Variant report

Variant	rs72886518
Chromosome Location	chr2:183781045-183781046
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:183767158..183769431-chr2:183778659..183782092,3	K562	blood:
2	chr2:183778975..183782738-chr2:183784220..183787705,4	K562	blood:
3	chr2:183771103..183773642-chr2:183778453..183781754,3	K562	blood:

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs1473614	0.83[EUR][1000 genomes]
rs1473615	0.83[EUR][1000 genomes]
rs1473616	0.83[EUR][1000 genomes]
rs2675054	0.83[EUR][1000 genomes]
rs2705715	0.83[EUR][1000 genomes]
rs2705718	0.83[EUR][1000 genomes]
rs2705719	0.83[EUR][1000 genomes]
rs2705720	0.83[EUR][1000 genomes]
rs2705721	0.83[EUR][1000 genomes]
rs35142583	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs36077496	1.00[AMR][1000 genomes]
rs55657876	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55696219	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55957340	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56152140	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56182353	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6707761	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6712479	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6743323	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6750392	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72886527	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72886538	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72886541	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72886545	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72886547	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72886553	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72886557	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72886568	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72886577	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72886596	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72886600	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72888431	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72888449	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72888452	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72888461	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72888464	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72888472	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72888474	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72888478	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72888481	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72888488	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72888489	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72890307	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72890345	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72890349	0.87[AMR][1000 genomes]
rs72890352	1.00[AMR][1000 genomes]
rs72890353	1.00[AMR][1000 genomes]
rs72890370	1.00[AMR][1000 genomes]
rs72890384	1.00[AMR][1000 genomes]
rs72890392	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72890398	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72892604	1.00[AMR][1000 genomes]
rs72892631	0.81[AMR][1000 genomes]
rs72892638	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72892656	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72892689	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72892694	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72892702	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72894503	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72894513	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72894523	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72894527	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72894533	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72894535	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72894537	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72894539	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72894544	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72894546	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72900766	1.00[AMR][1000 genomes]
rs72900772	1.00[AMR][1000 genomes]
rs72900775	1.00[AMR][1000 genomes]
rs72900780	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7566497	1.00[AMR][1000 genomes]
rs7567370	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7577407	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	esv2757842	chr2:183437700-183835084	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2759104	chr2:183437700-183835084	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv34847	chr2:183537399-183786763	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv818096	chr2:183701588-183827018	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183757400-183797800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:183765200-183792800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:183765600-183805200	Weak transcription	Gastric	stomach
4	chr2:183768600-183811600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr2:183769800-183811800	Weak transcription	Small Intestine	intestine
6	chr2:183770600-183786000	Weak transcription	Brain Substantia Nigra	brain
7	chr2:183770800-183787200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr2:183772400-183791000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:183772400-183799200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr2:183772400-183811800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:183772800-183786200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr2:183773400-183866000	Weak transcription	Colonic Mucosa	Colon
13	chr2:183773400-183877800	Weak transcription	Stomach Mucosa	stomach
14	chr2:183773600-183785000	Weak transcription	Fetal Kidney	kidney
15	chr2:183773600-183793000	Weak transcription	Fetal Brain Male	brain
16	chr2:183775000-183787000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr2:183775200-183784400	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr2:183775600-183833000	Weak transcription	Pancreas	Pancrea
19	chr2:183776000-183783600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr2:183776000-183785000	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr2:183776200-183786000	Weak transcription	Aorta	Aorta
22	chr2:183777000-183782200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr2:183777000-183783200	Strong transcription	Fetal Intestine Large	intestine
24	chr2:183777600-183781400	Strong transcription	Fetal Muscle Trunk	muscle
25	chr2:183777600-183782200	Strong transcription	K562	blood
26	chr2:183777800-183781400	Strong transcription	Adipose Nuclei	Adipose
27	chr2:183777800-183787200	Weak transcription	HepG2	liver
28	chr2:183778000-183782200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr2:183778000-183785400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:183778400-183781800	Weak transcription	HUVEC	blood vessel
31	chr2:183778800-183784400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:183778800-183786200	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr2:183779000-183792800	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr2:183779400-183781200	Genic enhancers	Placenta	Placenta
35	chr2:183779400-183781200	Enhancers	NHLF	lung
36	chr2:183779400-183781400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr2:183779400-183782200	Strong transcription	Fetal Brain Female	brain
38	chr2:183779600-183781200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr2:183779600-183781400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr2:183779600-183781400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr2:183779600-183781400	Genic enhancers	HMEC	breast
42	chr2:183779600-183781400	Genic enhancers	HSMM	muscle
43	chr2:183779600-183781400	Genic enhancers	HSMMtube	muscle
44	chr2:183779600-183782400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr2:183779800-183781200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:183779800-183781200	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:183779800-183781200	Strong transcription	Brain Hippocampus Middle	brain
48	chr2:183779800-183781200	Enhancers	Fetal Heart	heart
49	chr2:183779800-183781200	Enhancers	Placenta Amnion	Placenta Amnion
50	chr2:183779800-183781400	Strong transcription	Duodenum Mucosa	Duodenum

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