Variant report

Variant	rs1491980
Chromosome Location	chr3:151045661-151045662
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:151029737..151031573-chr3:151044175..151046393,2	MCF-7	breast:
2	chr3:151008127..151009123-chr3:151045003..151046087,3	MCF-7	breast:
3	chr3:151021234..151025100-chr3:151041293..151045950,7	MCF-7	breast:
4	chr3:150945207..150946162-chr3:151045062..151046047,6	K562	blood:
5	chr3:150945279..150946102-chr3:151045158..151045936,2	MCF-7	breast:
6	chr3:151045500..151046403-chr3:151556475..151557090,2	K562	blood:
7	chr3:151008218..151009783-chr3:151044914..151046119,9	MCF-7	breast:
8	chr3:151033641..151035853-chr3:151044142..151046293,2	MCF-7	breast:
9	chr3:151021027..151023183-chr3:151044316..151046639,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000138271	Chromatin interaction
ENSG00000144893	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10935838	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11922647	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1352887	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1388619	0.91[ASN][1000 genomes]
rs1388622	0.93[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1388623	0.93[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1388624	0.93[CHB][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs1388626	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1463727	0.84[CEU][hapmap]
rs1466684	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1472121	0.85[CEU][hapmap]
rs1491978	0.93[CHB][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs1491979	0.93[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1491981	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1873619	0.85[CEU][hapmap]
rs1873622	0.93[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1907637	0.83[CEU][hapmap]
rs2046934	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2141631	0.82[CEU][hapmap];0.81[CHB][hapmap]
rs2172249	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2242353	0.85[CEU][hapmap]
rs2870517	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs3732762	0.91[ASN][1000 genomes]
rs3732764	0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs3821667	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3971191	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3975401	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3975403	0.93[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs3975404	0.83[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4146770	0.89[CEU][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes]
rs4603933	0.83[CEU][hapmap]
rs4679802	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4680374	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6440731	0.94[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6440732	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6440735	0.85[CEU][hapmap]
rs6440739	0.83[CEU][hapmap]
rs6763983	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6767266	0.85[CEU][hapmap]
rs6769397	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6782212	0.93[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6790748	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6803224	0.85[CEU][hapmap]
rs6809388	0.85[JPT][hapmap]
rs6809699	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6809705	0.85[JPT][hapmap]
rs7611328	0.89[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs7615865	0.93[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7616382	0.84[CEU][hapmap]
rs7620353	0.88[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs7621876	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7623356	0.85[CEU][hapmap]
rs7633362	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs937124	0.83[CEU][hapmap]
rs9820422	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9849395	0.83[CEU][hapmap]
rs9863821	0.85[CEU][hapmap]
rs9863983	0.84[CEU][hapmap]
rs9864095	0.85[CEU][hapmap]
rs9865758	0.85[CEU][hapmap]
rs9877389	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9878459	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

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	nsv460894	chr3:150770614-151095093	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv592045	chr3:150770614-151095093	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	esv2754555	chr3:150968302-151054302	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv829757	chr3:151044880-151226442	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:151038800-151046400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr3:151042600-151046200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:151044400-151047000	Active TSS	Brain Hippocampus Middle	brain
4	chr3:151044600-151046200	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
5	chr3:151045000-151045800	Active TSS	Primary B cells from cord blood	blood
6	chr3:151045000-151046000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr3:151045000-151046800	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr3:151045000-151046800	Active TSS	Brain Cingulate Gyrus	brain
9	chr3:151045000-151046800	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr3:151045000-151047200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
11	chr3:151045000-151047200	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr3:151045200-151046000	Enhancers	NHLF	lung
13	chr3:151045200-151046200	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr3:151045200-151046200	Enhancers	Brain Anterior Caudate	brain
15	chr3:151045200-151046200	Enhancers	HMEC	breast
16	chr3:151045200-151046200	Enhancers	NHEK	skin
17	chr3:151045200-151046600	Active TSS	Brain Substantia Nigra	brain
18	chr3:151045200-151046800	Active TSS	Duodenum Mucosa	Duodenum
19	chr3:151045200-151046800	Active TSS	Right Atrium	heart
20	chr3:151045200-151047000	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr3:151045200-151047600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr3:151045400-151045800	Weak transcription	Hela-S3	cervix
23	chr3:151045400-151046000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr3:151045400-151046200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr3:151045400-151046200	Enhancers	A549	lung
26	chr3:151045400-151046400	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr3:151045400-151046400	Weak transcription	Liver	Liver
28	chr3:151045400-151047400	Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr3:151045400-151047800	Active TSS	Primary monocytes fromperipheralblood	blood
30	chr3:151045600-151046200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr3:151045600-151046200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr3:151045600-151046600	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr3:151045600-151046600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr3:151045600-151047200	Active TSS	Primary T cells from cord blood	blood
35	chr3:151045600-151047800	Flanking Active TSS	Primary hematopoietic stem cells	blood
36	chr3:151045600-151056600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr3:151045600-151063600	Weak transcription	Brain Angular Gyrus	brain

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