Variant report

Variant	rs4793578
Chromosome Location	chr17:46627394-46627395
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:46620117-46628421	PANC-1	pancreas:	n/a	n/a
2	POLR2A	chr17:46616545-46629919	PANC-1	pancreas:	n/a	n/a
3	TCF7L2	chr17:46627382-46627648	PANC-1	pancreas:	n/a	n/a
4	POLR2A	chr17:46627282-46629902	K562	blood:	n/a	n/a
5	POLR2A	chr17:46622500-46628313	K562	blood:	n/a	n/a
6	TAF7	chr17:46627357-46627728	H1-hESC	embryonic stem cell:	n/a	n/a
7	RAD21	chr17:46627225-46628061	IMR90	lung:	n/a	n/a
8	POLR2A	chr17:46627283-46628263	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:46627384-46627434	AG04449	skin:	fetal
2	chr17:46627384-46627434	AG09319	gingival:	n/a
3	chr17:46627384-46627434	HUVEC	blood vessel:	n/a
4	chr17:46627384-46627434	K562	blood:	n/a
5	chr17:46627384-46627434	HRPEpiC	eye:	n/a
6	chr17:46627384-46627434	HRCEpiC	kidney:	n/a
7	chr17:46627384-46627434	SK-N-MC	brain:	n/a
8	chr17:46627384-46627434	HEK293	kidney:	embryo
9	chr17:46627384-46627434	NHBE	bronchial:	n/a
10	chr17:46627384-46627434	GM12892	blood:	n/a
11	chr17:46627384-46627434	GM12878	blood:	n/a
12	chr17:46627384-46627434	HCM	heart:	n/a
13	chr17:46627384-46627434	HL-60	blood:	n/a
14	chr17:46627384-46627434	NH-A	brain:	n/a
15	chr17:46627384-46627434	SK-N-SH_RA	brain:	n/a
16	chr17:46627384-46627434	LNCaP	prostate:	n/a
17	chr17:46627384-46627434	U87	brain:	n/a
18	chr17:46627384-46627434	MCF-7	breast:	n/a
19	chr17:46627384-46627434	GM12891	blood:	n/a
20	chr17:46627384-46627434	AoSMC	blood vessel:	n/a
21	chr17:46627384-46627434	Hela-S3	cervix:	n/a
22	chr17:46627384-46627434	SKMC	muscle:	n/a
23	chr17:46627384-46627434	AG10803	skin:	n/a
24	chr17:46627384-46627434	BJ	skin:	n/a
25	chr17:46627384-46627434	ProgFib	skin:	n/a
26	chr17:46627384-46627434	HPAEpiC	pulmonary alveolar:	n/a
27	chr17:46627384-46627434	HAEpiC	amniotic membrane:	n/a
28	chr17:46627384-46627434	RPTEC	kidney:	n/a
29	chr17:46627384-46627434	HMEC	breast:	n/a
30	chr17:46627384-46627434	BE2_C	brain:	n/a
31	chr17:46627384-46627434	A549	lung:	n/a
32	chr17:46627384-46627434	PrEC	prostate:	n/a
33	chr17:46627384-46627434	NHDF-neo	bronchial:	n/a
34	chr17:46627384-46627434	AG04450	lung:	fetal
35	chr17:46627384-46627434	SK-N-SH	brain:	n/a
36	chr17:46627384-46627434	Caco-2	colon:	n/a
37	chr17:46627384-46627434	HCF	heart:	n/a
38	chr17:46627384-46627434	T-47D	breast:	n/a
39	chr17:46627384-46627434	PANC-1	pancreas:	n/a
40	chr17:46627384-46627434	HIPEpiC	eye:	n/a
41	chr17:46627384-46627434	CMK	blood:	n/a
42	chr17:46627384-46627434	GM19239	blood:	n/a
43	chr17:46627384-46627434	HEEpiC	esophagus:	n/a
44	chr17:46627384-46627434	IMR90	lung:	fetal
45	chr17:46627384-46627434	Jurkat	blood:	n/a
46	chr17:46627384-46627434	NT2-D1	testis:	n/a
47	chr17:46627384-46627434	SAEC	small airway:	n/a
48	chr17:46627384-46627434	GM06990	blood:	n/a
49	chr17:46627384-46627434	PFSK-1	brain:	n/a
50	chr17:46627384-46627434	MCF10A-Er-Src	breast:	n/a

No data

Variant related genes	Relation type
HOXB2	TF binding region
HOXB2	CpG island

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs890430	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 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

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46621200-46629600	Weak transcription	Gastric	stomach
2	chr17:46621600-46628000	Weak transcription	Pancreas	Pancrea
3	chr17:46621600-46634400	Weak transcription	Hela-S3	cervix
4	chr17:46621800-46627600	Weak transcription	Spleen	Spleen
5	chr17:46622800-46627400	Weak transcription	Placenta	Placenta
6	chr17:46623200-46627400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr17:46623800-46630800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
8	chr17:46624000-46629800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
9	chr17:46624400-46627400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr17:46624600-46631600	Weak transcription	Esophagus	oesophagus
11	chr17:46624800-46627400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr17:46625200-46627400	Weak transcription	A549	lung
13	chr17:46625600-46627400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr17:46625600-46627400	Weak transcription	Colonic Mucosa	Colon
15	chr17:46625600-46627400	Bivalent Enhancer	NH-A	brain
16	chr17:46625600-46629600	Weak transcription	GM12878-XiMat	blood
17	chr17:46625600-46630200	Genic enhancers	Fetal Stomach	stomach
18	chr17:46625600-46631600	Weak transcription	Right Atrium	heart
19	chr17:46626000-46627800	Genic enhancers	HSMM	muscle
20	chr17:46626200-46627400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr17:46626200-46627600	Enhancers	Rectal Smooth Muscle	rectum
22	chr17:46626200-46631600	Weak transcription	Aorta	Aorta
23	chr17:46626200-46631800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr17:46626400-46627400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr17:46626400-46627400	Enhancers	Colon Smooth Muscle	Colon
26	chr17:46626400-46627600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
27	chr17:46626400-46627600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
28	chr17:46626400-46627600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr17:46626400-46627600	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr17:46626400-46627800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr17:46626400-46628000	Genic enhancers	NHDF-Ad	bronchial
32	chr17:46626400-46628200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr17:46626400-46629000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr17:46626400-46632200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr17:46626400-46632600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr17:46626400-46633200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr17:46626600-46627600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
38	chr17:46626600-46627800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
39	chr17:46626600-46632400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr17:46626800-46627600	Genic enhancers	Rectal Mucosa Donor 29	rectum
41	chr17:46626800-46627800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr17:46626800-46627800	Genic enhancers	K562	blood
43	chr17:46626800-46628000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
44	chr17:46626800-46628200	Strong transcription	HSMMtube	muscle
45	chr17:46626800-46629600	Strong transcription	Adipose Nuclei	Adipose
46	chr17:46626800-46630200	Weak transcription	Primary hematopoietic stem cells	blood
47	chr17:46626800-46632600	Transcr. at gene 5' and 3'	NHLF	lung
48	chr17:46627000-46627400	Weak transcription	HUVEC	blood vessel
49	chr17:46627000-46627600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr17:46627000-46627600	Strong transcription	Fetal Muscle Trunk	muscle

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