Variant report

Variant	rs2222648
Chromosome Location	chr7:48318811-48318812
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs1012371	1.00[CHD][hapmap]
rs10280046	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs10499676	1.00[ASN][1000 genomes]
rs13233225	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs13244649	1.00[ASN][1000 genomes]
rs1526096	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs1526097	1.00[ASN][1000 genomes]
rs1526100	1.00[ASN][1000 genomes]
rs1608951	1.00[ASN][1000 genomes]
rs17547830	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs17629765	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs1852266	1.00[ASN][1000 genomes]
rs1880736	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs1949895	1.00[ASN][1000 genomes]
rs2091345	1.00[ASN][1000 genomes]
rs2222649	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs35060898	1.00[ASN][1000 genomes]
rs35688896	1.00[ASN][1000 genomes]
rs4917043	1.00[ASN][1000 genomes]
rs60189113	1.00[ASN][1000 genomes]
rs6583546	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs6949467	1.00[ASN][1000 genomes]
rs6957283	1.00[ASN][1000 genomes]
rs73697124	0.81[AFR][1000 genomes]
rs7779867	1.00[ASN][1000 genomes]
rs7785405	1.00[ASN][1000 genomes]
rs7789281	1.00[ASN][1000 genomes]
rs7797546	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470221	chr7:47917495-48354363	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv464442	chr7:47917495-48354820	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv606893	chr7:47917495-48354820	Flanking Active TSS Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1027414	chr7:48117684-48438543	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1033738	chr7:48143988-48349357	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv817336	chr7:48238233-48563988	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1022980	chr7:48243227-48567060	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv538833	chr7:48243227-48567060	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1022578	chr7:48244414-48584664	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1023575	chr7:48244414-48586685	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv1015183	chr7:48244414-48588598	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv1032135	chr7:48293104-48414154	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv1032221	chr7:48302789-48546684	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv888005	chr7:48312674-48318811	Enhancers Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases
15	nsv533811	chr7:48313757-48482470	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2222648	NACAD	cis	cerebellum	SCAN
rs2222648	DDC	cis	cerebellum	SCAN
rs2222648	ZMIZ2	cis	parietal	SCAN
rs2222648	SNORA5C	cis	parietal	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:48314600-48319200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr7:48314600-48319400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr7:48314800-48319000	Weak transcription	HMEC	breast
4	chr7:48315600-48319800	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr7:48317200-48319200	Weak transcription	Thymus	Thymus
6	chr7:48317200-48319800	Weak transcription	Fetal Thymus	thymus
7	chr7:48317600-48319000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr7:48317600-48319000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr7:48318000-48319200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr7:48318200-48319000	Weak transcription	NHLF	lung
11	chr7:48318200-48320600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:48318400-48320400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:48318600-48319800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:48318800-48320600	Enhancers	NHEK	skin
15	chr7:48318800-48322000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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