Variant report

Variant	rs7666738
Chromosome Location	chr4:98968077-98968078
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr4:98967920-98968187	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr4:98967960-98968110	HEEpiC	esophagus:	n/a	n/a
3	CTCF	chr4:98967980-98968130	HMEC	breast:	n/a	n/a
4	RAD21	chr4:98967884-98968252	HCT-116	colon:	n/a	n/a
5	CTCF	chr4:98968020-98968170	BE2_C	brain:	n/a	n/a
6	CTCF	chr4:98967901-98968222	MCF-7	breast:	n/a	n/a
7	TCF12	chr4:98967967-98968162	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr4:98968020-98968170	HCT-116	colon:	n/a	n/a
9	CTCF	chr4:98967960-98968110	SAEC	small airway:	n/a	n/a
10	CTCF	chr4:98967934-98968112	MCF-7	breast:	n/a	n/a
11	RAD21	chr4:98967859-98968232	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr4:98967960-98968110	RPTEC	kidney:	n/a	n/a
13	CTCF	chr4:98967872-98968147	H1-hESC	embryonic stem cell:	n/a	n/a
14	RAD21	chr4:98967857-98968271	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr4:98967940-98968090	MCF-7	breast:	n/a	n/a
16	CTCF	chr4:98968057-98968097	LNCaP	prostate:	n/a	n/a
17	CEBPB	chr4:98967948-98968326	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr4:98968000-98968150	HRPEpiC	eye:	n/a	n/a
19	RAD21	chr4:98967895-98968240	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:98967509..98968412-chr4:99013843..99014513,4	MCF-7	breast:

No data

Variant related genes	Relation type
DUTP8	TF binding region

Extended variants
information (count: 243 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:227)

