Variant report

Variant	rs1163544
Chromosome Location	chr1:120339494-120339495
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	chr1:120336862..120340464-chr1:120344663..120347846,4	MCF-7	breast:
2	chr1:120329924..120336261-chr1:120336777..120341772,6	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1163542	0.99[EUR][1000 genomes]
rs1163543	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1163550	0.99[EUR][1000 genomes]
rs1177389	0.99[EUR][1000 genomes]
rs12132674	0.94[EUR][1000 genomes]
rs1814447	0.97[EUR][1000 genomes]
rs2282402	0.94[ASN][1000 genomes]
rs2582779	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2582780	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2582782	0.99[EUR][1000 genomes]
rs2582785	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2582786	0.97[EUR][1000 genomes]
rs2582790	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2843014	0.99[EUR][1000 genomes]
rs2843015	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2843016	0.97[EUR][1000 genomes]
rs2843017	0.97[EUR][1000 genomes]
rs72695189	0.95[EUR][1000 genomes]
rs753425	0.96[EUR][1000 genomes]
rs930448	0.97[EUR][1000 genomes]
rs935060	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs978730	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1000939	chr1:119983342-120471049	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv831215	chr1:120266449-120448469	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv428201	chr1:120267313-120697156	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	esv2757750	chr1:120267313-121226013	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	esv2758965	chr1:120267313-121226013	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv915933	chr1:120323527-120471049	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv831226	chr1:120331599-120471049	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120332800-120341600	Enhancers	Fetal Stomach	stomach
2	chr1:120336000-120340200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:120336000-120341600	Weak transcription	Primary T cells from cord blood	blood
4	chr1:120336000-120349400	Weak transcription	Right Atrium	heart
5	chr1:120336200-120339600	Enhancers	Colon Smooth Muscle	Colon
6	chr1:120336400-120342200	Weak transcription	Spleen	Spleen
7	chr1:120337000-120340000	Enhancers	Fetal Lung	lung
8	chr1:120337200-120339600	Enhancers	Rectal Smooth Muscle	rectum
9	chr1:120337200-120340000	Enhancers	Fetal Intestine Small	intestine
10	chr1:120337800-120339600	Enhancers	Placenta	Placenta
11	chr1:120338000-120340200	Enhancers	Stomach Smooth Muscle	stomach
12	chr1:120338800-120339800	Weak transcription	Esophagus	oesophagus
13	chr1:120338800-120342000	Weak transcription	Fetal Kidney	kidney
14	chr1:120339000-120339800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:120339200-120340800	Enhancers	Fetal Intestine Large	intestine
16	chr1:120339400-120340200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:120339400-120340200	Bivalent Enhancer	HepG2	liver
18	chr1:120339400-120340400	Enhancers	Pancreas	Pancrea

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