Variant report

Variant	rs4680577
Chromosome Location	chr3:160053532-160053533
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	chr3:160026622..160029312-chr3:160052917..160054471,2	K562	blood:
2	chr3:160048185..160050599-chr3:160052965..160056025,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10936199	0.82[CEU][hapmap]
rs1141023	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17236389	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17236452	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17236487	0.94[CEU][hapmap];0.82[CHB][hapmap];0.84[EUR][1000 genomes]
rs17826161	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1882128	0.96[ASN][1000 genomes]
rs1979160	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2029361	0.88[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2152424	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2272489	0.96[ASN][1000 genomes]
rs35281166	0.88[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3737214	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs41272955	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41272957	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4254702	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4434183	0.96[ASN][1000 genomes]
rs4679879	0.83[CEU][hapmap];0.82[CHB][hapmap]
rs4679880	0.83[CEU][hapmap]
rs4679883	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4679887	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4679894	0.96[ASN][1000 genomes]
rs4680582	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4680590	0.88[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55853078	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55930449	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56030166	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56051094	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56322040	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6776582	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6778728	0.84[CEU][hapmap];0.82[CHB][hapmap]
rs6806971	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73154549	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73154552	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73154567	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73154591	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73154596	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73154600	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73154602	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73155903	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73155920	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73155922	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73155924	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7622031	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv1000453	chr3:159853305-160366357	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	259 gene(s)	inside rSNPs	diseases
3	nsv536779	chr3:159853305-160366357	Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	259 gene(s)	inside rSNPs	diseases
4	esv1800136	chr3:159950498-160278160	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
5	esv1801767	chr3:159950498-160279411	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
6	esv1801474	chr3:160012843-160153305	Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	206 gene(s)	inside rSNPs	diseases
7	nsv1008519	chr3:160038710-160292589	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	255 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:159977800-160073000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr3:160025400-160056000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr3:160025400-160073000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr3:160025600-160072000	Weak transcription	Thymus	Thymus
5	chr3:160025600-160073200	Weak transcription	Left Ventricle	heart
6	chr3:160030200-160056000	Weak transcription	Fetal Stomach	stomach
7	chr3:160033800-160055400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr3:160034600-160055600	Weak transcription	Fetal Muscle Leg	muscle
9	chr3:160034800-160082800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr3:160037000-160070200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr3:160037200-160055600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr3:160037200-160056200	Weak transcription	Primary T cells from cord blood	blood
13	chr3:160037400-160055800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr3:160046800-160055600	Weak transcription	Fetal Lung	lung
15	chr3:160049400-160090600	Weak transcription	NH-A	brain
16	chr3:160049600-160055800	Weak transcription	HSMM	muscle
17	chr3:160049600-160056000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr3:160049600-160056600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr3:160049800-160073200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr3:160050000-160055800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr3:160050400-160064400	Weak transcription	Ovary	ovary
22	chr3:160052000-160055400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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