Variant report

Variant	rs917807
Chromosome Location	chr7:150521657-150521658
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	CTCFL	chr7:150521480-150521695	K562	blood:	n/a	n/a
2	CBX3	chr7:150521232-150521896	K562	blood:	n/a	n/a
3	CTCF	chr7:150521430-150521755	K562	blood:	n/a	chr7:150521582-150521598 chr7:150521583-150521604
4	SP2	chr7:150521472-150521846	K562	blood:	n/a	chr7:150521613-150521628 chr7:150521666-150521689
5	NFYB	chr7:150521501-150521860	K562	blood:	n/a	n/a
6	HCFC1	chr7:150521453-150521830	K562	blood:	n/a	n/a
7	EP300	chr7:150521564-150521706	K562	blood:	n/a	n/a
8	CBX3	chr7:150521350-150521935	K562	blood:	n/a	n/a
9	CTCF	chr7:150521463-150521686	K562	blood:	n/a	chr7:150521582-150521598 chr7:150521583-150521604
10	SP1	chr7:150521396-150521807	H1-hESC	embryonic stem cell:	n/a	chr7:150521619-150521628 chr7:150521617-150521629 chr7:150521618-150521627 chr7:150521614-150521628 chr7:150521617-150521629
11	SETDB1	chr7:150521415-150522096	K562	blood:	n/a	n/a
12	CTCF	chr7:150521329-150521781	K562	blood:	n/a	chr7:150521582-150521598 chr7:150521583-150521604
13	CHD2	chr7:150521474-150521823	K562	blood:	n/a	n/a
14	MAX	chr7:150521468-150521704	K562	blood:	n/a	n/a
15	SP2	chr7:150521499-150521836	K562	blood:	n/a	chr7:150521613-150521628 chr7:150521666-150521689
16	TEAD4	chr7:150520260-150521826	K562	blood:	n/a	n/a
17	MAX	chr7:150521451-150521757	K562	blood:	n/a	n/a
18	MAX	chr7:150521287-150521829	K562	blood:	n/a	n/a
19	PBX3	chr7:150521409-150521831	SK-N-SH	brain:	n/a	n/a
20	NFYA	chr7:150521012-150521896	K562	blood:	n/a	n/a
21	PBX3	chr7:150521532-150521837	SK-N-SH	brain:	n/a	n/a
22	TBP	chr7:150521421-150521739	K562	blood:	n/a	n/a
23	SP1	chr7:150521431-150521867	A549	lung:	n/a	chr7:150521619-150521628 chr7:150521617-150521629 chr7:150521618-150521627 chr7:150521614-150521628 chr7:150521617-150521629
24	CTCF	chr7:150521488-150521746	K562	blood:	n/a	chr7:150521582-150521598 chr7:150521583-150521604
25	RCOR1	chr7:150521483-150521683	K562	blood:	n/a	n/a
26	CTCFL	chr7:150521438-150521707	K562	blood:	n/a	n/a
27	JUND	chr7:150521455-150521765	K562	blood:	n/a	chr7:150521617-150521626
28	RAD21	chr7:150521439-150521669	K562	blood:	n/a	chr7:150521582-150521601
29	MAFF	chr7:150521482-150521672	K562	blood:	n/a	n/a
30	CTCF	chr7:150521523-150521687	Gliobla	brain:	n/a	chr7:150521582-150521598 chr7:150521583-150521604
31	E2F6	chr7:150521483-150521734	K562	blood:	n/a	chr7:150521618-150521627
32	FOS	chr7:150521493-150521835	K562	blood:	n/a	chr7:150521617-150521626
33	MYC	chr7:150521419-150521748	K562	blood:	n/a	n/a
34	YY1	chr7:150521615-150521745	K562	blood:	n/a	n/a
35	YY1	chr7:150521458-150522034	K562	blood:	n/a	n/a
36	YY1	chr7:150521495-150521977	K562	blood:	n/a	n/a
37	MAZ	chr7:150521464-150521744	K562	blood:	n/a	n/a
38	PBX3	chr7:150521541-150521759	GM12878	blood:	n/a	n/a
39	CHD2	chr7:150521521-150521755	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr7:150521540-150521690	K562	blood:	n/a	chr7:150521582-150521598 chr7:150521583-150521604
41	PBX3	chr7:150521477-150521843	A549	lung:	n/a	n/a

Variant related genes	Relation type
AOC1	TF binding region

Extended variants
information (count: 53 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1005389	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs1005390	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs10264084	1.00[JPT][hapmap]
rs10269643	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10273373	0.85[CEU][hapmap]
rs10452847	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11760854	1.00[JPT][hapmap]
rs11762854	1.00[JPT][hapmap]
rs11763311	1.00[JPT][hapmap]
rs11768123	1.00[JPT][hapmap]
rs11771771	1.00[JPT][hapmap]
rs12670489	1.00[JPT][hapmap]
rs12672953	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12703104	0.87[EUR][1000 genomes]
rs17173650	1.00[JPT][hapmap]
rs17173651	1.00[JPT][hapmap]
rs17173652	1.00[JPT][hapmap]
rs17258890	1.00[JPT][hapmap]
rs2052129	0.85[CEU][hapmap]
rs2192051	0.82[ASN][1000 genomes]
rs2215562	1.00[JPT][hapmap]
rs2215563	1.00[JPT][hapmap]
rs2215564	1.00[JPT][hapmap]
rs2888686	1.00[JPT][hapmap]
rs4266560	1.00[JPT][hapmap]
rs4618613	1.00[JPT][hapmap]
rs4725366	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4725372	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4725949	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4725955	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4725956	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4725958	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4725960	0.87[EUR][1000 genomes]
rs6950447	0.87[EUR][1000 genomes]
rs6951585	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73165541	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs732416	1.00[JPT][hapmap]
rs741063	1.00[JPT][hapmap]
rs758888	1.00[JPT][hapmap]
rs758894	1.00[JPT][hapmap]
rs758895	1.00[JPT][hapmap]
rs7781870	1.00[JPT][hapmap]
rs7788808	0.87[EUR][1000 genomes]
rs7789908	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7793572	0.93[EUR][1000 genomes]
rs917806	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs917808	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9918664	1.00[JPT][hapmap]

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	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv1030109	chr7:150312916-150701010	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv967475	chr7:150323577-150610034	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs917807	C1orf115	trans	lymphoblastoid	seeQTL
rs917807	GIMAP5	cis	cerebellum	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150503400-150528000	Weak transcription	Ovary	ovary
2	chr7:150512000-150522800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr7:150518200-150522000	Weak transcription	Fetal Stomach	stomach
4	chr7:150518400-150523200	Weak transcription	Right Atrium	heart
5	chr7:150518600-150522400	Weak transcription	Fetal Intestine Small	intestine
6	chr7:150519800-150523400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr7:150519800-150525200	Enhancers	Fetal Heart	heart
8	chr7:150520200-150523600	Enhancers	Placenta	Placenta
9	chr7:150520800-150521800	Enhancers	K562	blood
10	chr7:150520800-150522000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr7:150520800-150522800	Enhancers	Liver	Liver
12	chr7:150521200-150522400	Weak transcription	Duodenum Mucosa	Duodenum
13	chr7:150521400-150521800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr7:150521600-150522400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links