Variant report

Variant	rs2121949
Chromosome Location	chr3:81671394-81671395
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:81652021..81654582-chr3:81671146..81673581,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11917558	0.82[CEU][hapmap];0.83[CHB][hapmap]
rs13061830	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs13071810	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13082609	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13082940	1.00[CEU][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13094809	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17018967	0.82[AMR][1000 genomes]
rs17019030	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17019088	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1907880	1.00[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2015553	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs34221009	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34439726	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34674953	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34880320	0.82[AMR][1000 genomes]
rs35259664	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35395999	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35628094	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35754586	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35942842	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3772891	0.81[CEU][hapmap];0.80[JPT][hapmap]
rs3772915	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56397849	0.83[AMR][1000 genomes]
rs62265393	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs62265395	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs62265397	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62265418	0.93[ASN][1000 genomes]
rs6764261	0.83[CHB][hapmap]
rs7610703	0.83[CEU][hapmap];0.83[CHB][hapmap]
rs7618973	0.82[CHB][hapmap]
rs7624045	0.80[AMR][1000 genomes]
rs7639135	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs820272	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9845467	0.82[CEU][hapmap];0.82[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933756	chr3:81413060-81754738	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1003217	chr3:81435044-81752521	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1012133	chr3:81499082-81817471	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv933259	chr3:81523854-81730617	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv949545	chr3:81523898-81893929	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv999587	chr3:81534364-81707800	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv536603	chr3:81534364-81707800	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1009607	chr3:81651419-81825151	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv536604	chr3:81651419-81825151	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv834749	chr3:81655377-81818880	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:81603600-81726400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr3:81613600-81699200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr3:81614000-81693600	Weak transcription	Aorta	Aorta
4	chr3:81614400-81688800	Weak transcription	Right Ventricle	heart
5	chr3:81626400-81671800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr3:81627400-81755000	Weak transcription	Primary B cells from cord blood	blood
7	chr3:81635000-81700800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr3:81642000-81753000	Weak transcription	HUVEC	blood vessel
9	chr3:81642200-81677000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr3:81642200-81712200	Weak transcription	Ovary	ovary
11	chr3:81650600-81674600	Weak transcription	Left Ventricle	heart
12	chr3:81661400-81673200	Weak transcription	HMEC	breast
13	chr3:81661800-81690600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr3:81662000-81688800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr3:81662200-81688800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr3:81662200-81691200	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr3:81662200-81699800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr3:81662200-81703000	Weak transcription	HSMMtube	muscle
19	chr3:81662600-81677400	Weak transcription	Adipose Nuclei	Adipose
20	chr3:81662600-81688800	Weak transcription	Psoas Muscle	Psoas
21	chr3:81662800-81681800	Weak transcription	Liver	Liver
22	chr3:81662800-81690600	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr3:81666000-81679600	Weak transcription	GM12878-XiMat	blood
24	chr3:81666200-81674200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr3:81668000-81671600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr3:81668000-81688800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr3:81668200-81674400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr3:81668200-81679200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr3:81668200-81688200	Weak transcription	HSMM	muscle
30	chr3:81669600-81671800	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr3:81669800-81671800	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr3:81669800-81672000	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr3:81669800-81675400	Strong transcription	Dnd41	blood
34	chr3:81670200-81674400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr3:81670400-81671600	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr3:81670400-81671800	Weak transcription	NHDF-Ad	bronchial
37	chr3:81670600-81672600	Enhancers	Osteobl	bone
38	chr3:81670800-81671600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr3:81670800-81672200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr3:81670800-81674000	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr3:81671000-81671400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr3:81671000-81672400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr3:81671200-81671400	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr3:81671200-81672000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr3:81671200-81674800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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