Variant report

Variant	rs3025967
Chromosome Location	chr7:103271121-103271122
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	MAFF	chr7:103270824-103271182	K562	blood:	n/a	n/a
2	CREB1	chr7:103270715-103271314	K562	blood:	n/a	n/a
3	ATF1	chr7:103270803-103271170	K562	blood:	n/a	n/a
4	ELF1	chr7:103270783-103271162	K562	blood:	n/a	chr7:103270953-103270964 chr7:103270951-103270964
5	SPI1	chr7:103270736-103271161	HL-60	blood:	n/a	chr7:103270951-103270964 chr7:103270952-103270965 chr7:103271036-103271049 chr7:103270953-103270962
6	MAFK	chr7:103270797-103271138	K562	blood:	n/a	chr7:103270996-103271006 chr7:103270948-103270963
7	TEAD4	chr7:103270652-103271236	K562	blood:	n/a	n/a
8	JUND	chr7:103270773-103271222	K562	blood:	n/a	n/a
9	JUN	chr7:103270719-103271497	K562	blood:	n/a	n/a
10	JUN	chr7:103270823-103271152	K562	blood:	n/a	n/a
11	CREB1	chr7:103270739-103271155	K562	blood:	n/a	n/a
12	JUN	chr7:103270784-103271164	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:103270998..103273560-chr7:103345066..103347137,2	K562	blood:

Variant related genes	Relation type
RELN	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10261317	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10487161	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1122672	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12668066	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12671936	0.83[ASN][1000 genomes]
rs12674323	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13238300	0.82[ASN][1000 genomes]
rs17154114	0.81[ASN][1000 genomes]
rs2058380	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2109698	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2191707	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2215537	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34147889	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34568163	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs362630	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs362643	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs362645	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs362659	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs362674	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs362682	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs362689	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs362691	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57439348	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58317364	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59244914	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs82879	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs977638	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs977639	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][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	nsv491911	chr7:102967150-103403622	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv831085	chr7:103140672-103342388	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv427799	chr7:103250733-103454202	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv1835816	chr7:103255144-103354223	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103268000-103272600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr7:103268400-103273600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:103270000-103271200	Strong transcription	HepG2	liver
4	chr7:103270600-103271200	Enhancers	Muscle Satellite Cultured Cells	--
5	chr7:103270800-103271200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr7:103270800-103271200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:103270800-103271200	Enhancers	NH-A	brain
8	chr7:103270800-103271200	Enhancers	NHDF-Ad	bronchial
9	chr7:103270800-103271200	Enhancers	NHLF	lung
10	chr7:103270800-103271400	Genic enhancers	K562	blood
11	chr7:103271000-103271200	Enhancers	HMEC	breast
12	chr7:103271000-103272600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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