Variant report

Variant	rs1295136
Chromosome Location	chr7:16308583-16308584
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:155)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:155 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr7:16308360-16309351	K562	blood:	n/a	n/a
2	IRF1	chr7:16307420-16309654	K562	blood:	n/a	n/a
3	JUN	chr7:16308387-16309063	K562	blood:	n/a	n/a
4	ZNF274	chr7:16308452-16309018	K562	blood:	n/a	n/a
5	EP300	chr7:16308375-16309135	SK-N-SH	brain:	n/a	n/a
6	KAP1	chr7:16308482-16308769	K562	blood:	n/a	n/a
7	JUND	chr7:16308447-16309123	SK-N-SH	brain:	n/a	n/a
8	IRF1	chr7:16307406-16309509	K562	blood:	n/a	n/a
9	MAFK	chr7:16308391-16309382	K562	blood:	n/a	n/a
10	ATF3	chr7:16308269-16309108	K562	blood:	n/a	n/a
11	MAX	chr7:16308406-16308887	K562	blood:	n/a	n/a
12	YY1	chr7:16308560-16308829	K562	blood:	n/a	n/a
13	ZNF143	chr7:16308409-16309233	K562	blood:	n/a	n/a
14	GATA3	chr7:16308306-16309220	SK-N-SH	brain:	n/a	n/a
15	SMARCB1	chr7:16308326-16309376	K562	blood:	n/a	n/a
16	TEAD4	chr7:16308032-16309305	K562	blood:	n/a	n/a
17	NFIC	chr7:16308318-16309172	SK-N-SH	brain:	n/a	n/a
18	EP300	chr7:16308273-16309135	GM12878	blood:	n/a	n/a
19	ZMIZ1	chr7:16308296-16309513	K562	blood:	n/a	n/a
20	JUND	chr7:16308450-16309161	SK-N-SH	brain:	n/a	n/a
21	GATA3	chr7:16308545-16308910	MCF-7	breast:	n/a	n/a
22	JUN	chr7:16308360-16309021	K562	blood:	n/a	n/a
23	BCL3	chr7:16308310-16309048	K562	blood:	n/a	n/a
24	MAZ	chr7:16308317-16309164	K562	blood:	n/a	n/a
25	TRIM28	chr7:16308257-16309390	K562	blood:	n/a	n/a
26	SIRT6	chr7:16308410-16308983	K562	blood:	n/a	n/a
27	POLR2A	chr7:16308531-16308970	SK-N-SH	brain:	n/a	n/a
28	PML	chr7:16308152-16309279	K562	blood:	n/a	n/a
29	NFYA	chr7:16308371-16309051	K562	blood:	n/a	n/a
30	GTF2B	chr7:16308390-16308778	K562	blood:	n/a	n/a
31	FOSL2	chr7:16308459-16309078	SK-N-SH	brain:	n/a	n/a
32	TAF7	chr7:16308348-16308906	K562	blood:	n/a	n/a
33	FOSL1	chr7:16308519-16309031	HCT-116	colon:	n/a	n/a
34	GATA1	chr7:16308332-16309373	PBDE	blood:	n/a	n/a
35	BCLAF1	chr7:16308322-16309035	K562	blood:	n/a	n/a
36	TBL1XR1	chr7:16307592-16309792	K562	blood:	n/a	n/a
37	CBX3	chr7:16308325-16309283	K562	blood:	n/a	n/a
38	JUN	chr7:16308327-16309066	K562	blood:	n/a	n/a
39	GATA1	chr7:16307357-16310002	K562	blood:	n/a	chr7:16307797-16307813 chr7:16307832-16307839 chr7:16307802-16307809 chr7:16307802-16307809 chr7:16307802-16307809 chr7:16307832-16307839 chr7:16307832-16307842 chr7:16307795-16307816 chr7:16307827-16307843 chr7:16307832-16307839 chr7:16307802-16307812 chr7:16307825-16307846
40	TEAD4	chr7:16308177-16309472	K562	blood:	n/a	n/a
41	IRF1	chr7:16308399-16308941	K562	blood:	n/a	n/a
42	RFX5	chr7:16308236-16308960	K562	blood:	n/a	n/a
43	CTCF	chr7:16308367-16308961	K562	blood:	n/a	n/a
44	ATF1	chr7:16308377-16309311	K562	blood:	n/a	n/a
45	POLR2A	chr7:16308310-16308910	K562	blood:	n/a	n/a
46	SP1	chr7:16308409-16309170	HCT-116	colon:	n/a	n/a
47	MXI1	chr7:16308431-16308968	K562	blood:	n/a	n/a
48	SP1	chr7:16308322-16309025	K562	blood:	n/a	n/a
49	CCNT2	chr7:16308074-16309185	K562	blood:	n/a	n/a
50	CEBPD	chr7:16308288-16309202	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:16307891..16309646-chr7:16460887..16462647,2	K562	blood:
2	chr7:16307737..16311020-chr7:16684818..16687152,3	K562	blood:
3	chr7:16302978..16309646-chr7:16456908..16462647,13	K562	blood:
4	chr7:16307417..16309237-chr7:16685352..16687215,2	K562	blood:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC006035.2-1	chr7:16308482-16308872	ENSG00000229688
2	lnc-AC006035.2-1	chr7:16308482-16310229	ENSG00000229688
3	lnc-AC006035.2-1	chr7:16308482-16310229	NONHSAT119292
4	lnc-AC006035.2-1	chr7:16308482-16310229	NONHSAT119293
5	lnc-AC006035.2-1	chr7:16308482-16310229	NONHSAT119294
6	lnc-AC006035.2-1	chr7:16308482-16309502	NONHSAT119296
7	lnc-AC006035.2-1	chr7:16308482-16309502	NONHSAT119295

