Variant report

Variant	rs59161450
Chromosome Location	chr1:152160923-152160924
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA2	chr1:152160920-152161582	A549	lung:	n/a	n/a
2	CTCF	chr1:152160886-152161743	SK-N-SH	brain:	n/a	chr1:152161238-152161256 chr1:152161241-152161254 chr1:152161243-152161253 chr1:152161239-152161255 chr1:152161240-152161261 chr1:152161241-152161254 chr1:152161241-152161250
3	CTCF	chr1:152160805-152163458	A549	lung:	n/a	chr1:152161238-152161256 chr1:152161241-152161254 chr1:152161243-152161253 chr1:152161239-152161255 chr1:152161240-152161261 chr1:152161241-152161254 chr1:152162484-152162497 chr1:152161241-152161250 chr1:152162481-152162499 chr1:152162483-152162504 chr1:152162321-152162329 chr1:152162484-152162492

No.	Distal block	Cell Line	Cell type
1	chr1:152160487..152160988-chr1:152413455..152414286,2	MCF-7	breast:
2	chr1:152019527..152021275-chr1:152158923..152161325,2	MCF-7	breast:
3	chr1:152160624..152161417-chr1:152199475..152200038,4	MCF-7	breast:
4	chr1:152160815..152161721-chr1:152320660..152321540,3	MCF-7	breast:
5	chr1:152160802..152161752-chr1:152430569..152431282,4	MCF-7	breast:
6	chr1:152024690..152025212-chr1:152160729..152161691,2	MCF-7	breast:
7	chr1:152160785..152161519-chr1:152413069..152413968,2	K562	blood:
8	chr1:152023608..152024485-chr1:152160789..152161681,3	MCF-7	breast:

Variant related genes	Relation type
FLG-AS1	TF binding region
ENSG00000163191	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17359691	1.00[AMR][1000 genomes]
rs6587665	1.00[AMR][1000 genomes]
rs72995351	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs878649	1.00[AMR][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	nsv1007097	chr1:151832796-152227977	Strong transcription Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
2	nsv1012327	chr1:151835544-152200890	Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
3	nsv535159	chr1:151835544-152200890	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
4	nsv547853	chr1:152008671-152236760	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv872442	chr1:152054120-152187641	Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv1014095	chr1:152104486-152454591	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	nsv547854	chr1:152145661-152165878	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152152200-152161200	Weak transcription	Right Atrium	heart
2	chr1:152154400-152161400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:152156000-152161200	Weak transcription	A549	lung
4	chr1:152156000-152161200	Weak transcription	HSMM	muscle
5	chr1:152157800-152161200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr1:152158000-152161200	Weak transcription	NHDF-Ad	bronchial
7	chr1:152158200-152161000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:152158200-152161000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:152158200-152161400	Weak transcription	NH-A	brain
10	chr1:152158600-152161200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr1:152158800-152161200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr1:152159000-152161200	Weak transcription	Ovary	ovary
13	chr1:152159800-152161200	Weak transcription	Esophagus	oesophagus
14	chr1:152159800-152161200	Weak transcription	HMEC	breast
15	chr1:152159800-152161200	Weak transcription	Osteobl	bone
16	chr1:152160000-152161200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:152160200-152161000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:152160200-152161200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:152160200-152161200	Weak transcription	NHEK	skin
20	chr1:152160400-152161200	Weak transcription	Colon Smooth Muscle	Colon
21	chr1:152160600-152162000	Weak transcription	Hela-S3	cervix

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