Variant report

Variant	rs238658
Chromosome Location	chr20:23495872-23495873
allele	C/T
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	E2F6	chr20:23495668-23496222	H1-hESC	embryonic stem cell:	n/a	n/a
2	E2F6	chr20:23495839-23496128	H1-hESC	embryonic stem cell:	n/a	n/a
3	USF1	chr20:23495789-23496075	H1-hESC	embryonic stem cell:	n/a	chr20:23495940-23495949 chr20:23495941-23495950 chr20:23495941-23495950
4	MAX	chr20:23495752-23496255	H1-hESC	embryonic stem cell:	n/a	chr20:23495939-23495952 chr20:23495951-23495960 chr20:23495940-23495950 chr20:23495940-23495951 chr20:23495941-23495950 chr20:23495940-23495951
5	MAX	chr20:23495773-23496140	H1-hESC	embryonic stem cell:	n/a	chr20:23495939-23495952 chr20:23495951-23495960 chr20:23495940-23495950 chr20:23495940-23495951 chr20:23495941-23495950 chr20:23495940-23495951

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:23495614..23498073-chr20:23499354..23501428,2	MCF-7	breast:
2	chr20:23494582..23497425-chr20:23497787..23500282,2	MCF-7	breast:

Variant related genes	Relation type
CST13P	TF binding region
ENSG00000204663	Chromatin interaction
ENSG00000260202	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1155363	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs171157	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2208281	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs238641	0.93[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs238642	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs238645	1.00[EUR][1000 genomes]
rs238646	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs238647	0.91[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs238648	1.00[EUR][1000 genomes]
rs238649	1.00[EUR][1000 genomes]
rs238650	0.92[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs238651	1.00[EUR][1000 genomes]
rs238652	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs238654	1.00[EUR][1000 genomes]
rs238655	1.00[EUR][1000 genomes]
rs238656	0.93[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs238657	1.00[EUR][1000 genomes]
rs238659	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs238660	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs238661	1.00[EUR][1000 genomes]
rs238663	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs238664	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs238665	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs238666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs238667	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs238669	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs238670	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs238671	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2983601	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2983606	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2983612	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2983643	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3004124	0.93[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3004129	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3004130	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3004131	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3004133	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59710211	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8113899	1.00[EUR][1000 genomes]

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	nsv912818	chr20:23406519-23567838	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv912819	chr20:23406519-23569400	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv912820	chr20:23406519-23578148	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1065390	chr20:23412890-23569238	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv1065719	chr20:23415029-23565333	Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv544214	chr20:23415029-23565333	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv470544	chr20:23424638-23569400	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv585722	chr20:23424638-23569400	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv458949	chr20:23426648-23569400	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
10	nsv585723	chr20:23426648-23569400	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
11	nsv1057992	chr20:23430887-23565333	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
12	nsv544215	chr20:23430887-23565333	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
13	nsv491876	chr20:23436633-24031374	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23493600-23500400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr20:23493800-23496800	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr20:23494600-23496000	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr20:23494600-23496000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr20:23495200-23496400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr20:23495400-23496000	Enhancers	H1 Cell Line	embryonic stem cell
7	chr20:23495400-23496000	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr20:23495600-23496000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr20:23495600-23496000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr20:23495600-23496000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr20:23495600-23496200	Enhancers	Placenta Amnion	Placenta Amnion
12	chr20:23495600-23496200	Enhancers	A549	lung
13	chr20:23495600-23496200	Flanking Active TSS	GM12878-XiMat	blood
14	chr20:23495600-23496800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr20:23495600-23496800	Enhancers	Fetal Kidney	kidney
16	chr20:23495800-23496200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr20:23495800-23501600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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