 genomes]
rs57095191	1.00[ASN][1000 genomes]
rs57119251	1.00[ASN][1000 genomes]
rs57408328	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60523332	1.00[ASN][1000 genomes]
rs60912788	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61609498	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61754245	0.89[ASN][1000 genomes]
rs6543693	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6543694	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6543695	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6543696	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6543697	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6706122	1.00[ASN][1000 genomes]
rs6718325	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6721333	0.86[AFR][1000 genomes]
rs6722904	0.89[ASN][1000 genomes]
rs6728561	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6730109	0.94[ASN][1000 genomes]
rs6730341	0.94[ASN][1000 genomes]
rs6734291	1.00[ASN][1000 genomes]
rs6746796	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6752708	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6757287	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6757381	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6760864	0.89[ASN][1000 genomes]
rs72855723	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72855774	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72855787	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72858037	1.00[ASN][1000 genomes]
rs72858071	0.89[ASN][1000 genomes]
rs72858072	0.89[ASN][1000 genomes]
rs73927364	0.85[ASN][1000 genomes]
rs7568506	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7583435	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7603774	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7606937	1.00[ASN][1000 genomes]
rs9308932	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs964701	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998167	chr2:33074313-33541100	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv535623	chr2:33074313-33541100	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
4	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
5	esv33628	chr2:33257484-33455355	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv873790	chr2:33369582-33466483	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3387068	chr2:33404723-33413240	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33375000-33408400	Weak transcription	Fetal Muscle Leg	muscle
2	chr2:33392200-33411800	Weak transcription	Left Ventricle	heart
3	chr2:33392800-33413600	Weak transcription	HUVEC	blood vessel
4	chr2:33393200-33408400	Weak transcription	NH-A	brain
5	chr2:33394000-33420600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr2:33394400-33408200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:33394400-33408400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:33394400-33410000	Weak transcription	NHLF	lung
9	chr2:33394400-33412000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr2:33394400-33415000	Weak transcription	NHDF-Ad	bronchial
11	chr2:33394800-33408200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:33394800-33408400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr2:33398600-33408400	Weak transcription	Ovary	ovary
14	chr2:33400400-33413600	Weak transcription	Liver	Liver
15	chr2:33402000-33408400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:33403400-33408400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr2:33403800-33418800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr2:33403800-33489800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:33404200-33408800	Weak transcription	Right Ventricle	heart
20	chr2:33404200-33413600	Weak transcription	Brain Hippocampus Middle	brain
21	chr2:33405000-33406800	Enhancers	Aorta	Aorta
22	chr2:33405200-33406800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:33405600-33406600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
24	chr2:33405600-33407000	Enhancers	Fetal Heart	heart
25	chr2:33405600-33408200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:33405600-33408200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr2:33405800-33406400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr2:33406000-33406200	Enhancers	Psoas Muscle	Psoas
29	chr2:33406000-33406600	Genic enhancers	Osteobl	bone

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