Variant report

Variant	rs73985853
Chromosome Location	chr17:46618585-46618586
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:39)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:39 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:46618007-46622747	K562	blood:	n/a	n/a
2	POLR2A	chr17:46616545-46629919	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr17:46616973-46622292	K562	blood:	n/a	n/a
4	POLR2A	chr17:46618264-46620080	K562	blood:	n/a	n/a
5	POLR2A	chr17:46618370-46618700	K562	blood:	n/a	n/a
6	UBTF	chr17:46618433-46622294	K562	blood:	n/a	n/a
7	RAD21	chr17:46618570-46619971	IMR90	lung:	n/a	n/a
8	CTCF	chr17:46618500-46618650	RPTEC	kidney:	n/a	n/a
9	YY1	chr17:46618375-46618616	K562	blood:	n/a	n/a
10	POLR2A	chr17:46618381-46619985	K562	blood:	n/a	n/a
11	UBTF	chr17:46618409-46622293	K562	blood:	n/a	n/a
12	ZMIZ1	chr17:46618488-46619816	K562	blood:	n/a	n/a
13	POLR2A	chr17:46618573-46620047	GM12878	blood:	n/a	n/a
14	SIN3AK20	chr17:46618541-46620002	PANC-1	pancreas:	n/a	n/a
15	TBL1XR1	chr17:46618538-46618824	K562	blood:	n/a	n/a
16	POLR2A	chr17:46618394-46620004	HUVEC	blood vessel:	n/a	n/a
17	POLR2A	chr17:46618296-46623366	K562	blood:	n/a	n/a
18	POU2F2	chr17:46618299-46618640	GM12891	blood:	n/a	n/a
19	POLR2A	chr17:46618228-46620038	U87	brain:	n/a	n/a
20	ZNF143	chr17:46618541-46618739	K562	blood:	n/a	n/a
21	POLR2A	chr17:46618334-46620158	K562	blood:	n/a	n/a
22	POLR2A	chr17:46618249-46620045	K562	blood:	n/a	n/a
23	IRF1	chr17:46618532-46619207	K562	blood:	n/a	chr17:46619090-46619104
24	TEAD4	chr17:46618238-46619958	K562	blood:	n/a	n/a
25	PML	chr17:46618411-46619999	K562	blood:	n/a	n/a
26	NR2F2	chr17:46618266-46619502	K562	blood:	n/a	n/a
27	POLR2A	chr17:46618395-46620084	GM18951	blood:	n/a	n/a
28	POLR2A	chr17:46618383-46620041	K562	blood:	n/a	n/a
29	POLR2A	chr17:46618339-46622203	GM12891	blood:	n/a	n/a
30	POLR2A	chr17:46618236-46620073	U87	brain:	n/a	n/a
31	POLR2A	chr17:46618230-46622806	U87	brain:	n/a	n/a
32	POLR2A	chr17:46618339-46619984	PBDE	blood:	n/a	n/a
33	CHD1	chr17:46618264-46622953	IMR90	lung:	n/a	chr17:46619790-46619800
34	POLR2A	chr17:46618493-46620074	HUVEC	blood vessel:	n/a	n/a
35	CUX1	chr17:46618482-46618847	K562	blood:	n/a	n/a
36	POLR2A	chr17:46618459-46619007	GM12878	blood:	n/a	n/a
37	POLR2A	chr17:46617177-46620098	PANC-1	pancreas:	n/a	n/a
38	POLR2A	chr17:46618485-46620024	HUVEC	blood vessel:	n/a	n/a
39	IRF1	chr17:46618327-46620357	K562	blood:	n/a	chr17:46619788-46619802 chr17:46619090-46619104

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:46618342..46619854-chr17:46690014..46692247,2	K562	blood:
2	chr17:46427006..46429722-chr17:46617606..46619313,2	K562	blood:

No data

Variant related genes	Relation type
HOXB-AS1	TF binding region
ENSG00000120068	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2229303	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73985857	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46615400-46619600	Weak transcription	A549	lung
2	chr17:46617400-46618600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
3	chr17:46617600-46620200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr17:46617800-46618600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr17:46617800-46619000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr17:46618000-46618600	Active TSS	Primary T cells from cord blood	blood
7	chr17:46618000-46618600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr17:46618000-46619000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr17:46618000-46619800	Active TSS	Colon Smooth Muscle	Colon
10	chr17:46618200-46618600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
11	chr17:46618200-46619000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr17:46618200-46619000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
13	chr17:46618200-46619000	Flanking Active TSS	Stomach Smooth Muscle	stomach
14	chr17:46618200-46622400	Active TSS	Rectal Smooth Muscle	rectum
15	chr17:46618400-46618600	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
16	chr17:46618400-46618600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr17:46618400-46618600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr17:46618400-46618600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr17:46618400-46618600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
20	chr17:46618400-46618600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
21	chr17:46618400-46618600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr17:46618400-46618600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
23	chr17:46618400-46618600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
24	chr17:46618400-46618600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
25	chr17:46618400-46618600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
26	chr17:46618400-46618600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr17:46618400-46618600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr17:46618400-46618600	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
29	chr17:46618400-46618600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr17:46618400-46618600	Flanking Bivalent TSS/Enh	Fetal Lung	lung
31	chr17:46618400-46618600	Bivalent Enhancer	Fetal Muscle Leg	muscle
32	chr17:46618400-46618600	Bivalent Enhancer	Fetal Thymus	thymus
33	chr17:46618400-46618600	Flanking Active TSS	Placenta Amnion	Placenta Amnion
34	chr17:46618400-46618600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
35	chr17:46618400-46618600	Active TSS	HSMMtube	muscle
36	chr17:46618400-46618600	Flanking Active TSS	NHLF	lung
37	chr17:46618400-46618800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
38	chr17:46618400-46618800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
39	chr17:46618400-46618800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr17:46618400-46618800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr17:46618400-46618800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
42	chr17:46618400-46618800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
43	chr17:46618400-46618800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
44	chr17:46618400-46618800	Bivalent Enhancer	Brain Germinal Matrix	brain
45	chr17:46618400-46618800	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
46	chr17:46618400-46618800	Flanking Active TSS	Fetal Kidney	kidney
47	chr17:46618400-46618800	Flanking Active TSS	Fetal Muscle Trunk	muscle
48	chr17:46618400-46618800	Flanking Active TSS	K562	blood
49	chr17:46618400-46618800	Flanking Active TSS	NHDF-Ad	bronchial
50	chr17:46618400-46618800	Flanking Active TSS	NHEK	skin

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