Variant report

Variant	rs3783521
Chromosome Location	chr2:113543577-113543578
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	chr2:113541166..113543599-chr2:113589793..113591896,2	K562	blood:
2	chr2:113519458..113523816-chr2:113539890..113544534,4	K562	blood:

Variant related genes	Relation type
ENSG00000125538	Chromatin interaction
ENSG00000169607	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10165537	0.81[CHB][hapmap]
rs10167914	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10193063	0.81[CHB][hapmap]
rs10200192	0.81[CHB][hapmap];1.00[YRI][hapmap]
rs10496444	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10496445	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11676014	0.92[ASN][1000 genomes]
rs11687624	0.95[ASN][1000 genomes]
rs12471565	0.95[CEU][hapmap];0.91[CHB][hapmap];0.87[CHD][hapmap];0.88[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.94[TSI][hapmap];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12478842	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12612788	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12622683	0.81[CHB][hapmap]
rs12711741	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13000462	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13008855	1.00[YRI][hapmap]
rs13009294	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13013602	0.81[CHB][hapmap]
rs13015273	0.90[CHB][hapmap]
rs13016817	0.90[CHB][hapmap]
rs13019249	0.84[CHB][hapmap];1.00[YRI][hapmap]
rs13026263	0.81[CHB][hapmap];1.00[YRI][hapmap]
rs13027814	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1533463	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1609682	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.97[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17649681	0.81[CHB][hapmap];1.00[YRI][hapmap]
rs1969294	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2071373	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2071376	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2856838	0.81[CHB][hapmap]
rs3783512	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783513	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783515	0.81[CHB][hapmap]
rs3783516	0.81[CHB][hapmap]
rs3783525	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.97[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783526	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783533	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783543	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783546	1.00[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]
rs3783550	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.97[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3811040	0.81[CHB][hapmap];1.00[YRI][hapmap]
rs4402765	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4848298	0.81[CHB][hapmap];1.00[YRI][hapmap]
rs4848301	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4848302	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4849115	1.00[YRI][hapmap]
rs6542095	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.97[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6712572	0.81[CHB][hapmap];1.00[YRI][hapmap]
rs6721044	0.81[CHB][hapmap]
rs6746923	0.81[CHB][hapmap]
rs6753803	0.81[CHB][hapmap]
rs7369378	0.92[ASN][1000 genomes]
rs74182856	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7567619	0.95[CEU][hapmap];0.90[CHB][hapmap];0.94[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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113534000-113551800	Weak transcription	Fetal Heart	heart
2	chr2:113540200-113543800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr2:113541000-113543800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:113542000-113545200	Weak transcription	Adipose Nuclei	Adipose
5	chr2:113542200-113543600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:113542200-113545600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:113542400-113543600	Enhancers	H1 Cell Line	embryonic stem cell
8	chr2:113542400-113543600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr2:113542400-113543600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr2:113542400-113545000	Weak transcription	Primary B cells from cord blood	blood
11	chr2:113542400-113545200	Enhancers	HUVEC	blood vessel
12	chr2:113542400-113546600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:113542400-113559200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr2:113542600-113544600	Weak transcription	K562	blood
15	chr2:113542600-113545000	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr2:113542600-113548600	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr2:113543000-113544200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr2:113543000-113544400	Enhancers	NHEK	skin
19	chr2:113543000-113545600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:113543000-113547800	Weak transcription	Hela-S3	cervix
21	chr2:113543000-113562200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr2:113543200-113543800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr2:113543200-113544400	Weak transcription	HMEC	breast
24	chr2:113543200-113544600	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr2:113543200-113548600	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr2:113543400-113543600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:113543400-113544600	Weak transcription	Primary hematopoietic stem cells	blood

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