Variant report

Variant	rs72898525
Chromosome Location	chr2:184062612-184062613
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	chr2:184060293..184062928-chr2:184065628..184067485,2	K562	blood:

Extended variants
information (count: 116 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs1473614	1.00[EUR][1000 genomes]
rs1473615	1.00[EUR][1000 genomes]
rs1473616	1.00[EUR][1000 genomes]
rs2675053	0.92[EUR][1000 genomes]
rs2675054	1.00[EUR][1000 genomes]
rs2705715	1.00[EUR][1000 genomes]
rs2705718	1.00[EUR][1000 genomes]
rs2705719	1.00[EUR][1000 genomes]
rs2705720	1.00[EUR][1000 genomes]
rs2705721	1.00[EUR][1000 genomes]
rs55657876	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55678810	0.86[AMR][1000 genomes]
rs55696219	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55707150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55764044	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55957340	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56182353	0.88[EUR][1000 genomes]
rs6712479	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6722457	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6743323	0.88[EUR][1000 genomes]
rs6750392	0.88[EUR][1000 genomes]
rs72888431	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72888449	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72888452	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72888461	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72888464	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72888472	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72888474	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72888478	0.86[EUR][1000 genomes]
rs72888481	0.86[EUR][1000 genomes]
rs72888488	0.86[EUR][1000 genomes]
rs72888489	0.86[EUR][1000 genomes]
rs72890307	0.88[EUR][1000 genomes]
rs72890345	0.97[EUR][1000 genomes]
rs72890349	0.90[EUR][1000 genomes]
rs72890352	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72890353	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72890370	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72890384	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72890392	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72890398	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72892604	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72892631	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72892638	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72892656	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72892689	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72892694	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72892702	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72894503	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72894513	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72894523	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72894527	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72894533	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72894535	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72894537	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72894539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72894544	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72894546	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72894570	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72894585	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72894593	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72894596	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896508	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896517	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896518	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896520	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896524	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896534	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896555	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896556	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896558	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896559	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896560	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896567	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896581	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896586	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72896598	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898507	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898512	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898513	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898514	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898517	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898522	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898529	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898532	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898538	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72898539	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898542	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898545	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72898548	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898555	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898558	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898562	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72898566	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898569	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898573	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898574	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898578	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72898581	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898584	0.86[EUR][1000 genomes]
rs72898600	0.86[AMR][1000 genomes]
rs72900543	0.86[AMR][1000 genomes]
rs7562034	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7565260	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7567370	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7577407	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7597417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1005281	chr2:183803173-184093877	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv875485	chr2:183827018-184195265	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1010799	chr2:183855680-184244721	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv536072	chr2:183855680-184244721	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv875486	chr2:184016627-184095979	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:184029200-184062800	Weak transcription	Rectal Smooth Muscle	rectum
2	chr2:184044000-184063000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr2:184044400-184071600	Weak transcription	NH-A	brain
4	chr2:184047800-184078400	Weak transcription	Colon Smooth Muscle	Colon
5	chr2:184048800-184071800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:184049000-184072000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr2:184049000-184072600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr2:184049000-184078000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:184050400-184091600	Weak transcription	Psoas Muscle	Psoas
10	chr2:184050600-184066000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:184050600-184071400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr2:184052400-184066200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:184052400-184071400	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:184052400-184071400	Weak transcription	Aorta	Aorta
15	chr2:184053000-184070200	Weak transcription	Brain Germinal Matrix	brain
16	chr2:184053000-184072000	Weak transcription	Left Ventricle	heart
17	chr2:184053000-184074200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:184053200-184076000	Weak transcription	Pancreas	Pancrea
19	chr2:184053800-184064000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr2:184053800-184067400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr2:184054000-184070600	Weak transcription	HepG2	liver
22	chr2:184054000-184071800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:184054000-184076200	Weak transcription	Primary B cells from cord blood	blood
24	chr2:184054600-184067600	Weak transcription	Primary hematopoietic stem cells	blood
25	chr2:184055000-184069200	Weak transcription	Liver	Liver
26	chr2:184055600-184071600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr2:184055600-184076400	Weak transcription	Primary T cells from cord blood	blood
28	chr2:184056400-184065200	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr2:184056600-184069200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr2:184056600-184069800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:184056800-184065800	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr2:184056800-184072200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr2:184056800-184073800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:184058400-184069200	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr2:184058400-184072400	Weak transcription	Dnd41	blood
36	chr2:184058800-184074200	Weak transcription	A549	lung
37	chr2:184060200-184064400	Weak transcription	GM12878-XiMat	blood
38	chr2:184061800-184063000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr2:184061800-184064400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr2:184061800-184074200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr2:184062000-184064000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr2:184062400-184062800	Enhancers	Fetal Heart	heart
43	chr2:184062400-184062800	ZNF genes & repeats	Ovary	ovary
44	chr2:184062400-184062800	Enhancers	K562	blood

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