Variant report

Variant	rs529290290
Chromosome Location	chr17:46654041-46654042
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:58)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:58 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:46654007-46655302	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr17:46653832-46656965	K562	blood:	n/a	n/a
3	CEBPB	chr17:46654025-46654454	MCF-7	breast:	n/a	n/a
4	TRIM28	chr17:46654034-46654626	K562	blood:	n/a	n/a
5	POLR2A	chr17:46653980-46655428	PANC-1	pancreas:	n/a	n/a
6	E2F6	chr17:46654021-46654384	K562	blood:	n/a	n/a
7	TEAD4	chr17:46654008-46654539	ECC-1	luminal epithelium:	n/a	n/a
8	POLR2A	chr17:46652443-46656956	K562	blood:	n/a	n/a
9	CEBPB	chr17:46654009-46654383	K562	blood:	n/a	n/a
10	YY1	chr17:46654012-46654222	K562	blood:	n/a	n/a
11	HDAC2	chr17:46653981-46654523	MCF-7	breast:	n/a	chr17:46654400-46654414
12	PML	chr17:46654000-46654587	K562	blood:	n/a	n/a
13	GATA2	chr17:46654020-46654455	K562	blood:	n/a	n/a
14	HDAC2	chr17:46654026-46654459	MCF-7	breast:	n/a	chr17:46654400-46654414
15	SIN3AK20	chr17:46653860-46654675	MCF-7	breast:	n/a	n/a
16	MYC	chr17:46654039-46654543	K562	blood:	n/a	n/a
17	YY1	chr17:46653995-46654426	K562	blood:	n/a	n/a
18	TCF12	chr17:46653880-46654597	ECC-1	luminal epithelium:	n/a	n/a
19	POLR2A	chr17:46654012-46655414	K562	blood:	n/a	n/a
20	TEAD4	chr17:46654008-46656463	K562	blood:	n/a	n/a
21	EGR1	chr17:46653931-46654562	HCT-116	colon:	n/a	n/a
22	HEY1	chr17:46654040-46655408	K562	blood:	n/a	n/a
23	POLR2A	chr17:46654017-46655423	ECC-1	luminal epithelium:	n/a	n/a
24	EGR1	chr17:46654017-46654976	HCT-116	colon:	n/a	chr17:46654693-46654706 chr17:46654692-46654707
25	TAF1	chr17:46654003-46654823	K562	blood:	n/a	n/a
26	MEF2A	chr17:46653638-46654041	K562	blood:	n/a	n/a
27	MAX	chr17:46653920-46654638	K562	blood:	n/a	n/a
28	EP300	chr17:46653791-46655598	ECC-1	luminal epithelium:	n/a	chr17:46654401-46654415
29	CCNT2	chr17:46654035-46654454	K562	blood:	n/a	n/a
30	POLR2A	chr17:46654001-46657126	K562	blood:	n/a	n/a
31	EGR1	chr17:46654017-46654613	MCF-7	breast:	n/a	n/a
32	MAX	chr17:46654017-46654525	K562	blood:	n/a	n/a
33	POLR2A	chr17:46654040-46657048	K562	blood:	n/a	n/a
34	SIN3AK20	chr17:46653792-46654688	MCF-7	breast:	n/a	n/a
35	EGR1	chr17:46654021-46654496	ECC-1	luminal epithelium:	n/a	n/a
36	POLR2A	chr17:46654021-46654344	ECC-1	luminal epithelium:	n/a	n/a
37	EGR1	chr17:46654034-46654540	MCF-7	breast:	n/a	n/a
38	CEBPB	chr17:46654019-46654438	MCF-7	breast:	n/a	n/a
39	GATA3	chr17:46653888-46654602	MCF-7	breast:	n/a	n/a
40	SIN3AK20	chr17:46654008-46654456	PANC-1	pancreas:	n/a	n/a
41	CEBPB	chr17:46653993-46654359	K562	blood:	n/a	n/a
42	SUZ12	chr17:46653107-46661081	NT2-D1	testis:	n/a	n/a
43	MAZ	chr17:46654025-46656554	K562	blood:	n/a	chr17:46655193-46655203
44	MAZ	chr17:46654003-46655423	IMR90	lung:	n/a	chr17:46655193-46655203
45	EGR1	chr17:46654013-46654426	K562	blood:	n/a	n/a
46	EGR1	chr17:46654020-46654594	ECC-1	luminal epithelium:	n/a	n/a
47	GATA3	chr17:46654022-46654445	T-47D	breast:	n/a	n/a
48	TAF1	chr17:46653885-46655452	K562	blood:	n/a	n/a
49	GATA3	chr17:46653891-46654606	MCF-7	breast:	n/a	n/a
50	EGR1	chr17:46654016-46654395	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:46652243..46654179-chr17:46657727..46659805,2	MCF-7	breast:
2	chr17:46582924..46585539-chr17:46653556..46656243,2	MCF-7	breast:

