Variant report

Variant	rs1988667
Chromosome Location	chr17:60221292-60221293
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:48)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:48 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TRIM28	chr17:60220875-60221298	K562	blood:	n/a	n/a
2	CEBPB	chr17:60220906-60221333	K562	blood:	n/a	n/a
3	MAZ	chr17:60220931-60221368	K562	blood:	n/a	n/a
4	CEBPB	chr17:60220939-60221303	K562	blood:	n/a	n/a
5	GATA2	chr17:60220931-60221353	K562	blood:	n/a	n/a
6	STAT5A	chr17:60220874-60221312	K562	blood:	n/a	n/a
7	MYC	chr17:60220975-60221372	K562	blood:	n/a	n/a
8	JUND	chr17:60220880-60221358	K562	blood:	n/a	n/a
9	CCNT2	chr17:60220951-60221361	K562	blood:	n/a	n/a
10	TEAD4	chr17:60220787-60221646	K562	blood:	n/a	n/a
11	POLR2A	chr17:60220829-60221326	K562	blood:	n/a	n/a
12	GATA1	chr17:60220770-60221526	K562	blood:	n/a	n/a
13	MYC	chr17:60220931-60221622	K562	blood:	n/a	n/a
14	GABPA	chr17:60220902-60221313	K562	blood:	n/a	n/a
15	TBL1XR1	chr17:60220882-60221302	K562	blood:	n/a	n/a
16	TEAD4	chr17:60220781-60221425	K562	blood:	n/a	n/a
17	POLR2A	chr17:60220763-60221763	K562	blood:	n/a	n/a
18	NR2F2	chr17:60220720-60221482	K562	blood:	n/a	n/a
19	GATA2	chr17:60220841-60221340	K562	blood:	n/a	n/a
20	CEBPD	chr17:60220815-60221367	K562	blood:	n/a	n/a
21	GATA1	chr17:60220932-60221328	PBDEFetal	blood:	n/a	n/a
22	CEBPD	chr17:60220846-60221420	K562	blood:	n/a	n/a
23	GATA1	chr17:60220537-60221706	PBDE	blood:	n/a	n/a
24	MAX	chr17:60220966-60221412	K562	blood:	n/a	n/a
25	POLR2A	chr17:60220854-60221305	K562	blood:	n/a	n/a
26	GABPA	chr17:60220957-60221370	K562	blood:	n/a	n/a
27	TAL1	chr17:60220849-60221377	K562	blood:	n/a	n/a
28	CBX3	chr17:60220845-60221639	K562	blood:	n/a	n/a
29	USF1	chr17:60220871-60221411	K562	blood:	n/a	n/a
30	NR2F2	chr17:60220787-60221409	K562	blood:	n/a	n/a
31	GTF3C2	chr17:60220801-60221507	K562	blood:	n/a	n/a
32	CBX3	chr17:60220783-60221697	K562	blood:	n/a	n/a
33	TRIM28	chr17:60220782-60221519	K562	blood:	n/a	n/a
34	POLR2A	chr17:60220870-60221333	K562	blood:	n/a	n/a
35	EP300	chr17:60220881-60221368	K562	blood:	n/a	n/a
36	ZMIZ1	chr17:60220915-60221304	K562	blood:	n/a	n/a
37	EGR1	chr17:60221012-60221301	K562	blood:	n/a	n/a
38	JUN	chr17:60220829-60221732	K562	blood:	n/a	n/a
39	RCOR1	chr17:60220874-60221383	K562	blood:	n/a	n/a
40	GATA2	chr17:60220841-60221390	K562	blood:	n/a	n/a
41	GATA1	chr17:60220926-60221305	K562	blood:	n/a	n/a
42	PML	chr17:60220863-60221384	K562	blood:	n/a	n/a
43	USF1	chr17:60220910-60221394	K562	blood:	n/a	n/a
44	MAX	chr17:60220960-60221379	K562	blood:	n/a	n/a
45	BHLHE40	chr17:60220904-60221583	K562	blood:	n/a	n/a
46	SETDB1	chr17:60221018-60221509	U2OS	brain:	n/a	n/a
47	RCOR1	chr17:60220990-60221300	K562	blood:	n/a	n/a
48	STAT5A	chr17:60220780-60221417	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:60214128..60216954-chr17:60220160..60222067,2	K562	blood:

No data

Variant related genes	Relation type
POLRMTP1	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11867416	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12449546	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12450586	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12937135	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12938238	0.89[EUR][1000 genomes]
rs12940263	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12941451	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12942668	0.87[EUR][1000 genomes]
rs12943549	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12945310	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12946816	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12947100	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12947777	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12951752	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17544195	0.89[EUR][1000 genomes]
rs35426361	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62070710	0.89[EUR][1000 genomes]
rs62070711	0.94[EUR][1000 genomes]
rs62070714	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062816	chr17:60074670-60470465	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	esv2755037	chr17:60086508-60386211	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv3415630	chr17:60124819-60401635	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv833507	chr17:60174659-60369541	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv469887	chr17:60176679-60381899	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv482579	chr17:60176679-60381899	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv575844	chr17:60199130-60434267	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv1055856	chr17:60202722-60408137	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv543401	chr17:60202722-60408137	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:60218400-60221400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr17:60218600-60223200	Weak transcription	Fetal Intestine Large	intestine
3	chr17:60218600-60225600	Weak transcription	Fetal Intestine Small	intestine
4	chr17:60220000-60223600	Enhancers	K562	blood
5	chr17:60220200-60222200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr17:60220600-60222200	Enhancers	Placenta	Placenta
7	chr17:60220600-60224400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr17:60220800-60221600	Enhancers	Rectal Mucosa Donor 29	rectum
9	chr17:60220800-60222000	Enhancers	A549	lung
10	chr17:60221000-60221600	Enhancers	Stomach Mucosa	stomach
11	chr17:60221000-60221600	Enhancers	HepG2	liver
12	chr17:60221200-60222000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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