Variant report

Variant	rs278374
Chromosome Location	chr3:98478399-98478400
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:98475428..98477221-chr3:98477568..98479481,2	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10470451	0.84[ASN][1000 genomes]
rs115931	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11923134	0.86[ASN][1000 genomes]
rs13315676	0.86[ASN][1000 genomes]
rs1440158	0.81[CHB][hapmap]
rs1530655	0.91[CHB][hapmap];0.86[YRI][hapmap];0.85[ASN][1000 genomes]
rs278363	0.82[CEU][hapmap];0.81[JPT][hapmap];0.86[EUR][1000 genomes]
rs278370	0.81[CEU][hapmap];0.82[GIH][hapmap];0.83[MEX][hapmap];0.82[TSI][hapmap];0.81[AMR][1000 genomes]
rs278373	0.82[CEU][hapmap];0.81[CHD][hapmap];0.91[GIH][hapmap];0.91[JPT][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap]
rs28553326	0.88[ASN][1000 genomes]
rs28707457	0.88[ASN][1000 genomes]
rs3755569	0.82[CHB][hapmap];0.81[CHD][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs3755570	0.87[ASN][1000 genomes]
rs3772091	0.85[ASN][1000 genomes]
rs3821358	0.93[ASW][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.81[YRI][hapmap];0.85[ASN][1000 genomes]
rs4638909	0.85[ASN][1000 genomes]
rs56976804	0.88[ASN][1000 genomes]
rs60464352	0.86[ASN][1000 genomes]
rs62278471	0.88[ASN][1000 genomes]
rs7611040	0.82[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs7614161	0.88[ASN][1000 genomes]
rs7634817	0.83[JPT][hapmap]
rs7643537	0.85[ASN][1000 genomes]
rs828589	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs828593	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs828594	0.93[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.91[YRI][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs828595	0.85[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.89[TSI][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs828596	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs828597	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs828598	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap]
rs828599	0.95[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.83[TSI][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs828602	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs828613	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs844159	0.86[EUR][1000 genomes]
rs844161	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs865474	0.86[EUR][1000 genomes]
rs893831	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs893832	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9879927	0.86[CHB][hapmap];0.81[CHD][hapmap];0.91[JPT][hapmap];0.88[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	esv3390386	chr3:98174549-98579953	Genic enhancers Strong transcription Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv591065	chr3:98204198-98766326	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1007140	chr3:98421229-99202458	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv536663	chr3:98421229-99202458	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv877214	chr3:98445324-98738006	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98456600-98479600	Weak transcription	Dnd41	blood
2	chr3:98463400-98481600	Weak transcription	Right Ventricle	heart
3	chr3:98469600-98480600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr3:98469800-98479000	Weak transcription	Right Atrium	heart
5	chr3:98469800-98480800	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr3:98469800-98481800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:98469800-98481800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr3:98469800-98482200	Weak transcription	Psoas Muscle	Psoas
9	chr3:98470000-98481800	Weak transcription	Aorta	Aorta
10	chr3:98470000-98482600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr3:98470200-98480200	Weak transcription	Thymus	Thymus
12	chr3:98475200-98480200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr3:98475400-98479000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr3:98475400-98489400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr3:98475600-98479000	Weak transcription	Placenta	Placenta
16	chr3:98475600-98480000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr3:98476400-98489400	Weak transcription	HepG2	liver
18	chr3:98477000-98490200	Enhancers	Fetal Heart	heart
19	chr3:98477400-98478400	Enhancers	Brain Hippocampus Middle	brain
20	chr3:98477400-98478600	Enhancers	GM12878-XiMat	blood
21	chr3:98477400-98479000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr3:98477400-98479200	Enhancers	Liver	Liver
23	chr3:98477400-98480600	Weak transcription	Primary T cells from cord blood	blood
24	chr3:98477600-98479200	Weak transcription	HUVEC	blood vessel
25	chr3:98477800-98478400	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr3:98477800-98479200	Enhancers	Left Ventricle	heart
27	chr3:98478000-98478600	Weak transcription	Brain Substantia Nigra	brain
28	chr3:98478000-98478600	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr3:98478000-98479000	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr3:98478200-98479000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:98478200-98479000	Weak transcription	Fetal Thymus	thymus
32	chr3:98478200-98480400	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr3:98478200-98480600	Weak transcription	Brain Anterior Caudate	brain
34	chr3:98478200-98481000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr3:98478200-98482000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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