rs_ID	r²[population]
rs10000573	0.94[ASN][1000 genomes]
rs10004827	0.94[ASN][1000 genomes]
rs10005118	0.94[ASN][1000 genomes]
rs10005120	0.94[ASN][1000 genomes]
rs10007872	0.97[ASN][1000 genomes]
rs10009206	0.94[ASN][1000 genomes]
rs10012003	0.94[ASN][1000 genomes]
rs10012167	0.94[ASN][1000 genomes]
rs10012271	0.94[ASN][1000 genomes]
rs10017530	0.96[ASN][1000 genomes]
rs10018654	0.97[ASN][1000 genomes]
rs10021044	0.97[ASN][1000 genomes]
rs10025364	0.95[ASN][1000 genomes]
rs10025651	0.89[ASN][1000 genomes]
rs10029849	0.94[ASN][1000 genomes]
rs10031292	0.94[ASN][1000 genomes]
rs10033994	1.00[ASN][1000 genomes]
rs10034330	0.94[ASN][1000 genomes]
rs10034619	1.00[ASN][1000 genomes]
rs10049627	0.96[ASN][1000 genomes]
rs10050008	0.96[ASN][1000 genomes]
rs11097592	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11097614	0.95[CHB][hapmap];0.90[ASN][1000 genomes]
rs11097615	0.90[ASN][1000 genomes]
rs1111541	0.96[ASN][1000 genomes]
rs11721453	0.94[ASN][1000 genomes]
rs11726758	0.96[ASN][1000 genomes]
rs11727653	0.97[ASN][1000 genomes]
rs11729596	0.94[ASN][1000 genomes]
rs11729640	0.94[ASN][1000 genomes]
rs11735105	0.97[ASN][1000 genomes]
rs11932887	0.94[ASN][1000 genomes]
rs11932942	0.97[ASN][1000 genomes]
rs11941885	0.94[CHB][hapmap];0.92[JPT][hapmap];0.94[ASN][1000 genomes]
rs11941961	0.94[ASN][1000 genomes]
rs11942114	0.94[ASN][1000 genomes]
rs11944855	0.94[ASN][1000 genomes]
rs13102369	0.94[ASN][1000 genomes]
rs13108422	0.94[ASN][1000 genomes]
rs13108535	0.94[ASN][1000 genomes]
rs13108868	0.85[CHB][hapmap]
rs13110418	0.92[ASN][1000 genomes]
rs13115356	0.95[ASN][1000 genomes]
rs13118892	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13118945	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13121558	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs13121766	0.95[ASN][1000 genomes]
rs13122456	0.95[ASN][1000 genomes]
rs13122897	0.95[ASN][1000 genomes]
rs13127542	0.98[ASN][1000 genomes]
rs13130923	0.94[ASN][1000 genomes]
rs13131962	0.94[ASN][1000 genomes]
rs13132395	0.92[ASN][1000 genomes]
rs13133619	0.95[CHB][hapmap];0.97[CHD][hapmap];0.92[JPT][hapmap];0.94[ASN][1000 genomes]
rs13136721	0.95[CHB][hapmap];0.90[ASN][1000 genomes]
rs13136930	0.97[ASN][1000 genomes]
rs13137152	0.97[ASN][1000 genomes]
rs13137808	0.92[ASN][1000 genomes]
rs13137859	0.94[ASN][1000 genomes]
rs13138051	0.94[ASN][1000 genomes]
rs13138059	0.94[ASN][1000 genomes]
rs13138063	0.94[ASN][1000 genomes]
rs13138438	0.94[ASN][1000 genomes]
rs13146909	0.95[ASN][1000 genomes]
rs13147921	0.96[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.92[JPT][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13149404	0.94[ASN][1000 genomes]
rs13149968	0.95[CHB][hapmap];0.97[CHD][hapmap];0.85[JPT][hapmap];0.94[ASN][1000 genomes]
rs1349757	0.94[ASN][1000 genomes]
rs1426666	0.96[ASN][1000 genomes]
rs1527515	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1527516	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1534319	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17027308	0.95[CHB][hapmap];0.90[ASN][1000 genomes]
rs17484890	0.96[ASN][1000 genomes]
rs17484966	0.96[ASN][1000 genomes]
rs17486413	0.95[CHB][hapmap];0.97[CHD][hapmap];0.92[JPT][hapmap];0.94[ASN][1000 genomes]
rs17549003	1.00[ASN][1000 genomes]
rs17550217	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17550735	0.96[ASN][1000 genomes]
rs17558151	0.94[ASN][1000 genomes]
rs17558193	0.94[ASN][1000 genomes]
rs1834648	0.91[ASN][1000 genomes]
rs2114426	0.95[ASN][1000 genomes]
rs2167892	0.94[ASN][1000 genomes]
rs2839836	1.00[ASN][1000 genomes]
rs28415600	0.96[ASN][1000 genomes]
rs28485415	0.94[ASN][1000 genomes]
rs2865981	0.96[ASN][1000 genomes]
rs2865982	0.96[ASN][1000 genomes]
rs2865983	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2865985	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2865986	0.96[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2865987	0.94[ASN][1000 genomes]
rs2865988	0.95[CHB][hapmap];0.92[JPT][hapmap];0.94[ASN][1000 genomes]
rs2865989	0.94[ASN][1000 genomes]
rs2865990	0.80[CEU][hapmap];0.93[CHB][hapmap];0.82[JPT][hapmap];0.94[ASN][1000 genomes]
rs2865991	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2865993	0.94[ASN][1000 genomes]
rs28729647	0.94[ASN][1000 genomes]
rs28758886	0.94[ASN][1000 genomes]
rs28791018	0.89[ASN][1000 genomes]
rs28792413	0.90[ASN][1000 genomes]
rs2903152	0.95[CHB][hapmap];0.92[JPT][hapmap];0.94[ASN][1000 genomes]
rs2903154	0.94[ASN][1000 genomes]
rs34164616	0.96[ASN][1000 genomes]
rs34212748	0.94[ASN][1000 genomes]
rs34313689	0.96[ASN][1000 genomes]
rs34423396	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34509663	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34528953	0.95[ASN][1000 genomes]
rs34870112	0.94[ASN][1000 genomes]
rs34892904	0.97[ASN][1000 genomes]
rs34943050	0.85[ASN][1000 genomes]
rs35235971	0.97[ASN][1000 genomes]
rs35276471	0.94[ASN][1000 genomes]
rs35433756	0.94[ASN][1000 genomes]
rs35436270	0.90[ASN][1000 genomes]
rs35491210	0.97[ASN][1000 genomes]
rs35531558	0.97[ASN][1000 genomes]
rs35560671	0.94[ASN][1000 genomes]
rs35721906	0.95[ASN][1000 genomes]
rs35752787	0.95[ASN][1000 genomes]
rs35865860	1.00[ASN][1000 genomes]
rs35951881	0.97[ASN][1000 genomes]
rs36028444	1.00[ASN][1000 genomes]
rs3846443	0.96[ASN][1000 genomes]
rs3846444	0.96[ASN][1000 genomes]
rs3846445	0.96[ASN][1000 genomes]
rs3857216	0.96[ASN][1000 genomes]
rs3857217	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs3896704	0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs3911282	0.94[ASN][1000 genomes]
rs4334758	1.00[ASN][1000 genomes]
