Variant report

Variant	rs2229303
Chromosome Location	chr17:46627945-46627946
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:57)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:57 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SUZ12	chr17:46627753-46629911	NT2-D1	testis:	n/a	n/a
2	POLR2A	chr17:46620117-46628421	PANC-1	pancreas:	n/a	n/a
3	CTCF	chr17:46627820-46627970	AG04450	lung:	n/a	n/a
4	CTCF	chr17:46627840-46627990	SK-N-SH_RA	brain:	n/a	n/a
5	POLR2A	chr17:46616545-46629919	PANC-1	pancreas:	n/a	n/a
6	CTCF	chr17:46627820-46627970	HBMEC	blood vessel:	n/a	n/a
7	CTCF	chr17:46627820-46627970	RPTEC	kidney:	n/a	n/a
8	POLR2A	chr17:46627475-46628022	K562	blood:	n/a	n/a
9	POLR2A	chr17:46627423-46628340	K562	blood:	n/a	n/a
10	CTCF	chr17:46627800-46627950	HMF	breast:	n/a	n/a
11	CCNT2	chr17:46627827-46628115	K562	blood:	n/a	n/a
12	CTCF	chr17:46627840-46627990	AG04449	skin:	n/a	n/a
13	CTCF	chr17:46627740-46627981	HepG2	liver:	n/a	n/a
14	CTCF	chr17:46627702-46627984	K562	blood:	n/a	n/a
15	CTCF	chr17:46627860-46628010	HPF	lung:	n/a	n/a
16	CTCF	chr17:46627800-46627950	HCM	heart:	n/a	n/a
17	CTCF	chr17:46627670-46628085	H1-hESC	embryonic stem cell:	n/a	n/a
18	EGR1	chr17:46627713-46628142	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr17:46627754-46627991	Gliobla	brain:	n/a	n/a
20	CTCF	chr17:46627840-46627990	AG04450	lung:	n/a	n/a
21	CTCF	chr17:46627840-46627990	HPAF	blood vessel:	n/a	n/a
22	RAD21	chr17:46627590-46628076	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr17:46627840-46627990	AG10803	skin:	n/a	n/a
24	POLR2A	chr17:46627282-46629902	K562	blood:	n/a	n/a
25	RAD21	chr17:46627838-46628026	H1-hESC	embryonic stem cell:	n/a	n/a
26	EGR1	chr17:46627746-46628056	K562	blood:	n/a	n/a
27	CTCF	chr17:46627860-46628010	HMEC	breast:	n/a	n/a
28	CTCF	chr17:46627655-46628055	IMR90	lung:	n/a	n/a
29	CTCF	chr17:46627820-46627970	WI-38	lung:	n/a	n/a
30	CTCF	chr17:46627820-46627970	BE2_C	brain:	n/a	n/a
31	CTCF	chr17:46627840-46627990	HRPEpiC	eye:	n/a	n/a
32	CTCF	chr17:46627800-46627950	HBMEC	blood vessel:	n/a	n/a
33	POLR2A	chr17:46622500-46628313	K562	blood:	n/a	n/a
34	CTCF	chr17:46627880-46628030	WI-38	lung:	n/a	n/a
35	CTCF	chr17:46627800-46627950	HEEpiC	esophagus:	n/a	n/a
36	EGR1	chr17:46627735-46628115	K562	blood:	n/a	n/a
37	CTCF	chr17:46627818-46627961	NHEK	skin:	n/a	n/a
38	CTCF	chr17:46627840-46627990	SAEC	small airway:	n/a	n/a
39	SUZ12	chr17:46627501-46628367	H1-hESC	embryonic stem cell:	n/a	n/a
40	TCF12	chr17:46627490-46627971	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr17:46627860-46628010	AG09309	skin:	n/a	n/a
42	RAD21	chr17:46627225-46628061	IMR90	lung:	n/a	n/a
43	CTCF	chr17:46627820-46627970	HRE	kidney:	n/a	n/a
44	CTBP2	chr17:46627591-46628040	H1-hESC	embryonic stem cell:	n/a	n/a
45	HDAC2	chr17:46627728-46628003	K562	blood:	n/a	n/a
46	ZNF143	chr17:46627766-46627966	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr17:46627738-46628004	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr17:46627800-46627950	HepG2	liver:	n/a	n/a
49	CTCF	chr17:46627800-46627950	SK-N-SH_RA	brain:	n/a	n/a
50	POLR2A	chr17:46627283-46628263	K562	blood:	n/a	n/a

No data

Variant related genes	Relation type
HOXB2	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs73985853	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73985857	1.00[AMR][1000 genomes]

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	esv3333737	chr17:46627753-46629651	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 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	chr17:46623800-46630800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
5	chr17:46624000-46629800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
6	chr17:46624600-46631600	Weak transcription	Esophagus	oesophagus
7	chr17:46625600-46629600	Weak transcription	GM12878-XiMat	blood
8	chr17:46625600-46630200	Genic enhancers	Fetal Stomach	stomach
9	chr17:46625600-46631600	Weak transcription	Right Atrium	heart
10	chr17:46626200-46631600	Weak transcription	Aorta	Aorta
11	chr17:46626200-46631800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr17:46626400-46628000	Genic enhancers	NHDF-Ad	bronchial
13	chr17:46626400-46628200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr17:46626400-46629000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr17:46626400-46632200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr17:46626400-46632600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr17:46626400-46633200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr17:46626600-46632400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr17:46626800-46628000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
20	chr17:46626800-46628200	Strong transcription	HSMMtube	muscle
21	chr17:46626800-46629600	Strong transcription	Adipose Nuclei	Adipose
22	chr17:46626800-46630200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr17:46626800-46632600	Transcr. at gene 5' and 3'	NHLF	lung
24	chr17:46627000-46628200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr17:46627000-46628600	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr17:46627000-46628600	Bivalent Enhancer	Fetal Lung	lung
27	chr17:46627000-46630200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr17:46627200-46628200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr17:46627200-46628200	Genic enhancers	Muscle Satellite Cultured Cells	--
30	chr17:46627200-46628400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
31	chr17:46627200-46629800	Strong transcription	Sigmoid Colon	Sigmoid Colon
32	chr17:46627200-46632200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr17:46627400-46628000	Bivalent Enhancer	Fetal Intestine Small	intestine
34	chr17:46627400-46628200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr17:46627400-46628200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr17:46627400-46628200	Bivalent Enhancer	Fetal Intestine Large	intestine
37	chr17:46627400-46628200	Flanking Bivalent TSS/Enh	NH-A	brain
38	chr17:46627400-46628400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr17:46627400-46628400	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
40	chr17:46627400-46629600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr17:46627400-46630200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr17:46627400-46630600	Strong transcription	HUVEC	blood vessel
43	chr17:46627400-46637600	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr17:46627600-46628000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr17:46627600-46628200	Transcr. at gene 5' and 3'	Colon Smooth Muscle	Colon
46	chr17:46627600-46628200	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr17:46627600-46628400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
48	chr17:46627600-46628400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
49	chr17:46627600-46628400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr17:46627600-46628400	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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