Variant report

Variant	rs11683272
Chromosome Location	chr2:180423275-180423276
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10169569	1.00[JPT][hapmap]
rs11674582	1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11688895	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11894850	1.00[JPT][hapmap]
rs12693194	1.00[JPT][hapmap]
rs12986652	1.00[CEU][hapmap]
rs12991713	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13000199	1.00[CEU][hapmap]
rs13002104	0.87[EUR][1000 genomes]
rs13030456	1.00[JPT][hapmap]
rs13035596	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1399692	1.00[JPT][hapmap]
rs1515297	1.00[JPT][hapmap]
rs1515298	1.00[JPT][hapmap]
rs16866782	1.00[JPT][hapmap]
rs16866810	1.00[CEU][hapmap]
rs16866857	1.00[CEU][hapmap]
rs17816271	1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2203459	1.00[JPT][hapmap]
rs2222032	0.85[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3112931	1.00[JPT][hapmap]
rs34017185	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35279307	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35821053	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35860816	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36040054	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4267476	1.00[JPT][hapmap]
rs4530328	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6433796	1.00[JPT][hapmap]
rs6722937	0.86[JPT][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71425634	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71425635	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71425637	0.88[EUR][1000 genomes]
rs7579911	1.00[JPT][hapmap]
rs868271	1.00[JPT][hapmap]
rs868273	1.00[JPT][hapmap]
rs868274	1.00[JPT][hapmap]
rs999000	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875470	chr2:180400021-180432529	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv523865	chr2:180403128-180426764	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv2760587	chr2:180409470-180430552	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv10203	chr2:180410181-180423829	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv2763635	chr2:180411003-180425692	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1002389	chr2:180413350-180425692	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3505278	chr2:180415507-180423555	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3505279	chr2:180416057-180423555	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	inside rSNPs	diseases
9	esv3505280	chr2:180416057-180423555	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
10	esv3460369	chr2:180417407-180424005	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases
11	esv3460370	chr2:180417407-180424005	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
12	nsv1009492	chr2:180418199-180429152	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
13	nsv1013108	chr2:180418199-180430057	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
14	nsv1008996	chr2:180418199-180430552	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180408400-180423400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:180415600-180426600	Weak transcription	Fetal Brain Male	brain
3	chr2:180415800-180432400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:180417000-180426800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:180420800-180425800	Weak transcription	Right Atrium	heart
6	chr2:180421400-180423400	Weak transcription	Psoas Muscle	Psoas
7	chr2:180421600-180426800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr2:180422400-180423800	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr2:180422400-180423800	Flanking Active TSS	HepG2	liver
10	chr2:180422600-180423600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr2:180422600-180423600	Enhancers	Fetal Intestine Small	intestine
12	chr2:180422600-180423800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:180422600-180423800	Enhancers	Fetal Intestine Large	intestine
14	chr2:180422800-180423400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:180422800-180423600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:180422800-180423600	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr2:180422800-180424200	Enhancers	Gastric	stomach
18	chr2:180422800-180424200	Enhancers	Pancreas	Pancrea
19	chr2:180423000-180423400	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr2:180423000-180424200	Flanking Active TSS	Liver	Liver
21	chr2:180423000-180425000	Weak transcription	Fetal Lung	lung
22	chr2:180423000-180427000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr2:180423200-180423600	Enhancers	Rectal Mucosa Donor 29	rectum
24	chr2:180423200-180426800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr2:180423200-180426800	Weak transcription	Fetal Kidney	kidney

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