No data

Variant related genes	Relation type
HOXB3	TF binding region
ENSG00000257178	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833469	chr17:46491849-46709406	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases
2	esv3420538	chr17:46504944-46861553	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	369 gene(s)	inside rSNPs	diseases
3	nsv908577	chr17:46584900-46704536	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	343 gene(s)	inside rSNPs	diseases
4	nsv908578	chr17:46592413-46698710	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	335 gene(s)	inside rSNPs	diseases
5	nsv908579	chr17:46592413-46727289	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases
6	nsv532113	chr17:46598247-47588570	Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	453 gene(s)	inside rSNPs	diseases
7	esv2758459	chr17:46602673-46836837	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	364 gene(s)	inside rSNPs	diseases
8	esv2758694	chr17:46602673-46836837	Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	364 gene(s)	inside rSNPs	diseases
9	nsv908580	chr17:46609103-46698710	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	335 gene(s)	inside rSNPs	diseases
10	nsv908581	chr17:46610646-46735520	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases
11	nsv575480	chr17:46617019-46684929	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
12	nsv908582	chr17:46617019-46698710	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
13	nsv908583	chr17:46617019-46704536	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	342 gene(s)	inside rSNPs	diseases
14	nsv833471	chr17:46617787-46783345	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	356 gene(s)	inside rSNPs	diseases
15	nsv908584	chr17:46618926-46735520	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
16	nsv457822	chr17:46620402-46698710	Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
17	nsv575481	chr17:46620402-46698710	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
18	nsv457823	chr17:46620402-46704536	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	342 gene(s)	inside rSNPs	diseases
19	nsv575482	chr17:46620402-46704536	Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	342 gene(s)	inside rSNPs	diseases
20	nsv457824	chr17:46625519-46693491	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
21	nsv575483	chr17:46625519-46693491	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
22	nsv819832	chr17:46653301-46654188	Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46635000-46654600	Weak transcription	Hela-S3	cervix
2	chr17:46644600-46654200	Weak transcription	Spleen	Spleen
3	chr17:46646400-46654800	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
4	chr17:46648800-46654200	Weak transcription	Primary T cells from cord blood	blood
5	chr17:46648800-46654800	Weak transcription	Gastric	stomach
6	chr17:46650600-46654200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr17:46650600-46655200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
8	chr17:46652800-46654200	Enhancers	A549	lung
9	chr17:46652800-46656000	Bivalent/Poised TSS	NH-A	brain
10	chr17:46653000-46655000	Enhancers	Primary B cells from cord blood	blood
11	chr17:46653000-46655200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr17:46653000-46657200	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr17:46653200-46654200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr17:46653200-46654200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
15	chr17:46653200-46654200	Enhancers	Primary B cells from peripheral blood	blood
16	chr17:46653200-46654200	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr17:46653200-46654200	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
18	chr17:46653200-46654200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr17:46653200-46654200	Bivalent Enhancer	Fetal Muscle Leg	muscle
20	chr17:46653200-46654200	Enhancers	Placenta Amnion	Placenta Amnion
21	chr17:46653200-46654400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
22	chr17:46653200-46654400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr17:46653200-46654400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr17:46653200-46654400	Bivalent Enhancer	Fetal Thymus	thymus
25	chr17:46653200-46654600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr17:46653200-46655400	Bivalent/Poised TSS	Psoas Muscle	Psoas
27	chr17:46653200-46655400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
28	chr17:46653200-46656400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
29	chr17:46653400-46654200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr17:46653400-46654200	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
31	chr17:46653400-46654400	Bivalent Enhancer	Placenta	Placenta
32	chr17:46653400-46655200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
33	chr17:46653400-46660400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
34	chr17:46653600-46654200	Bivalent Enhancer	Liver	Liver
35	chr17:46653600-46654200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
36	chr17:46653600-46654200	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr17:46653600-46654200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
38	chr17:46653600-46654200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
39	chr17:46653600-46654200	Enhancers	GM12878-XiMat	blood
40	chr17:46653600-46654400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
41	chr17:46653600-46654400	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr17:46653600-46655200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr17:46653600-46655600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
44	chr17:46653600-46656400	Active TSS	Lung	lung
45	chr17:46653600-46656400	Active TSS	HSMM	muscle
46	chr17:46653600-46656800	Active TSS	Esophagus	oesophagus
47	chr17:46653600-46657600	Active TSS	Right Atrium	heart
48	chr17:46653600-46660200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr17:46653800-46654200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
50	chr17:46653800-46654200	Enhancers	Primary hematopoietic stem cells	blood

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