Variant report

Variant	rs3917814
Chromosome Location	chr1:169565282-169565283
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:63)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:63 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr1:169564889-169565436	PANC-1	pancreas:	n/a	n/a
2	MXI1	chr1:169565032-169565356	H1-hESC	embryonic stem cell:	n/a	n/a
3	REST	chr1:169564943-169565444	Hela-S3	cervix:	n/a	n/a
4	REST	chr1:169564931-169565500	HCT-116	colon:	n/a	n/a
5	SIN3A	chr1:169565120-169565328	GM12878	blood:	n/a	n/a
6	REST	chr1:169564814-169565593	ECC-1	luminal epithelium:	n/a	n/a
7	REST	chr1:169565018-169565316	PFSK-1	brain:	n/a	n/a
8	REST	chr1:169565081-169565331	U87	brain:	n/a	n/a
9	EP300	chr1:169565124-169565341	GM12878	blood:	n/a	n/a
10	REST	chr1:169564942-169565437	H1-hESC	embryonic stem cell:	n/a	n/a
11	REST	chr1:169564967-169565572	PANC-1	pancreas:	n/a	n/a
12	POLR2A	chr1:169565170-169565341	ProgFib	skin:	n/a	n/a
13	REST	chr1:169565068-169565292	PANC-1	pancreas:	n/a	n/a
14	SIN3AK20	chr1:169564997-169565320	H1-hESC	embryonic stem cell:	n/a	n/a
15	REST	chr1:169564961-169565391	A549	lung:	n/a	n/a
16	REST	chr1:169565047-169565323	HepG2	liver:	n/a	n/a
17	ZNF143	chr1:169564962-169565369	H1-hESC	embryonic stem cell:	n/a	n/a
18	REST	chr1:169564719-169565709	MCF-7	breast:	n/a	n/a
19	REST	chr1:169564984-169565355	PFSK-1	brain:	n/a	n/a
20	SIN3AK20	chr1:169564856-169565584	MCF-7	breast:	n/a	n/a
21	MYC	chr1:169565153-169565293	MCF10A-Er-Src	breast:	n/a	n/a
22	REST	chr1:169564911-169565475	H1-hESC	embryonic stem cell:	n/a	n/a
23	REST	chr1:169564807-169565554	GM12878	blood:	n/a	n/a
24	HDAC2	chr1:169564966-169565453	MCF-7	breast:	n/a	n/a
25	TEAD4	chr1:169564948-169565494	A549	lung:	n/a	n/a
26	REST	chr1:169564989-169565363	HepG2	liver:	n/a	n/a
27	SIN3A	chr1:169565011-169565352	H1-hESC	embryonic stem cell:	n/a	n/a
28	MAX	chr1:169565026-169565385	H1-hESC	embryonic stem cell:	n/a	n/a
29	REST	chr1:169564788-169565665	ECC-1	luminal epithelium:	n/a	n/a
30	REST	chr1:169564855-169565531	HL-60	blood:	n/a	n/a
31	SMC3	chr1:169565133-169565282	HepG2	liver:	n/a	n/a
32	REST	chr1:169565042-169565316	GM12878	blood:	n/a	n/a
33	REST	chr1:169564955-169565374	K562	blood:	n/a	n/a
34	REST	chr1:169564911-169565501	HepG2	liver:	n/a	n/a
35	REST	chr1:169564943-169565378	U87	brain:	n/a	n/a
36	REST	chr1:169564970-169565308	PANC-1	pancreas:	n/a	n/a
37	MAX	chr1:169564956-169565387	H1-hESC	embryonic stem cell:	n/a	n/a
38	REST	chr1:169565086-169565315	U87	brain:	n/a	n/a
39	REST	chr1:169565033-169565301	SK-N-SH	brain:	n/a	n/a
40	MXI1	chr1:169564905-169565358	IMR90	lung:	n/a	n/a
41	MAX	chr1:169565079-169565336	GM12878	blood:	n/a	n/a
42	REST	chr1:169564947-169565476	PFSK-1	brain:	n/a	n/a
43	REST	chr1:169564521-169565730	HL-60	blood:	n/a	n/a
44	MXI1	chr1:169565019-169565323	GM12878	blood:	n/a	n/a
45	REST	chr1:169564884-169565556	A549	lung:	n/a	n/a
46	ZNF143	chr1:169565004-169565350	GM12878	blood:	n/a	n/a
47	RCOR1	chr1:169565038-169565331	GM12878	blood:	n/a	n/a
48	REST	chr1:169564897-169565447	PFSK-1	brain:	n/a	n/a
49	REST	chr1:169564920-169565424	GM12878	blood:	n/a	n/a
50	REST	chr1:169564793-169565487	MCF-7	breast:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:169562439..169565344-chr1:169568413..169571209,3	K562	blood:
2	chr1:169564132..169566509-chr1:169578988..169581892,2	K562	blood:

No data

Variant related genes	Relation type
SELP	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs16862686	1.00[CEU][hapmap]
rs28565131	1.00[AMR][1000 genomes]
rs3917407	1.00[CEU][hapmap]
rs3917408	1.00[CEU][hapmap]
rs3917658	1.00[AMR][1000 genomes]
rs3917772	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3917812	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[MKK][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3917869	1.00[GIH][hapmap]
rs5364	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs59251103	1.00[AMR][1000 genomes]
rs6031	1.00[CEU][hapmap]
rs6124	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs9332485	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs9332605	1.00[CEU][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169558800-169570000	Weak transcription	Primary T cells from cord blood	blood
2	chr1:169559200-169570400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:169564000-169570200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr1:169564400-169569800	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr1:169565000-169566000	Enhancers	Liver	Liver
6	chr1:169565200-169565600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:169565200-169566600	Enhancers	Adipose Nuclei	Adipose
8	chr1:169565200-169570400	Weak transcription	GM12878-XiMat	blood

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