Variant report

Variant	rs2252084
Chromosome Location	chr3:120191274-120191275
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:120189185..120191313-chr3:120225259..120226793,2	MCF-7	breast:
2	chr3:120189073..120191673-chr3:120312658..120315180,2	MCF-7	breast:
3	chr3:120185144..120187635-chr3:120188543..120191304,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000065518	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1123897	0.94[CHB][hapmap]
rs1123898	0.81[ASN][1000 genomes]
rs1147709	0.83[CHB][hapmap]
rs1147713	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1147717	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1147720	0.88[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1259308	0.82[AFR][1000 genomes]
rs1259311	0.94[CHB][hapmap];0.83[ASN][1000 genomes]
rs1259318	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs1259322	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1259329	0.94[CHB][hapmap]
rs1259331	0.89[CHB][hapmap]
rs1259332	0.89[CHB][hapmap]
rs1259333	0.93[JPT][hapmap]
rs1259334	0.94[CHB][hapmap];0.81[ASN][1000 genomes]
rs1259335	0.92[JPT][hapmap]
rs1259336	0.94[CHB][hapmap];0.81[ASN][1000 genomes]
rs1259337	0.94[CHB][hapmap];0.82[ASN][1000 genomes]
rs1259338	0.94[CHB][hapmap];0.81[ASN][1000 genomes]
rs1259339	1.00[CHB][hapmap];0.92[JPT][hapmap];0.90[ASN][1000 genomes]
rs1259342	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs1259457	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1267675	0.94[CHB][hapmap];0.81[ASN][1000 genomes]
rs1267693	0.85[AFR][1000 genomes]
rs1270209	0.83[CHB][hapmap];0.85[ASN][1000 genomes]
rs1520881	0.89[CHB][hapmap]
rs1716835	0.94[CHB][hapmap]
rs1733296	0.83[CHB][hapmap]
rs1733304	0.89[CHB][hapmap]
rs1733306	0.89[CHB][hapmap]
rs1733319	0.94[CHB][hapmap];0.82[ASN][1000 genomes]
rs1982186	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2700263	0.90[ASN][1000 genomes]
rs2702155	0.83[CHB][hapmap]
rs874477	0.89[CHB][hapmap];0.83[JPT][hapmap]
rs874479	0.89[CHB][hapmap]
rs874480	0.81[ASN][1000 genomes]
rs9631455	0.94[CHB][hapmap];0.81[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	nsv1007557	chr3:119892894-120764353	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv536706	chr3:119892894-120764353	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv1012127	chr3:120015620-120272893	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv536707	chr3:120015620-120272893	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv1006428	chr3:120015620-120421982	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	esv3369381	chr3:120066425-120425510	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	esv3350409	chr3:120066445-120425480	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120186000-120195000	Enhancers	Placenta Amnion	Placenta Amnion
2	chr3:120186600-120193800	Enhancers	NHDF-Ad	bronchial
3	chr3:120186600-120195000	Enhancers	Placenta	Placenta
4	chr3:120187400-120191400	Enhancers	HMEC	breast
5	chr3:120187400-120193200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr3:120187400-120193800	Enhancers	HSMM	muscle
7	chr3:120187800-120191400	Enhancers	NH-A	brain
8	chr3:120187800-120193600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr3:120187800-120193800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr3:120188400-120192000	Enhancers	NHLF	lung
11	chr3:120189200-120191400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr3:120189200-120194000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr3:120189200-120194600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr3:120189200-120194800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr3:120189400-120191800	Enhancers	HSMMtube	muscle
16	chr3:120190000-120191800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr3:120190000-120192200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr3:120190000-120193400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr3:120190000-120196200	Weak transcription	Left Ventricle	heart
20	chr3:120190200-120193200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr3:120190200-120194600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr3:120190400-120192400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr3:120190600-120194000	Enhancers	Osteobl	bone
24	chr3:120190800-120191400	Enhancers	Hela-S3	cervix
25	chr3:120190800-120191800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr3:120190800-120193000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr3:120190800-120194000	Weak transcription	Stomach Smooth Muscle	stomach
28	chr3:120191000-120191800	Enhancers	Muscle Satellite Cultured Cells	--
29	chr3:120191000-120192800	Weak transcription	Colon Smooth Muscle	Colon
30	chr3:120191200-120192200	Weak transcription	Fetal Heart	heart
31	chr3:120191200-120192400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr3:120191200-120194600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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