Variant report

Variant	rs561618464
Chromosome Location	chr17:46653649-46653650
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:29 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:46652847-46653815	HUVEC	blood vessel:	n/a	n/a
2	TEAD4	chr17:46653038-46653840	K562	blood:	n/a	n/a
3	POLR2A	chr17:46652243-46653986	K562	blood:	n/a	n/a
4	POLR2A	chr17:46652443-46656956	K562	blood:	n/a	n/a
5	POLR2A	chr17:46645800-46653979	PANC-1	pancreas:	n/a	n/a
6	CHD1	chr17:46641810-46654030	IMR90	lung:	n/a	n/a
7	UBTF	chr17:46653085-46653801	K562	blood:	n/a	n/a
8	MYC	chr17:46653562-46653664	K562	blood:	n/a	n/a
9	UBTF	chr17:46653224-46653791	K562	blood:	n/a	n/a
10	POLR2A	chr17:46652999-46653806	K562	blood:	n/a	n/a
11	MEF2A	chr17:46653638-46654041	K562	blood:	n/a	n/a
12	SIN3AK20	chr17:46653006-46653866	PANC-1	pancreas:	n/a	n/a
13	HEY1	chr17:46653275-46653809	K562	blood:	n/a	n/a
14	SUZ12	chr17:46653107-46661081	NT2-D1	testis:	n/a	n/a
15	POLR2A	chr17:46652830-46653816	IMR90	lung:	n/a	n/a
16	ZC3H11A	chr17:46653609-46653681	K562	blood:	n/a	n/a
17	TBL1XR1	chr17:46653505-46653751	K562	blood:	n/a	n/a
18	TBL1XR1	chr17:46653525-46653717	K562	blood:	n/a	n/a
19	MAX	chr17:46653436-46653793	K562	blood:	n/a	n/a
20	POLR2A	chr17:46653056-46653736	K562	blood:	n/a	n/a
21	POLR2A	chr17:46652972-46653802	HUVEC	blood vessel:	n/a	n/a
22	TBP	chr17:46653531-46653669	K562	blood:	n/a	n/a
23	POLR2A	chr17:46653032-46653871	K562	blood:	n/a	n/a
24	SUZ12	chr17:46653203-46653793	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr17:46650582-46653838	K562	blood:	n/a	n/a
26	POLR2A	chr17:46653405-46653682	HUVEC	blood vessel:	n/a	n/a
27	MAFK	chr17:46653643-46653660	K562	blood:	n/a	n/a
28	POLR2A	chr17:46645331-46684907	PANC-1	pancreas:	n/a	n/a
29	YY1	chr17:46653404-46653783	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:46653615-46653665	HEEpiC	esophagus:	n/a
2	chr17:46653615-46653665	T-47D	breast:	n/a
3	chr17:46653615-46653665	HCT-116	colon:	n/a
4	chr17:46653615-46653665	CMK	blood:	n/a
5	chr17:46653615-46653665	SK-N-SH_RA	brain:	n/a
6	chr17:46653615-46653665	MCF10A-Er-Src	breast:	n/a
7	chr17:46653615-46653665	SKMC	muscle:	n/a
8	chr17:46653615-46653665	HepG2	liver:	n/a
9	chr17:46653615-46653665	ECC-1	luminal epithelium:	n/a
10	chr17:46653615-46653665	GM06990	blood:	n/a
11	chr17:46653615-46653665	SK-N-MC	brain:	n/a
12	chr17:46653615-46653665	HRE	kidney:	n/a
13	chr17:46653615-46653665	BE2_C	brain:	n/a
14	chr17:46653615-46653665	AG09309	skin:	n/a
15	chr17:46653615-46653665	NHDF-neo	bronchial:	n/a
16	chr17:46653615-46653665	HIPEpiC	eye:	n/a
17	chr17:46653615-46653665	NB4	blood:	n/a
18	chr17:46653615-46653665	HPAEpiC	pulmonary alveolar:	n/a
19	chr17:46653615-46653665	ProgFib	skin:	n/a
20	chr17:46653615-46653665	ovcar-3	ovarian:	n/a
21	chr17:46653615-46653665	A549	lung:	n/a
22	chr17:46653615-46653665	HRCEpiC	kidney:	n/a
23	chr17:46653615-46653665	NH-A	brain:	n/a
24	chr17:46653615-46653665	AoSMC	blood vessel:	n/a
25	chr17:46653615-46653665	U87	brain:	n/a
26	chr17:46653615-46653665	Hela-S3	cervix:	n/a
27	chr17:46653615-46653665	HNPCEpiC	eye:	n/a
28	chr17:46653615-46653665	HMEC	breast:	n/a
29	chr17:46653615-46653665	SK-N-SH	brain:	n/a
30	chr17:46653615-46653665	LNCaP	prostate:	n/a
31	chr17:46653615-46653665	AG10803	skin:	n/a
32	chr17:46653615-46653665	H1-hESC	embryonic stem cell:	embryo
33	chr17:46653615-46653665	HEK293	kidney:	embryo
34	chr17:46653615-46653665	HRPEpiC	eye:	n/a
35	chr17:46653615-46653665	HCPEpiC	choroid plexus:	n/a
36	chr17:46653615-46653665	Jurkat	blood:	n/a
37	chr17:46653615-46653665	PFSK-1	brain:	n/a
38	chr17:46653615-46653665	K562	blood:	n/a
39	chr17:46653615-46653665	GM12892	blood:	n/a
40	chr17:46653615-46653665	AG04450	lung:	fetal
41	chr17:46653615-46653665	HL-60	blood:	n/a
42	chr17:46653615-46653665	AG09319	gingival:	n/a
43	chr17:46653615-46653665	GM12891	blood:	n/a
44	chr17:46653615-46653665	HUVEC	blood vessel:	n/a
45	chr17:46653615-46653665	HCM	heart:	n/a
46	chr17:46653615-46653665	Hepatocyte	liver:	n/a
47	chr17:46653615-46653665	BJ	skin:	n/a
48	chr17:46653615-46653665	PANC-1	pancreas:	n/a
49	chr17:46653615-46653665	SAEC	small airway:	n/a
50	chr17:46653615-46653665	MCF-7	breast:	n/a

