Variant report

Variant	rs12128592
Chromosome Location	chr1:113749926-113749927
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:113747477..113750809-chr1:113931582..113934825,6	MCF-7	breast:
2	chr1:113737275..113741073-chr1:113748571..113751265,3	MCF-7	breast:
3	chr1:113748482..113750520-chr1:113931464..113934398,3	MCF-7	breast:
4	chr1:113747827..113751030-chr1:113754652..113756570,3	K562	blood:
5	chr1:113749316..113750880-chr1:113751390..113752895,2	MCF-7	breast:
6	chr1:113749063..113750761-chr1:113929423..113931147,2	MCF-7	breast:
7	chr1:113742202..113745553-chr1:113748111..113752057,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000081026	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10442680	0.83[EUR][1000 genomes]
rs10494153	0.83[EUR][1000 genomes]
rs12125283	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12131406	0.82[EUR][1000 genomes]
rs12133159	0.82[EUR][1000 genomes]
rs12140812	0.83[EUR][1000 genomes]
rs12142981	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1216899	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1324893	0.83[EUR][1000 genomes]
rs1626471	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17497065	0.83[EUR][1000 genomes]
rs1853732	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1853734	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2147597	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2788253	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2788255	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28570193	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35822819	0.82[EUR][1000 genomes]
rs7556534	0.82[EUR][1000 genomes]
rs946220	0.83[EUR][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	nsv1012119	chr1:113214869-113759081	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
2	nsv535060	chr1:113214869-113759081	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	nsv529238	chr1:113229946-113759080	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
4	esv18293	chr1:113375437-113852815	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
5	nsv1007045	chr1:113425222-113839910	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
6	nsv427719	chr1:113570229-114078388	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	nsv2465	chr1:113731589-113776605	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113741800-113752200	Weak transcription	Lung	lung
2	chr1:113743400-113751800	Weak transcription	Pancreas	Pancrea
3	chr1:113745200-113753600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr1:113745400-113754200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr1:113747600-113750600	Enhancers	Fetal Kidney	kidney
6	chr1:113748400-113754800	Enhancers	Fetal Intestine Large	intestine
7	chr1:113748600-113750000	Enhancers	Fetal Intestine Small	intestine
8	chr1:113748600-113751200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:113748600-113751200	Enhancers	Placenta	Placenta
10	chr1:113748600-113752600	Enhancers	K562	blood
11	chr1:113748800-113752400	Enhancers	Stomach Mucosa	stomach
12	chr1:113749200-113750200	Enhancers	Gastric	stomach
13	chr1:113749600-113750000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:113749600-113751800	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr1:113749800-113750200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:113749800-113750800	Enhancers	Sigmoid Colon	Sigmoid Colon

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