Variant report

Variant	rs3783513
Chromosome Location	chr2:113547470-113547471
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10165537	0.82[CHB][hapmap]
rs10167914	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10193063	0.82[CHB][hapmap]
rs10200192	0.82[CHB][hapmap]
rs10496444	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10496445	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11676014	0.92[ASN][1000 genomes]
rs11687624	0.95[ASN][1000 genomes]
rs12471565	0.91[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12478842	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12612788	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12622683	0.81[CHB][hapmap]
rs12711741	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13000462	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13009294	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13013602	0.82[CHB][hapmap]
rs13015273	0.90[CHB][hapmap]
rs13016817	0.90[CHB][hapmap]
rs13019249	0.84[CHB][hapmap]
rs13026263	0.81[CHB][hapmap]
rs13027814	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1533463	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1609682	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17649681	0.82[CHB][hapmap]
rs1969294	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2071373	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2071376	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783512	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783516	0.81[CHB][hapmap]
rs3783521	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783525	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783526	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783533	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783539	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783543	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783546	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783550	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3811040	0.81[CHB][hapmap]
rs4402765	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4848298	0.81[CHB][hapmap]
rs4848301	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4848302	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6542095	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6706663	0.81[CHB][hapmap]
rs6712572	0.82[CHB][hapmap]
rs6721044	0.82[CHB][hapmap]
rs6746923	0.81[CHB][hapmap]
rs6753803	0.81[CHB][hapmap]
rs7369378	0.92[ASN][1000 genomes]
rs74182856	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7567619	0.91[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap]
rs7577241	0.81[CHB][hapmap]
rs908551	0.81[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428724	chr2:113376894-113555421	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1010106	chr2:113394981-113556071	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 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	chr2:113534000-113551800	Weak transcription	Fetal Heart	heart
2	chr2:113542400-113559200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:113542600-113548600	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr2:113543000-113547800	Weak transcription	Hela-S3	cervix
5	chr2:113543000-113562200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:113543200-113548600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr2:113543600-113548800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr2:113543600-113548800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr2:113543800-113548600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:113545400-113550400	Weak transcription	HMEC	breast
11	chr2:113545600-113548000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:113545600-113548000	Weak transcription	NHEK	skin
13	chr2:113545600-113548600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:113545600-113550600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:113545600-113551000	Weak transcription	Adipose Nuclei	Adipose
16	chr2:113545800-113552400	Weak transcription	Primary B cells from cord blood	blood
17	chr2:113546400-113550600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:113546600-113550600	Weak transcription	HUVEC	blood vessel
19	chr2:113546600-113550800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:113546600-113551600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr2:113547000-113549800	Weak transcription	K562	blood
22	chr2:113547000-113550400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr2:113547200-113547600	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr2:113547200-113548800	Enhancers	HepG2	liver
25	chr2:113547400-113547800	Weak transcription	Monocytes-CD14+_RO01746	blood

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