Variant report

Variant	rs12721497
Chromosome Location	chr3:45943130-45943131
allele	A/G
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	PML	chr3:45941073-45943145	GM12878	blood:	n/a	n/a
2	POLR2A	chr3:45942813-45943137	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:45931810..45934147-chr3:45942830..45944362,2	K562	blood:

Variant related genes	Relation type
ENSG00000201635	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17078401	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2191032	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs9856760	1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer 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	42 gene(s)	inside rSNPs	diseases
2	nsv498008	chr3:45733423-46319401	Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv834678	chr3:45804294-46010256	Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers 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	11 gene(s)	inside rSNPs	diseases
4	nsv876736	chr3:45900621-46027410	Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:45923400-45948200	Weak transcription	Right Atrium	heart
2	chr3:45925200-45949600	Weak transcription	Pancreas	Pancrea
3	chr3:45925600-45947800	Genic enhancers	Dnd41	blood
4	chr3:45932400-45960200	Weak transcription	Fetal Intestine Small	intestine
5	chr3:45934000-45960200	Weak transcription	Right Ventricle	heart
6	chr3:45934600-45946200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr3:45935400-45945000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr3:45936000-45947600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr3:45936600-45945800	Weak transcription	Primary B cells from cord blood	blood
10	chr3:45936600-45950200	Genic enhancers	Fetal Thymus	thymus
11	chr3:45936800-45946200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr3:45938600-45949000	Weak transcription	Small Intestine	intestine
13	chr3:45939200-45948200	Weak transcription	Fetal Stomach	stomach
14	chr3:45940000-45959800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr3:45941200-45952400	Weak transcription	Psoas Muscle	Psoas
16	chr3:45941400-45960000	Weak transcription	Adipose Nuclei	Adipose
17	chr3:45941600-45946000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr3:45941800-45943200	Strong transcription	Thymus	Thymus
19	chr3:45942600-45945400	Strong transcription	Primary T cells from cord blood	blood
20	chr3:45942800-45945200	Weak transcription	Aorta	Aorta
21	chr3:45943000-45943200	ZNF genes & repeats	Stomach Smooth Muscle	stomach
22	chr3:45943000-45961000	Weak transcription	Brain Substantia Nigra	brain

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