No data

Variant related genes	Relation type
ISPD-AS1	TF binding region
ENSG00000136261	Chromatin interaction
ENSG00000214960	Chromatin interaction
ENSG00000106524	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1012401	0.86[EUR][1000 genomes]
rs1012402	0.86[EUR][1000 genomes]
rs10252017	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1034959	0.85[CEU][hapmap]
rs11975989	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.82[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1295131	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1295133	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1295134	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1295135	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1295138	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1295139	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1295142	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1295143	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1295149	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1295150	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1295152	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1295161	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1295162	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1295163	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1295167	0.89[AFR][1000 genomes]
rs13230369	0.86[EUR][1000 genomes]
rs1527204	0.85[EUR][1000 genomes]
rs1528137	0.91[CEU][hapmap]
rs17150163	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1918859	0.84[CEU][hapmap]
rs2056419	0.93[CEU][hapmap];0.87[CHD][hapmap];0.81[JPT][hapmap];0.82[MEX][hapmap];0.87[TSI][hapmap]
rs2056420	0.92[CEU][hapmap]
rs2389593	0.85[AFR][1000 genomes]
rs28837728	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6945873	0.93[CEU][hapmap]
rs7805187	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016642	chr7:15884061-16799788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv948950	chr7:16168925-16395434	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv2757214	chr7:16236162-16334228	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv2759514	chr7:16236162-16527390	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	esv34298	chr7:16251754-16324185	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv1022388	chr7:16251992-16431864	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv1017498	chr7:16262300-16313476	Enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv1022814	chr7:16262300-16339988	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv470133	chr7:16269632-16312056	Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	esv2758105	chr7:16272822-16527390	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16305200-16313200	Weak transcription	Fetal Lung	lung
2	chr7:16305600-16312800	Weak transcription	Gastric	stomach
3	chr7:16307000-16311600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr7:16307200-16309000	Active TSS	K562	blood
5	chr7:16307200-16311400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr7:16307200-16312800	Weak transcription	Ovary	ovary
7	chr7:16308400-16308800	Enhancers	Left Ventricle	heart
8	chr7:16308400-16309200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr7:16308400-16309200	Enhancers	NHEK	skin
10	chr7:16308400-16309400	Enhancers	Fetal Heart	heart

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