rs4345191	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs4443293	0.80[CEU][hapmap];0.95[CHB][hapmap];0.92[JPT][hapmap];0.93[ASN][1000 genomes]
rs4699323	0.80[ASW][hapmap]
rs4699324	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4699326	0.94[ASN][1000 genomes]
rs4699327	0.89[ASN][1000 genomes]
rs4699331	0.94[ASN][1000 genomes]
rs4699595	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4699596	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4699601	0.96[ASN][1000 genomes]
rs4699602	0.96[ASN][1000 genomes]
rs4699605	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58367603	0.96[ASN][1000 genomes]
rs59751489	0.93[ASN][1000 genomes]
rs60028147	0.84[ASN][1000 genomes]
rs60391193	0.95[ASN][1000 genomes]
rs60994860	0.94[ASN][1000 genomes]
rs62318502	0.95[ASN][1000 genomes]
rs62318503	0.95[ASN][1000 genomes]
rs62318504	0.94[ASN][1000 genomes]
rs62318940	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62321592	0.97[ASN][1000 genomes]
rs62321597	0.96[ASN][1000 genomes]
rs62321598	0.96[ASN][1000 genomes]
rs6532721	0.94[ASN][1000 genomes]
rs6532724	0.95[CHB][hapmap];0.97[CHD][hapmap];0.92[JPT][hapmap];0.94[ASN][1000 genomes]
rs6532725	0.94[ASN][1000 genomes]
rs6814353	0.91[ASN][1000 genomes]
rs6815312	0.92[ASN][1000 genomes]
rs6817645	0.96[ASN][1000 genomes]
rs6818045	0.94[ASN][1000 genomes]
rs6823718	0.95[CHB][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs6827474	0.90[ASN][1000 genomes]
rs6827516	1.00[ASN][1000 genomes]
rs6828752	0.94[ASN][1000 genomes]
rs6829567	0.94[ASN][1000 genomes]
rs6831925	0.98[ASN][1000 genomes]
rs6839277	0.96[ASN][1000 genomes]
rs6839454	0.95[CHB][hapmap];0.91[ASN][1000 genomes]
rs6840669	0.96[ASN][1000 genomes]
rs6848786	0.98[ASN][1000 genomes]
rs6853266	0.94[ASN][1000 genomes]
rs6853608	0.94[ASN][1000 genomes]
rs6854594	0.95[CHB][hapmap];0.92[JPT][hapmap];0.92[ASN][1000 genomes]
rs6854902	0.96[ASN][1000 genomes]
rs6854919	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6855393	0.92[ASN][1000 genomes]
rs7377018	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7656233	0.95[CHB][hapmap];0.97[CHD][hapmap];0.90[ASN][1000 genomes]
rs7657179	0.98[ASN][1000 genomes]
rs7657644	0.94[ASN][1000 genomes]
rs7659006	0.95[ASN][1000 genomes]
rs7659593	0.95[ASN][1000 genomes]
rs7659801	0.92[ASN][1000 genomes]
rs7663438	0.95[CHB][hapmap];0.91[JPT][hapmap];0.96[ASN][1000 genomes]
rs7663661	0.96[ASN][1000 genomes]
rs7663924	0.94[ASN][1000 genomes]
rs7664169	0.94[ASN][1000 genomes]
rs7664305	0.93[ASN][1000 genomes]
rs7664340	0.94[ASN][1000 genomes]
rs7667796	0.94[ASN][1000 genomes]
rs7672127	0.96[ASN][1000 genomes]
rs7672720	0.97[ASN][1000 genomes]
rs7672901	0.97[ASN][1000 genomes]
rs7673880	0.94[ASN][1000 genomes]
rs7674095	0.92[ASN][1000 genomes]
rs7678557	0.93[ASN][1000 genomes]
rs7678564	0.93[ASN][1000 genomes]
rs7678567	0.93[ASN][1000 genomes]
rs7678911	0.93[ASN][1000 genomes]
rs7679299	0.92[ASN][1000 genomes]
rs7680909	0.95[ASN][1000 genomes]
rs7682991	0.98[ASN][1000 genomes]
rs7683737	0.94[ASN][1000 genomes]
rs7684521	0.94[ASN][1000 genomes]
rs7684646	0.95[CHB][hapmap];0.97[CHD][hapmap];0.92[JPT][hapmap];0.94[ASN][1000 genomes]
rs7687958	0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7691433	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7691864	1.00[ASN][1000 genomes]
rs7696686	0.97[ASN][1000 genomes]
rs7696715	0.97[ASN][1000 genomes]
rs7697315	0.97[ASN][1000 genomes]
rs880470	0.93[ASN][1000 genomes]
rs880471	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs880473	0.80[AFR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs921523	0.81[GIH][hapmap]
rs9992257	0.92[ASN][1000 genomes]
rs9992281	0.95[ASN][1000 genomes]
rs9992360	0.95[ASN][1000 genomes]
rs9992470	0.87[ASN][1000 genomes]
rs9994346	0.94[ASN][1000 genomes]
rs9994641	0.88[ASN][1000 genomes]
rs9998803	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs9999200	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879643	chr4:98317295-99065480	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv868914	chr4:98416047-98969285	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1002098	chr4:98501337-99086320	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv537193	chr4:98501337-99086320	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv529623	chr4:98501338-99460166	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	nsv879648	chr4:98547717-99104879	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1000011	chr4:98562308-99101692	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1000956	chr4:98732458-99178588	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1005567	chr4:98779722-99031934	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv995045	chr4:98802844-99022958	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	esv11264	chr4:98841655-99028842	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv830017	chr4:98866299-99047777	ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv522741	chr4:98873667-99057457	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv528390	chr4:98873667-99065480	Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	esv12033	chr4:98951333-99056887	Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	nsv4436	chr4:98960857-99006834	Enhancers ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7666738	MEMO1	cis	Frontal Cortex	GTEx

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:98967400-98968600	Enhancers	HSMMtube	muscle
2	chr4:98968000-98968400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr4:98968000-98968600	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr4:98968000-98968600	Enhancers	HUES6 Cell Line	embryonic stem cell

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