Variant report

Variant	rs16971122
Chromosome Location	chr17:33888098-33888099
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:78)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:78 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HDAC2	chr17:33887685-33888151	K562	blood:	n/a	n/a
2	POLR2A	chr17:33887696-33888200	K562	blood:	n/a	n/a
3	CEBPB	chr17:33887763-33888238	K562	blood:	n/a	n/a
4	TAL1	chr17:33887484-33888287	K562	blood:	n/a	chr17:33887926-33887944
5	ZNF143	chr17:33887751-33888246	K562	blood:	n/a	n/a
6	CUX1	chr17:33887798-33888317	K562	blood:	n/a	n/a
7	REST	chr17:33887714-33888146	K562	blood:	n/a	n/a
8	CEBPD	chr17:33887678-33888281	K562	blood:	n/a	n/a
9	ELF1	chr17:33887785-33888098	K562	blood:	n/a	n/a
10	GTF2B	chr17:33887730-33888184	K562	blood:	n/a	n/a
11	RFX5	chr17:33887787-33888216	K562	blood:	n/a	n/a
12	TEAD4	chr17:33887566-33888268	K562	blood:	n/a	n/a
13	GATA2	chr17:33887745-33888158	K562	blood:	n/a	chr17:33887966-33887979
14	CREB1	chr17:33887644-33888283	K562	blood:	n/a	n/a
15	STAT5A	chr17:33887652-33888212	K562	blood:	n/a	n/a
16	CCNT2	chr17:33887719-33888299	K562	blood:	n/a	chr17:33887926-33887946
17	JUN	chr17:33886291-33888438	K562	blood:	n/a	chr17:33886818-33886827
18	POLR2A	chr17:33887766-33888126	K562	blood:	n/a	n/a
19	BHLHE40	chr17:33887064-33888141	K562	blood:	n/a	n/a
20	GATA1	chr17:33887763-33888205	PBDEFetal	blood:	n/a	chr17:33887966-33887979
21	MEF2A	chr17:33887652-33888298	K562	blood:	n/a	chr17:33887734-33887745
22	ATF1	chr17:33887771-33888173	K562	blood:	n/a	n/a
23	MEF2A	chr17:33887740-33888158	K562	blood:	n/a	n/a
24	GATA1	chr17:33887776-33888128	K562	blood:	n/a	chr17:33887966-33887979
25	SMARCA4	chr17:33887719-33888263	K562	blood:	n/a	n/a
26	TBP	chr17:33887665-33888221	K562	blood:	n/a	n/a
27	NR2F2	chr17:33887385-33888450	K562	blood:	n/a	n/a
28	HMGN3	chr17:33887749-33888204	K562	blood:	n/a	n/a
29	TBL1XR1	chr17:33887609-33888269	K562	blood:	n/a	n/a
30	BACH1	chr17:33887789-33888122	K562	blood:	n/a	n/a
31	TAF1	chr17:33887720-33888098	K562	blood:	n/a	n/a
32	ZNF274	chr17:33887735-33888119	K562	blood:	n/a	n/a
33	GATA2	chr17:33887639-33888251	K562	blood:	n/a	chr17:33887966-33887979
34	CTCF	chr17:33887890-33888248	K562	blood:	n/a	n/a
35	POLR2A	chr17:33887668-33888201	K562	blood:	n/a	n/a
36	CEBPB	chr17:33887650-33888252	K562	blood:	n/a	n/a
37	JUN	chr17:33887691-33888285	K562	blood:	n/a	n/a
38	GATA2	chr17:33887662-33888129	K562	blood:	n/a	chr17:33887966-33887979
39	MAFF	chr17:33887776-33888198	K562	blood:	n/a	n/a
40	IRF1	chr17:33887659-33888298	K562	blood:	n/a	chr17:33887815-33887829
41	POLR2A	chr17:33887725-33888136	K562	blood:	n/a	n/a
42	ZMIZ1	chr17:33887703-33888194	K562	blood:	n/a	n/a
43	STAT3	chr17:33888084-33888121	GM12878	blood:	n/a	n/a
44	RCOR1	chr17:33887639-33888225	K562	blood:	n/a	n/a
45	MXI1	chr17:33887702-33888141	K562	blood:	n/a	n/a
46	POLR2A	chr17:33887657-33888169	K562	blood:	n/a	n/a
47	MAX	chr17:33887744-33888117	K562	blood:	n/a	n/a
48	EGR1	chr17:33887785-33888098	K562	blood:	n/a	n/a
49	TRIM28	chr17:33887589-33888221	K562	blood:	n/a	n/a
50	MYC	chr17:33887700-33888184	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr17:33886569..33888158-chr17:33903900..33905940,3	MCF-7	breast:
2	chr17:33864569..33869358-chr17:33886341..33888790,5	K562	blood:
3	chr17:33883508..33885797-chr17:33888017..33890924,2	MCF-7	breast:
4	chr17:33886372..33890944-chr17:33891247..33895229,11	K562	blood:

