Variant report

Variant	rs7807335
Chromosome Location	chr7:50631862-50631863
allele	A/C
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	MXI1	chr7:50631638-50633619	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
DDC	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10249420	0.95[CEU][hapmap];0.94[GIH][hapmap];0.94[TSI][hapmap];0.90[EUR][1000 genomes]
rs10265930	0.95[CEU][hapmap];0.95[EUR][1000 genomes]
rs10271341	0.81[GIH][hapmap]
rs10276473	0.84[GIH][hapmap];0.85[TSI][hapmap]
rs10899748	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11238214	0.90[JPT][hapmap]
rs11489734	0.90[JPT][hapmap]
rs11575320	0.84[GIH][hapmap]
rs11976778	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12666409	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12671598	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12673638	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1470747	0.93[CEU][hapmap];0.94[EUR][1000 genomes]
rs2329346	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2329371	0.84[GIH][hapmap];0.85[TSI][hapmap]
rs28415418	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3779078	0.84[GIH][hapmap]
rs3807556	0.84[GIH][hapmap]
rs3807558	0.81[GIH][hapmap]
rs56105337	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56661863	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66792686	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs68011952	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7779110	0.92[EUR][1000 genomes]
rs7790919	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7803440	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs7803788	0.95[CEU][hapmap];0.94[GIH][hapmap];0.94[TSI][hapmap];0.92[EUR][1000 genomes]
rs7803903	0.92[EUR][1000 genomes]
rs978784	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.88[TSI][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1015758	chr7:50565404-50768153	Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1023228	chr7:50573214-50777634	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1032882	chr7:50611138-50775257	Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv538834	chr7:50611138-50775257	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7807335	FIGNL1	cis	lung	GTEx
rs7807335	FIGNL1	cis	cerebellum	SCAN
rs7807335	FIGNL1	cis	parietal	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50620800-50635600	Weak transcription	Lung	lung
2	chr7:50626800-50632000	Weak transcription	Stomach Mucosa	stomach
3	chr7:50628600-50632000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr7:50629200-50632800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr7:50630800-50633200	Active TSS	Duodenum Mucosa	Duodenum
6	chr7:50630800-50633200	Active TSS	Fetal Intestine Small	intestine
7	chr7:50631000-50633400	Active TSS	Fetal Intestine Large	intestine
8	chr7:50631600-50633200	Flanking Active TSS	Liver	Liver
9	chr7:50631800-50632200	Flanking Active TSS	Pancreas	Pancrea
10	chr7:50631800-50632200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
11	chr7:50631800-50633000	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr7:50631800-50633000	Active TSS	Rectal Smooth Muscle	rectum
13	chr7:50631800-50633200	Active TSS	Fetal Kidney	kidney
14	chr7:50631800-50633400	Active TSS	Colonic Mucosa	Colon
15	chr7:50631800-50633400	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr7:50631800-50633800	Enhancers	Adipose Nuclei	Adipose
17	chr7:50631800-50633800	Flanking Active TSS	HepG2	liver

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