Variant report

Variant	rs4928220
Chromosome Location	chr3:99479549-99479550
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1038295	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10804762	0.87[ASN][1000 genomes]
rs1111615	0.81[CHB][hapmap]
rs12485299	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12486901	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[ASN][1000 genomes]
rs12487173	0.81[EUR][1000 genomes]
rs12489030	0.83[ASN][1000 genomes]
rs12491153	1.00[CEU][hapmap]
rs12493124	1.00[CEU][hapmap]
rs1492343	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1610263	0.80[CEU][hapmap]
rs1610265	0.89[CEU][hapmap];0.90[CHB][hapmap];0.85[EUR][1000 genomes]
rs1871847	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.85[YRI][hapmap];0.95[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1971381	0.88[JPT][hapmap]
rs2036984	0.80[CEU][hapmap];0.90[CHB][hapmap]
rs35590972	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs3732444	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3921767	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs4408901	0.85[JPT][hapmap]
rs4536867	0.80[CEU][hapmap];0.90[CHB][hapmap]
rs4928143	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4928144	0.88[JPT][hapmap]
rs4928219	1.00[JPT][hapmap]
rs4928222	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55964918	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs56094673	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56140081	0.83[ASN][1000 genomes]
rs56223679	0.83[ASN][1000 genomes]
rs56260910	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs56335268	0.81[ASN][1000 genomes]
rs60119031	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61010376	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6789694	0.93[EUR][1000 genomes]
rs6792339	0.83[ASN][1000 genomes]
rs6800456	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.83[ASN][1000 genomes]
rs73858966	0.83[ASN][1000 genomes]
rs73859911	0.83[ASN][1000 genomes]
rs73860464	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73860470	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7614366	0.80[CHD][hapmap];0.88[JPT][hapmap]
rs7632327	0.88[JPT][hapmap]
rs7632345	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7635633	1.00[CEU][hapmap]
rs7635871	0.83[ASN][1000 genomes]
rs9821563	0.80[CEU][hapmap];0.90[CHB][hapmap]
rs9836385	0.81[CHB][hapmap]
rs9858145	0.80[CEU][hapmap];0.90[CHB][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	nsv877217	chr3:99418950-99496351	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv508231	chr3:99442020-99498951	Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv817478	chr3:99474086-99955548	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv916476	chr3:99478229-100124625	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99462400-99495600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr3:99472400-99479600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr3:99472400-99480400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:99472400-99481400	Weak transcription	Psoas Muscle	Psoas
5	chr3:99472400-99484000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr3:99472400-99484000	Weak transcription	NHLF	lung
7	chr3:99472400-99493000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr3:99472400-99493000	Weak transcription	NHEK	skin
9	chr3:99472400-99493400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr3:99472600-99483800	Weak transcription	NH-A	brain
11	chr3:99474800-99481400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr3:99474800-99486200	Weak transcription	NHDF-Ad	bronchial
13	chr3:99477000-99481400	Enhancers	Fetal Heart	heart
14	chr3:99477200-99480200	Genic enhancers	Osteobl	bone
15	chr3:99477400-99480000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr3:99477400-99480200	Weak transcription	HSMMtube	muscle
17	chr3:99477600-99481600	Weak transcription	HUVEC	blood vessel
18	chr3:99478200-99481200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr3:99478400-99481000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr3:99478800-99480600	Enhancers	Colon Smooth Muscle	Colon
21	chr3:99478800-99481400	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr3:99479000-99479800	Enhancers	Left Ventricle	heart
23	chr3:99479000-99479800	Enhancers	Ovary	ovary
24	chr3:99479000-99480600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr3:99479000-99480600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr3:99479000-99481000	Enhancers	HSMM	muscle
27	chr3:99479000-99482800	Enhancers	Adipose Nuclei	Adipose
28	chr3:99479200-99482200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr3:99479200-99482600	Weak transcription	Right Atrium	heart
30	chr3:99479200-99484000	Weak transcription	Aorta	Aorta
31	chr3:99479400-99480600	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr3:99479400-99480600	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr3:99479400-99480800	Enhancers	Rectal Smooth Muscle	rectum

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