Variant report

Variant	rs35751737
Chromosome Location	chr12:20701621-20701622
allele	G/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	CTCF	chr12:20700655-20703062	A549	lung:	n/a	chr12:20702239-20702252 chr12:20702242-20702250 chr12:20702238-20702254 chr12:20702237-20702255
2	GATA3	chr12:20701130-20702443	SK-N-SH	brain:	n/a	chr12:20701767-20701774 chr12:20701763-20701779 chr12:20701767-20701774 chr12:20701763-20701779 chr12:20701706-20701715 chr12:20701766-20701776 chr12:20701767-20701776 chr12:20701407-20701423 chr12:20701760-20701781 chr12:20701767-20701774
3	EP300	chr12:20701511-20701899	SK-N-SH_RA	brain:	n/a	chr12:20701671-20701685 chr12:20701793-20701807
4	GATA3	chr12:20701293-20702385	SH-SY5Y	brain:	n/a	chr12:20701767-20701774 chr12:20701763-20701779 chr12:20701767-20701774 chr12:20701763-20701779 chr12:20701706-20701715 chr12:20701766-20701776 chr12:20701767-20701776 chr12:20701407-20701423 chr12:20701760-20701781 chr12:20701767-20701774
5	GATA3	chr12:20701391-20702532	SK-N-SH	brain:	n/a	chr12:20701767-20701774 chr12:20701763-20701779 chr12:20701767-20701774 chr12:20701763-20701779 chr12:20701706-20701715 chr12:20701766-20701776 chr12:20701767-20701776 chr12:20701407-20701423 chr12:20701760-20701781 chr12:20701767-20701774
6	RAD21	chr12:20701082-20702638	SK-N-SH	brain:	n/a	chr12:20702239-20702253 chr12:20702245-20702252
7	POLR2A	chr12:20701550-20701752	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
ENSG00000256663	TF binding region

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

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

rs_ID	r²[population]
rs10047560	1.00[ASN][1000 genomes]
rs10743375	1.00[ASN][1000 genomes]
rs10743376	1.00[ASN][1000 genomes]
rs12314380	1.00[ASN][1000 genomes]
rs12809512	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12822543	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34047692	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35521901	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57181023	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57609359	1.00[ASN][1000 genomes]
rs59656175	1.00[ASN][1000 genomes]
rs60526859	1.00[ASN][1000 genomes]
rs61338273	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61553836	1.00[ASN][1000 genomes]
rs61596305	1.00[ASN][1000 genomes]
rs7137427	1.00[ASN][1000 genomes]
rs7304649	1.00[ASN][1000 genomes]
rs7312861	1.00[ASN][1000 genomes]
rs7313578	1.00[ASN][1000 genomes]
rs7973420	1.00[ASN][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	nsv1048067	chr12:20363755-20874845	Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv541408	chr12:20363755-20874845	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1046870	chr12:20509914-20711535	Active TSS Genic enhancers Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
4	nsv541409	chr12:20509914-20711535	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
5	nsv1043890	chr12:20659151-21309993	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv541410	chr12:20659151-21309993	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1054997	chr12:20682009-21292602	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20673800-20704200	Weak transcription	Fetal Intestine Large	intestine
2	chr12:20688600-20704200	Weak transcription	Hela-S3	cervix
3	chr12:20692600-20704200	Weak transcription	Fetal Kidney	kidney
4	chr12:20692600-20704200	Weak transcription	Right Ventricle	heart
5	chr12:20694400-20704200	Weak transcription	Left Ventricle	heart
6	chr12:20699000-20702600	Enhancers	Osteobl	bone
7	chr12:20699400-20702200	Enhancers	Muscle Satellite Cultured Cells	--
8	chr12:20699600-20704200	Weak transcription	Aorta	Aorta
9	chr12:20700200-20704200	Weak transcription	Right Atrium	heart
10	chr12:20700400-20701800	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr12:20700400-20704200	Weak transcription	Fetal Intestine Small	intestine
12	chr12:20700600-20702000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr12:20700600-20702200	Enhancers	HUVEC	blood vessel
14	chr12:20700600-20704200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr12:20700800-20701800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:20700800-20704200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr12:20701000-20702200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:20701000-20702200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:20701200-20701800	Enhancers	Adipose Nuclei	Adipose
20	chr12:20701200-20701800	Enhancers	Colon Smooth Muscle	Colon
21	chr12:20701200-20702000	Enhancers	Brain Substantia Nigra	brain
22	chr12:20701200-20702200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:20701200-20702400	Enhancers	Fetal Brain Male	brain
24	chr12:20701200-20704200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr12:20701400-20702000	Enhancers	Rectal Smooth Muscle	rectum
26	chr12:20701400-20704200	Weak transcription	Fetal Brain Female	brain
27	chr12:20701600-20701800	Enhancers	Brain Hippocampus Middle	brain
28	chr12:20701600-20702000	Enhancers	NHDF-Ad	bronchial
29	chr12:20701600-20702200	Flanking Active TSS	A549	lung
30	chr12:20701600-20702600	Enhancers	Fetal Lung	lung

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