Variant report

Variant	rs7224368
Chromosome Location	chr17:20772093-20772094
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:61)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:61 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:20771704-20774305	K562	blood:	n/a	n/a
2	POLR2A	chr17:20771721-20772107	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr17:20771733-20772253	K562	blood:	n/a	n/a
4	CBX3	chr17:20771289-20772187	K562	blood:	n/a	n/a
5	ELF1	chr17:20771727-20772199	K562	blood:	n/a	n/a
6	SIN3AK20	chr17:20771595-20772112	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr17:20771732-20773028	K562	blood:	n/a	n/a
8	YY1	chr17:20771724-20772257	SK-N-SH_RA	brain:	n/a	n/a
9	POLR2A	chr17:20771280-20772338	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr17:20771728-20772313	K562	blood:	n/a	n/a
11	IRF1	chr17:20771398-20772101	K562	blood:	n/a	n/a
12	POLR2A	chr17:20771722-20772285	H1-hESC	embryonic stem cell:	n/a	n/a
13	TAF1	chr17:20771737-20772229	K562	blood:	n/a	n/a
14	GATA2	chr17:20771433-20772109	K562	blood:	n/a	n/a
15	POLR2A	chr17:20771741-20772155	H1-neurons	neurons:	n/a	n/a
16	POLR2A	chr17:20771283-20772154	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr17:20771745-20772163	H1-neurons	neurons:	n/a	n/a
18	MAZ	chr17:20771435-20772273	K562	blood:	n/a	n/a
19	SIN3AK20	chr17:20771736-20772093	K562	blood:	n/a	n/a
20	REST	chr17:20771681-20772299	H1-neurons	neurons:	n/a	n/a
21	POLR2A	chr17:20771182-20772146	K562	blood:	n/a	n/a
22	HEY1	chr17:20770918-20772102	HepG2	liver:	n/a	n/a
23	REST	chr17:20771758-20772199	K562	blood:	n/a	n/a
24	POLR2A	chr17:20771276-20772143	K562	blood:	n/a	n/a
25	MAX	chr17:20771732-20772127	K562	blood:	n/a	n/a
26	GABPA	chr17:20771742-20772097	SK-N-SH	brain:	n/a	n/a
27	POLR2A	chr17:20771667-20772235	H1-hESC	embryonic stem cell:	n/a	n/a
28	TAF1	chr17:20771261-20772476	H1-hESC	embryonic stem cell:	n/a	n/a
29	PML	chr17:20771718-20772333	K562	blood:	n/a	n/a
30	CHD1	chr17:20771782-20772757	H1-hESC	embryonic stem cell:	n/a	n/a
31	RDBP	chr17:20771286-20772096	K562	blood:	n/a	n/a
32	IRF1	chr17:20771329-20772167	K562	blood:	n/a	n/a
33	TEAD4	chr17:20771712-20772241	K562	blood:	n/a	n/a
34	PML	chr17:20771695-20772152	K562	blood:	n/a	n/a
35	TBL1XR1	chr17:20771054-20772147	K562	blood:	n/a	n/a
36	EGR1	chr17:20772075-20772308	K562	blood:	n/a	n/a
37	YY1	chr17:20771761-20772225	K562	blood:	n/a	n/a
38	CHD2	chr17:20771264-20772113	K562	blood:	n/a	n/a
39	MXI1	chr17:20771316-20772889	SK-N-SH	brain:	n/a	n/a
40	BCLAF1	chr17:20771699-20774204	K562	blood:	n/a	n/a
41	POLR2A	chr17:20770317-20772142	HepG2	liver:	n/a	n/a
42	HEY1	chr17:20769307-20776159	K562	blood:	n/a	n/a
43	TBP	chr17:20770897-20772163	K562	blood:	n/a	n/a
44	TAF7	chr17:20771712-20772275	H1-hESC	embryonic stem cell:	n/a	n/a
45	CEBPD	chr17:20771666-20772111	K562	blood:	n/a	n/a
46	POLR2A	chr17:20771241-20772105	K562	blood:	n/a	n/a
47	TAL1	chr17:20770469-20772100	K562	blood:	n/a	n/a
48	POLR2A	chr17:20771282-20772173	K562	blood:	n/a	n/a
49	POLR2A	chr17:20771305-20772105	K562	blood:	n/a	n/a
50	RCOR1	chr17:20771346-20772156	K562	blood:	n/a	n/a

No data

Variant related genes	Relation type
CCDC144NL	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs4605228	1.00[YRI][hapmap]
rs8069869	1.00[YRI][hapmap]
rs8079083	1.00[YRI][hapmap]
rs9899381	1.00[YRI][hapmap]
rs9914022	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916440	chr17:20171468-20839266	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv2751619	chr17:20462908-20914156	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	esv3361931	chr17:20539962-20845258	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	esv3330516	chr17:20572433-20862663	Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1066490	chr17:20732646-20786993	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv960439	chr17:20733458-20799926	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv1057238	chr17:20734623-20786993	Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
8	nsv1057410	chr17:20736492-20782474	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
9	nsv1064007	chr17:20736492-20785902	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
10	nsv1065163	chr17:20736890-20778317	Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
11	nsv1067482	chr17:20737431-20782474	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
12	esv20326	chr17:20770633-20773328	Active TSS ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20769400-20778000	Active TSS	K562	blood
2	chr17:20770200-20772200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr17:20771000-20772200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr17:20771000-20773000	Bivalent/Poised TSS	HepG2	liver
5	chr17:20771200-20773600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr17:20771200-20774000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr17:20771200-20774200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr17:20771200-20774800	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr17:20771200-20775200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr17:20771400-20774600	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr17:20771600-20775000	Active TSS	H1 Cell Line	embryonic stem cell
12	chr17:20771800-20772200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
13	chr17:20771800-20772400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr17:20771800-20773000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr17:20771800-20774000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr17:20771800-20774200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr17:20771800-20774200	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr17:20771800-20774200	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr17:20771800-20774400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr17:20771800-20774400	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr17:20771800-20775000	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr17:20772000-20774600	Active TSS	iPS-20b Cell Line	embryonic stem cell

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