Variant report

Variant	rs6719786
Chromosome Location	chr2:133955999-133956000
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	chr2:133426638..133429342-chr2:133954852..133957761,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000150551	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10194766	1.00[EUR][1000 genomes]
rs11889166	1.00[EUR][1000 genomes]
rs11895552	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11900115	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11903510	1.00[EUR][1000 genomes]
rs11903555	1.00[EUR][1000 genomes]
rs13388152	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16822540	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16822568	1.00[EUR][1000 genomes]
rs16822683	1.00[EUR][1000 genomes]
rs16822816	1.00[EUR][1000 genomes]
rs16823190	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16855557	1.00[EUR][1000 genomes]
rs16857190	1.00[EUR][1000 genomes]
rs16857197	1.00[EUR][1000 genomes]
rs16857260	1.00[EUR][1000 genomes]
rs16857605	1.00[EUR][1000 genomes]
rs16858020	1.00[EUR][1000 genomes]
rs1836220	1.00[EUR][1000 genomes]
rs2069257	1.00[EUR][1000 genomes]
rs56836351	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59838856	1.00[EUR][1000 genomes]
rs6430393	1.00[EUR][1000 genomes]
rs6718899	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6732204	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs6733114	0.86[YRI][hapmap];0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6750477	1.00[ASW][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6761371	1.00[EUR][1000 genomes]
rs72987685	1.00[EUR][1000 genomes]
rs72989616	1.00[EUR][1000 genomes]
rs73957082	1.00[EUR][1000 genomes]
rs73957084	1.00[EUR][1000 genomes]
rs7563261	1.00[EUR][1000 genomes]
rs7568126	1.00[EUR][1000 genomes]
rs7568144	1.00[EUR][1000 genomes]
rs7568818	1.00[EUR][1000 genomes]
rs7572178	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7576431	1.00[EUR][1000 genomes]
rs7578857	1.00[EUR][1000 genomes]
rs7579940	1.00[EUR][1000 genomes]
rs7584749	1.00[EUR][1000 genomes]
rs7585734	1.00[EUR][1000 genomes]
rs7608610	1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949629	chr2:133830379-134014961	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv1001601	chr2:133838626-134005959	Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv948851	chr2:133864452-133955999	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv583167	chr2:133864452-133957689	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv997821	chr2:133868822-134360220	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv535927	chr2:133868822-134360220	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers 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	24 gene(s)	inside rSNPs	diseases
7	nsv1002488	chr2:133890159-134275312	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
8	nsv535928	chr2:133890159-134275312	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv1011100	chr2:133900062-134046163	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	esv3375790	chr2:133906915-134222833	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
11	nsv1005405	chr2:133930876-134055434	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	nsv535929	chr2:133930876-134055434	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
13	esv3384138	chr2:133938269-133971462	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:133952000-133956400	Weak transcription	NHLF	lung
2	chr2:133952200-133956600	Weak transcription	NHDF-Ad	bronchial
3	chr2:133952200-133957000	Weak transcription	HUVEC	blood vessel
4	chr2:133954400-133959000	Enhancers	Liver	Liver
5	chr2:133954600-133964400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:133955000-133956000	Weak transcription	A549	lung
7	chr2:133955000-133957400	Weak transcription	Hela-S3	cervix
8	chr2:133955000-133958000	Weak transcription	NHEK	skin
9	chr2:133955000-133958400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:133955000-133972200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:133955200-133958200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:133955200-133958200	Weak transcription	HMEC	breast
13	chr2:133955800-133956400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:133955800-133956400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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