(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
HOXB3	CpG island
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:83 , 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	chr17:46650600-46653800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr17:46650600-46654000	Flanking Active TSS	HUVEC	blood vessel
8	chr17:46650600-46654200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr17:46650600-46655200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
10	chr17:46651600-46653800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr17:46652000-46654000	Flanking Active TSS	Stomach Smooth Muscle	stomach
12	chr17:46652400-46654000	Enhancers	HSMMtube	muscle
13	chr17:46652600-46654000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr17:46652600-46654000	Weak transcription	Aorta	Aorta
15	chr17:46652800-46653800	Transcr. at gene 5' and 3'	NHLF	lung
16	chr17:46652800-46654200	Enhancers	A549	lung
17	chr17:46652800-46656000	Bivalent/Poised TSS	NH-A	brain
18	chr17:46653000-46653800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr17:46653000-46653800	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr17:46653000-46653800	Transcr. at gene 5' and 3'	Fetal Kidney	kidney
21	chr17:46653000-46655000	Enhancers	Primary B cells from cord blood	blood
22	chr17:46653000-46655200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr17:46653000-46657200	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr17:46653200-46653800	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr17:46653200-46653800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr17:46653200-46653800	Flanking Active TSS	Colonic Mucosa	Colon
27	chr17:46653200-46653800	Flanking Active TSS	Colon Smooth Muscle	Colon
28	chr17:46653200-46653800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
29	chr17:46653200-46653800	Flanking Bivalent TSS/Enh	Fetal Lung	lung
30	chr17:46653200-46653800	Transcr. at gene 5' and 3'	Rectal Smooth Muscle	rectum
31	chr17:46653200-46653800	Genic enhancers	Sigmoid Colon	Sigmoid Colon
32	chr17:46653200-46654000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr17:46653200-46654200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr17:46653200-46654200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
35	chr17:46653200-46654200	Enhancers	Primary B cells from peripheral blood	blood
36	chr17:46653200-46654200	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr17:46653200-46654200	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
38	chr17:46653200-46654200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr17:46653200-46654200	Bivalent Enhancer	Fetal Muscle Leg	muscle
40	chr17:46653200-46654200	Enhancers	Placenta Amnion	Placenta Amnion
41	chr17:46653200-46654400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
42	chr17:46653200-46654400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr17:46653200-46654400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr17:46653200-46654400	Bivalent Enhancer	Fetal Thymus	thymus
45	chr17:46653200-46654600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr17:46653200-46655400	Bivalent/Poised TSS	Psoas Muscle	Psoas
47	chr17:46653200-46655400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
48	chr17:46653200-46656400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
49	chr17:46653400-46653800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
50	chr17:46653400-46653800	Flanking Active TSS	Primary hematopoietic stem cells	blood

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