No data

Variant related genes	Relation type
SLFN14	TF binding region
ENSG00000006125	Chromatin interaction
ENSG00000267035	Chromatin interaction
ENSG00000205045	Chromatin interaction
ENSG00000236320	Chromatin interaction
ENSG00000267321	Chromatin interaction
ENSG00000242660	Chromatin interaction
ENSG00000108733	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1037591	0.89[CHB][hapmap];0.92[JPT][hapmap];0.85[YRI][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10491114	0.89[CHB][hapmap];0.91[JPT][hapmap];0.85[YRI][hapmap];0.85[AMR][1000 genomes]
rs10491115	0.81[AMR][1000 genomes]
rs11870399	0.85[AMR][1000 genomes]
rs12452633	0.89[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12600662	0.86[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16971117	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1964509	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs226424	0.89[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap]
rs226427	0.89[CHB][hapmap];0.92[JPT][hapmap]
rs226433	0.89[CHB][hapmap];0.91[JPT][hapmap];0.85[YRI][hapmap]
rs226435	0.89[CHB][hapmap];0.91[JPT][hapmap];0.85[YRI][hapmap]
rs226436	0.89[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap]
rs2278950	0.89[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2301731	0.85[AMR][1000 genomes]
rs28361509	0.93[AFR][1000 genomes]
rs28384428	0.89[CHB][hapmap];0.91[JPT][hapmap];0.85[YRI][hapmap];0.85[AMR][1000 genomes]
rs28384429	0.85[AMR][1000 genomes]
rs28661650	0.81[AMR][1000 genomes]
rs3760325	0.89[CHB][hapmap];0.91[JPT][hapmap]
rs3785759	0.89[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes]
rs62079728	0.85[AMR][1000 genomes]
rs7211363	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9303689	0.89[CHB][hapmap];0.91[JPT][hapmap];0.85[YRI][hapmap];0.85[AMR][1000 genomes]
rs9891317	0.85[AMR][1000 genomes]
rs9904644	0.91[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs9904957	0.85[AMR][1000 genomes]
rs9906037	0.85[AMR][1000 genomes]
rs9907911	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534371	chr17:33456878-34094068	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
2	nsv908079	chr17:33849869-34034851	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
3	nsv1060890	chr17:33884124-34011034	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	nsv543318	chr17:33884124-34011034	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 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	chr17:33870400-33888600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr17:33883400-33888600	Enhancers	Primary hematopoietic stem cells	blood
3	chr17:33886000-33888400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr17:33886800-33888600	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr17:33886800-33889600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr17:33887200-33888200	Enhancers	Duodenum Mucosa	Duodenum
7	chr17:33887600-33888200	Active TSS	K562	blood
8	chr17:33887800-33888600	Enhancers	Fetal Thymus	thymus

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