Variant report

Variant	rs12656744
Chromosome Location	chr5:107721069-107721070
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr5:107720793-107721164	GM12891	blood:	n/a	n/a
2	SPI1	chr5:107720844-107721126	GM12891	blood:	n/a	n/a
3	RFX5	chr5:107720940-107721136	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr5:107716150-107721128	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr5:107720753-107721453	GM12878	blood:	n/a	n/a
6	RFX5	chr5:107720802-107721176	HepG2	liver:	n/a	n/a
7	POLR2A	chr5:107715567-107721797	GM12891	blood:	n/a	n/a
8	POLR2A	chr5:107716891-107721217	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr5:107716862-107721767	K562	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:107720815..107723363-chr5:107732371..107733940,2	MCF-7	breast:
2	chr5:107703047..107709148-chr5:107715421..107721287,10	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FER-2	chr5:107717801-107724211	NONHSAT103120

No data

Variant related genes	Relation type
FBXL17	TF binding region
ENSG00000145743	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10045508	0.83[ASN][1000 genomes]
rs10078397	0.80[ASN][1000 genomes]
rs10515386	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11747049	0.80[ASN][1000 genomes]
rs12163950	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12652018	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12654121	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12654703	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12656256	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12656817	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12657054	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12658221	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12659121	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12659135	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1422148	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17161236	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17161254	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17161284	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17161304	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17161316	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1965392	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2063422	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2122159	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2910790	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2966787	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2966791	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2966801	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4413518	0.80[ASN][1000 genomes]
rs4423983	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4463170	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4593253	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4957754	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55875758	0.89[EUR][1000 genomes]
rs57067664	0.89[EUR][1000 genomes]
rs57732790	0.80[ASN][1000 genomes]
rs60493671	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72503488	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73781360	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73781369	0.89[EUR][1000 genomes]

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	nsv882683	chr5:107476501-107769095	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv882686	chr5:107564746-107769095	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv882689	chr5:107595383-108299744	Enhancers ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh 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	61 gene(s)	inside rSNPs	diseases
4	esv2755544	chr5:107614101-107748101	Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 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	chr5:107718800-107731200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:107719000-107722000	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr5:107719000-107722200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:107719000-107722200	Weak transcription	NHDF-Ad	bronchial
5	chr5:107719000-107722200	Weak transcription	Osteobl	bone
6	chr5:107719000-107723800	Weak transcription	Fetal Brain Female	brain
7	chr5:107719200-107721200	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr5:107719200-107722800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr5:107719400-107721200	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr5:107719400-107721800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:107719400-107723400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr5:107719800-107721200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr5:107719800-107721600	Weak transcription	HepG2	liver
14	chr5:107721000-107721200	Enhancers	Primary hematopoietic stem cells	blood
15	chr5:107721000-107721200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr5:107721000-107722200	Weak transcription	HSMM	muscle

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