Variant report

Variant	rs2121718
Chromosome Location	chr3:160603511-160603512
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs1037888	0.89[CEU][hapmap];1.00[JPT][hapmap]
rs10513559	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10513562	1.00[CEU][hapmap]
rs11708813	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11716265	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11922752	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11924510	0.82[EUR][1000 genomes]
rs12639128	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs13064176	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs13071909	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13086250	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs13089559	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs13092102	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13098884	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs1374793	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs1447618	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1447619	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1447620	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1455873	1.00[YRI][hapmap]
rs17236725	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs17236746	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs17826438	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs1839015	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1839021	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2306061	0.85[CEU][hapmap]
rs2367242	1.00[YRI][hapmap]
rs2593812	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs34297047	0.90[EUR][1000 genomes]
rs4679662	1.00[CEU][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4679666	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs4679922	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs4679924	0.96[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs4679926	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs5004752	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs55888276	0.81[EUR][1000 genomes]
rs55956394	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56665329	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62270272	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62270274	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62270275	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62280303	0.82[EUR][1000 genomes]
rs6441339	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6764019	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6796201	0.90[EUR][1000 genomes]
rs6799160	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6804650	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs6806054	1.00[CEU][hapmap]
rs6809177	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs723757	0.82[EUR][1000 genomes]
rs7622047	0.89[CEU][hapmap];1.00[JPT][hapmap]
rs7632423	1.00[CEU][hapmap]
rs778642	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs778643	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs778645	1.00[JPT][hapmap]
rs778649	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs778653	1.00[CEU][hapmap]
rs778654	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs778657	1.00[CEU][hapmap]
rs796609	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs898680	0.89[CEU][hapmap];1.00[JPT][hapmap]
rs898681	0.89[CEU][hapmap]
rs9290065	0.96[CEU][hapmap];1.00[JPT][hapmap]
rs9790132	0.96[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs980975	0.89[CEU][hapmap];1.00[JPT][hapmap]
rs980976	0.89[CEU][hapmap];1.00[JPT][hapmap]
rs9811594	1.00[CEU][hapmap]
rs9831488	1.00[JPT][hapmap]
rs9839885	1.00[YRI][hapmap]
rs9847866	0.96[CEU][hapmap];1.00[JPT][hapmap]
rs9860360	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs9875200	1.00[CEU][hapmap]

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	nsv532666	chr3:159777847-160703202	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv1009249	chr3:160496237-160627378	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv536780	chr3:160496237-160627378	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	esv3391648	chr3:160602299-160620598	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:160596400-160603800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr3:160602200-160604600	Enhancers	Fetal Thymus	thymus
3	chr3:160602200-160604600	Enhancers	Thymus	Thymus
4	chr3:160602800-160604400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr3:160602800-160604400	Enhancers	Brain Angular Gyrus	brain
6	chr3:160603000-160604000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr3:160603000-160604400	Enhancers	Psoas Muscle	Psoas
8	chr3:160603200-160603600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr3:160603200-160603600	ZNF genes & repeats	Esophagus	oesophagus
10	chr3:160603200-160603600	Enhancers	Fetal Stomach	stomach
11	chr3:160603200-160603600	Enhancers	Right Atrium	heart
12	chr3:160603200-160603600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr3:160603200-160603800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr3:160603200-160603800	Enhancers	GM12878-XiMat	blood
15	chr3:160603200-160604000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr3:160603200-160604000	Flanking Active TSS	Dnd41	blood
17	chr3:160603200-160604200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr3:160603200-160604200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr3:160603200-160604200	Enhancers	H9 Cell Line	embryonic stem cell
20	chr3:160603200-160604200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr3:160603200-160604200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr3:160603200-160604200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr3:160603200-160604200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr3:160603200-160604400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr3:160603200-160604400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr3:160603200-160604400	Enhancers	Adipose Nuclei	Adipose
27	chr3:160603200-160604400	Enhancers	Duodenum Mucosa	Duodenum
28	chr3:160603200-160604400	Enhancers	Left Ventricle	heart
29	chr3:160603200-160604600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr3:160603200-160604600	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr3:160603200-160604600	Enhancers	Fetal Muscle Leg	muscle
32	chr3:160603200-160604600	Enhancers	Placenta	Placenta
33	chr3:160603400-160603600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr3:160603400-160603600	Enhancers	Brain Substantia Nigra	brain
35	chr3:160603400-160603600	Flanking Active TSS	Fetal Muscle Trunk	muscle
36	chr3:160603400-160603800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr3:160603400-160603800	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr3:160603400-160603800	Enhancers	NHLF	lung
39	chr3:160603400-160604000	Enhancers	H1 Cell Line	embryonic stem cell
40	chr3:160603400-160604000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr3:160603400-160604000	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr3:160603400-160604000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr3:160603400-160604000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr3:160603400-160604000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr3:160603400-160604000	Flanking Active TSS	Brain Cingulate Gyrus	brain
46	chr3:160603400-160604000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
47	chr3:160603400-160604000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr3:160603400-160604000	Enhancers	Ovary	ovary
49	chr3:160603400-160604000	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr3:160603400-160604000	Enhancers	Spleen	Spleen

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