Variant report

Variant	rs7721578
Chromosome Location	chr5:42507796-42507797
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	chr5:42507143..42509893-chr5:42561185..42563258,2	K562	blood:
2	chr5:42497451..42499890-chr5:42506080..42508067,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10941577	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11739243	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11741390	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11748084	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12514403	0.92[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs13153388	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13166255	0.92[ASN][1000 genomes]
rs13166285	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13169289	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13178282	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13178652	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13189275	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1509460	0.82[CEU][hapmap];0.83[CHB][hapmap]
rs1509462	0.83[CHB][hapmap];0.85[JPT][hapmap];0.95[ASN][1000 genomes]
rs1509463	0.92[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2089645	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28943875	0.95[ASN][1000 genomes]
rs2940913	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2940923	0.93[CEU][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2940937	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2940944	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972392	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972393	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972408	0.93[CEU][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2972418	0.81[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2972420	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33956936	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35500216	0.98[ASN][1000 genomes]
rs4130114	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4509029	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4530764	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4866790	0.92[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4866931	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4866932	0.95[ASN][1000 genomes]
rs4866933	0.95[ASN][1000 genomes]
rs4866934	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4866935	0.92[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs58179197	0.95[ASN][1000 genomes]
rs6451621	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6451622	0.86[ASN][1000 genomes]
rs6451624	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6897318	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7705834	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7707482	0.81[AMR][1000 genomes]
rs7710528	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7723304	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
2	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
3	nsv948514	chr5:42270161-42519262	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1020464	chr5:42488628-42699394	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1018751	chr5:42491883-42697923	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42498600-42514800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:42503000-42508400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr5:42503400-42507800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr5:42503600-42510200	Enhancers	Liver	Liver
5	chr5:42506800-42508400	Enhancers	Colon Smooth Muscle	Colon
6	chr5:42507000-42508200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:42507000-42508400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:42507000-42508600	Enhancers	Fetal Stomach	stomach
9	chr5:42507200-42507800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr5:42507400-42507800	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr5:42507400-42508000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr5:42507400-42508200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr5:42507400-42508200	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr5:42507400-42508200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr5:42507400-42508400	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr5:42507400-42508400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:42507400-42508600	Enhancers	Fetal Heart	heart
18	chr5:42507600-42507800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:42507600-42508000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr5:42507600-42508000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:42507600-42508000	Enhancers	Aorta	Aorta
22	chr5:42507600-42508000	Enhancers	Rectal Smooth Muscle	rectum
23	chr5:42507600-42508200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr5:42507600-42508200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr5:42507600-42508400	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr5:42507600-42508400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:42507600-42508400	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr5:42507600-42508400	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr5:42507600-42508400	Flanking Active TSS	Fetal Lung	lung
30	chr5:42507600-42508400	Enhancers	Fetal Muscle Leg	muscle
31	chr5:42507600-42508400	Enhancers	Left Ventricle	heart
32	chr5:42507600-42508400	Enhancers	Psoas Muscle	Psoas
33	chr5:42507600-42508400	Enhancers	Right Atrium	heart
34	chr5:42507600-42508400	Enhancers	Right Ventricle	heart
35	chr5:42507600-42508400	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr5:42507600-42508400	Enhancers	Spleen	Spleen
37	chr5:42507600-42508600	Enhancers	Adipose Nuclei	Adipose
38	chr5:42507600-42508600	Enhancers	Ovary	ovary

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