Variant report

Variant	rs5025273
Chromosome Location	chr17:67112456-67112457
allele	C/G
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	RELA	chr17:67111956-67112519	GM15510	blood:	n/a	n/a
2	NFIC	chr17:67111824-67112674	GM12878	blood:	n/a	n/a
3	RUNX3	chr17:67111870-67112613	GM12878	blood:	n/a	n/a
4	CREB1	chr17:67112012-67112570	GM12878	blood:	n/a	n/a
5	RELA	chr17:67111921-67112590	GM19193	blood:	n/a	n/a
6	MXI1	chr17:67111958-67112958	GM12878	blood:	n/a	n/a
7	CHD1	chr17:67111943-67113062	GM12878	blood:	n/a	n/a
8	RUNX3	chr17:67111929-67112581	GM12878	blood:	n/a	n/a
9	FOXM1	chr17:67111956-67112647	GM12878	blood:	n/a	n/a
10	SMC3	chr17:67111971-67112683	GM12878	blood:	n/a	n/a
11	ATF2	chr17:67111814-67112633	GM12878	blood:	n/a	n/a
12	IRF4	chr17:67112001-67112569	GM12878	blood:	n/a	n/a
13	BCL11A	chr17:67111962-67112539	GM12878	blood:	n/a	n/a
14	RCOR1	chr17:67111939-67112555	GM12878	blood:	n/a	n/a
15	NFATC1	chr17:67111943-67112612	GM12878	blood:	n/a	n/a
16	POLR2A	chr17:67111434-67113689	GM12891	blood:	n/a	n/a
17	SPI1	chr17:67112041-67112570	GM12891	blood:	n/a	chr17:67112328-67112337
18	EBF1	chr17:67111958-67112582	GM12878	blood:	n/a	n/a
19	IKZF1	chr17:67112016-67112586	GM12878	blood:	n/a	n/a
20	RFX5	chr17:67112043-67112536	GM12878	blood:	n/a	n/a
21	TBP	chr17:67111408-67115044	GM12878	blood:	n/a	n/a
22	SPI1	chr17:67112067-67112514	GM12891	blood:	n/a	chr17:67112328-67112337
23	ATF2	chr17:67111910-67112667	GM12878	blood:	n/a	n/a
24	SPI1	chr17:67111919-67112655	GM12878	blood:	n/a	chr17:67112328-67112337
25	YY1	chr17:67111955-67112468	GM12878	blood:	n/a	n/a
26	MEF2C	chr17:67111931-67112528	GM12878	blood:	n/a	n/a
27	POLR2A	chr17:67112352-67112583	GM12891	blood:	n/a	n/a
28	BCLAF1	chr17:67111963-67112617	GM12878	blood:	n/a	n/a
29	ZNF143	chr17:67112012-67112516	GM12878	blood:	n/a	n/a
30	RELA	chr17:67111955-67112580	GM18526	blood:	n/a	n/a
31	POLR2A	chr17:67112284-67112583	GM12892	blood:	n/a	n/a
32	BCL3	chr17:67111932-67112561	GM12878	blood:	n/a	n/a
33	EP300	chr17:67111943-67112933	GM12878	blood:	n/a	chr17:67112323-67112337
34	IRF4	chr17:67112021-67112586	GM12878	blood:	n/a	n/a
35	MTA3	chr17:67111936-67112583	GM12878	blood:	n/a	n/a
36	RELA	chr17:67111511-67113102	GM12878	blood:	n/a	n/a
37	EP300	chr17:67111926-67112834	GM12878	blood:	n/a	chr17:67112323-67112337
38	MEF2A	chr17:67111825-67112634	GM12878	blood:	n/a	n/a
39	STAT5A	chr17:67112094-67112511	GM12878	blood:	n/a	n/a
40	PML	chr17:67111843-67112628	GM12878	blood:	n/a	n/a
41	POLR2A	chr17:67112230-67112614	GM12891	blood:	n/a	n/a
42	YY1	chr17:67112054-67112572	GM12878	blood:	n/a	n/a
43	POU2F2	chr17:67112033-67112473	GM12878	blood:	n/a	chr17:67112294-67112304 chr17:67112287-67112309
44	CEBPB	chr17:67111913-67112706	GM12878	blood:	n/a	n/a
45	ZNF384	chr17:67111909-67112623	GM12878	blood:	n/a	n/a
46	SPI1	chr17:67112081-67112541	GM12878	blood:	n/a	chr17:67112328-67112337
47	RELA	chr17:67111981-67112582	GM18505	blood:	n/a	n/a
48	NFIC	chr17:67111740-67112722	GM12878	blood:	n/a	n/a
49	NFATC1	chr17:67111890-67112709	GM12878	blood:	n/a	n/a
50	SP1	chr17:67111936-67112558	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ABCA6	TF binding region

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1011789	0.81[CHB][hapmap]
rs1024598	0.81[CHB][hapmap]
rs11077403	0.81[CHB][hapmap]
rs11077942	0.81[CEU][hapmap]
rs11652530	0.87[CEU][hapmap];0.85[EUR][1000 genomes]
rs11655912	0.80[CHB][hapmap]
rs11659091	0.94[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11659119	0.82[CHB][hapmap]
rs12162136	0.89[EUR][1000 genomes]
rs12453914	0.87[EUR][1000 genomes]
rs12453921	0.85[CEU][hapmap]
rs12601388	0.83[EUR][1000 genomes]
rs12939282	0.83[CEU][hapmap];0.84[EUR][1000 genomes]
rs12940298	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs12943387	0.82[CHB][hapmap]
rs12950143	0.81[CHB][hapmap]
rs12952117	0.96[CEU][hapmap];0.95[EUR][1000 genomes]
rs1558167	0.82[CHB][hapmap]
rs16973567	0.96[CEU][hapmap];0.90[EUR][1000 genomes]
rs1974575	0.82[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1990335	0.89[EUR][1000 genomes]
rs2041170	0.85[EUR][1000 genomes]
rs2041171	0.83[CEU][hapmap];0.85[EUR][1000 genomes]
rs2190900	0.84[CEU][hapmap];0.85[EUR][1000 genomes]
rs2302132	0.81[CEU][hapmap]
rs2302133	0.81[CEU][hapmap]
rs2302134	0.81[CEU][hapmap]
rs2364315	0.81[ASN][1000 genomes]
rs2364991	0.81[CHB][hapmap]
rs2364992	0.81[CHB][hapmap]
rs3744489	0.84[CEU][hapmap];0.85[EUR][1000 genomes]
rs4141177	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs4334355	0.95[EUR][1000 genomes]
rs4603621	0.96[CEU][hapmap];0.95[EUR][1000 genomes]
rs4968838	0.96[CEU][hapmap];0.95[EUR][1000 genomes]
rs4968839	0.96[CEU][hapmap];0.95[EUR][1000 genomes]
rs6501183	0.95[EUR][1000 genomes]
rs7207609	0.89[EUR][1000 genomes]
rs7208586	0.88[CEU][hapmap];0.95[EUR][1000 genomes]
rs7213831	0.92[CEU][hapmap];0.94[EUR][1000 genomes]
rs7214079	0.95[CEU][hapmap];0.92[EUR][1000 genomes]
rs7221183	0.82[CHB][hapmap]
rs7503217	0.89[EUR][1000 genomes]
rs7504026	0.94[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs8064583	0.81[CHB][hapmap]
rs8064595	0.92[CEU][hapmap];0.95[EUR][1000 genomes]
rs8067584	0.82[CHB][hapmap]
rs8071373	0.81[CHB][hapmap]
rs8073982	0.80[CHB][hapmap];0.84[JPT][hapmap]
rs8077252	0.96[CEU][hapmap];0.89[EUR][1000 genomes]
rs8078314	0.85[EUR][1000 genomes]
rs8079981	0.92[CEU][hapmap];0.95[EUR][1000 genomes]
rs8080693	0.81[CHB][hapmap]
rs9282552	0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs9303012	0.96[EUR][1000 genomes]
rs976698	0.85[EUR][1000 genomes]
rs981453	0.81[CHB][hapmap]
rs9894644	0.82[CHB][hapmap]
rs9909216	0.81[CHB][hapmap]
rs9916693	0.92[CEU][hapmap];0.95[EUR][1000 genomes]
rs997781	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067334	chr17:66695039-67221585	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv543411	chr17:66695039-67221585	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv833526	chr17:66980758-67137034	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv908705	chr17:67061898-67112456	Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
5	esv1850212	chr17:67081732-67117428	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
6	nsv470598	chr17:67081830-67212595	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:67077800-67137800	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr17:67079400-67112600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr17:67079400-67117600	Weak transcription	Esophagus	oesophagus
4	chr17:67079600-67114200	Weak transcription	NHDF-Ad	bronchial
5	chr17:67081400-67118600	Weak transcription	Right Ventricle	heart
6	chr17:67082200-67114400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr17:67087000-67114600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr17:67087000-67130400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr17:67091200-67131400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr17:67091600-67130000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr17:67092200-67137600	Weak transcription	Brain Anterior Caudate	brain
12	chr17:67095800-67131000	Weak transcription	Fetal Muscle Leg	muscle
13	chr17:67096200-67143400	Weak transcription	Psoas Muscle	Psoas
14	chr17:67096400-67134000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr17:67097000-67133800	Weak transcription	Colon Smooth Muscle	Colon
16	chr17:67099000-67131600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr17:67101200-67143400	Weak transcription	Pancreas	Pancrea
18	chr17:67103200-67113400	Strong transcription	Fetal Lung	lung
19	chr17:67104800-67114600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr17:67106400-67131400	Weak transcription	Left Ventricle	heart
21	chr17:67108000-67117400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr17:67108400-67114200	Weak transcription	Ovary	ovary
23	chr17:67109400-67114400	Weak transcription	HUVEC	blood vessel
24	chr17:67109600-67129200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr17:67110000-67114200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr17:67110000-67114200	Weak transcription	Adipose Nuclei	Adipose
27	chr17:67110800-67113000	Enhancers	Primary B cells from peripheral blood	blood
28	chr17:67110800-67114400	Enhancers	Primary B cells from cord blood	blood
29	chr17:67110800-67115600	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr17:67111000-67114000	Weak transcription	Right Atrium	heart
31	chr17:67111200-67117200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr17:67111600-67113000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr17:67111800-67112600	Active TSS	GM12878-XiMat	blood
34	chr17:67111800-67114000	Weak transcription	Fetal Heart	heart
35	chr17:67112200-67113000	Genic enhancers	Liver	Liver
36	chr17:67112400-67114200	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr17:67112400-67114400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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