Variant report

Variant	rs11650389
Chromosome Location	chr17:46621668-46621669
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:66)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:66 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF1	chr17:46620173-46622395	K562	blood:	n/a	n/a
2	MYC	chr17:46621611-46621708	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr17:46620117-46628421	PANC-1	pancreas:	n/a	n/a
4	POLR2A	chr17:46618007-46622747	K562	blood:	n/a	n/a
5	RELA	chr17:46620573-46622055	GM15510	blood:	n/a	n/a
6	POLR2A	chr17:46616545-46629919	PANC-1	pancreas:	n/a	n/a
7	SUZ12	chr17:46620315-46621889	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr17:46621367-46622732	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr17:46616973-46622292	K562	blood:	n/a	n/a
10	YY1	chr17:46621613-46622079	GM12878	blood:	n/a	n/a
11	TBP	chr17:46620883-46622597	K562	blood:	n/a	n/a
12	TBP	chr17:46620467-46621863	GM12878	blood:	n/a	n/a
13	POLR2A	chr17:46620588-46621673	K562	blood:	n/a	n/a
14	UBTF	chr17:46618433-46622294	K562	blood:	n/a	n/a
15	CTCF	chr17:46621540-46621690	HCM	heart:	n/a	n/a
16	ARID3A	chr17:46621466-46621673	K562	blood:	n/a	n/a
17	POLR2A	chr17:46621627-46622255	HUVEC	blood vessel:	n/a	n/a
18	YY1	chr17:46621594-46622301	K562	blood:	n/a	n/a
19	POLR2A	chr17:46620344-46622195	GM18526	blood:	n/a	n/a
20	UBTF	chr17:46618409-46622293	K562	blood:	n/a	n/a
21	POLR2A	chr17:46620306-46622275	GM19193	blood:	n/a	n/a
22	POLR2A	chr17:46620403-46622760	K562	blood:	n/a	n/a
23	POLR2A	chr17:46620220-46622735	K562	blood:	n/a	n/a
24	POLR2A	chr17:46620305-46622155	GM12878	blood:	n/a	n/a
25	TAF1	chr17:46621605-46621949	SK-N-SH	brain:	n/a	n/a
26	MAZ	chr17:46620510-46622186	GM12878	blood:	n/a	chr17:46621225-46621235
27	POLR2A	chr17:46620079-46622806	U87	brain:	n/a	n/a
28	POLR2A	chr17:46620299-46626078	K562	blood:	n/a	n/a
29	POLR2A	chr17:46620207-46622131	U87	brain:	n/a	n/a
30	POLR2A	chr17:46618296-46623366	K562	blood:	n/a	n/a
31	POLR2A	chr17:46620207-46622252	U87	brain:	n/a	n/a
32	CHD1	chr17:46619679-46622065	GM12878	blood:	n/a	chr17:46619790-46619800
33	ZNF384	chr17:46621540-46622225	K562	blood:	n/a	n/a
34	ZNF384	chr17:46621583-46621994	GM12878	blood:	n/a	n/a
35	POLR2A	chr17:46620331-46622280	GM18951	blood:	n/a	n/a
36	RAD21	chr17:46621526-46622216	IMR90	lung:	n/a	n/a
37	EP300	chr17:46621619-46621818	K562	blood:	n/a	n/a
38	POLR2A	chr17:46621655-46622163	GM12878	blood:	n/a	n/a
39	MYC	chr17:46620896-46622352	K562	blood:	n/a	chr17:46621225-46621235 chr17:46622336-46622346
40	POLR2A	chr17:46620266-46621963	PBDE	blood:	n/a	n/a
41	POLR2A	chr17:46620425-46622704	K562	blood:	n/a	n/a
42	ZNF143	chr17:46621664-46621834	K562	blood:	n/a	n/a
43	WRNIP1	chr17:46621416-46621832	GM12878	blood:	n/a	n/a
44	POLR2A	chr17:46621078-46622909	HUVEC	blood vessel:	n/a	n/a
45	IRF1	chr17:46621018-46621674	K562	blood:	n/a	chr17:46621220-46621234 chr17:46621343-46621357
46	POLR2A	chr17:46621668-46622014	GM12878	blood:	n/a	n/a
47	TBL1XR1	chr17:46621397-46622684	K562	blood:	n/a	n/a
48	MAZ	chr17:46620480-46623291	IMR90	lung:	n/a	chr17:46621225-46621235 chr17:46622336-46622346
49	SUZ12	chr17:46620366-46622061	NT2-D1	testis:	n/a	n/a
50	POLR2A	chr17:46618339-46622203	GM12891	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:46618868..46624573-chr17:46700689..46705978,10	K562	blood:
2	chr17:46621559..46624647-chr17:46668034..46670671,3	K562	blood:

No data

Variant related genes	Relation type
HOXB-AS1	TF binding region
HOXB2	TF binding region
ENSG00000170689	Chromatin interaction
ENSG00000233101	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11651053	0.87[EUR][1000 genomes]
rs11652654	1.00[EUR][1000 genomes]
rs11653539	1.00[EUR][1000 genomes]
rs11653644	1.00[EUR][1000 genomes]
rs11655171	1.00[EUR][1000 genomes]
rs11655546	1.00[EUR][1000 genomes]
rs11657206	1.00[EUR][1000 genomes]
rs2740759	0.87[EUR][1000 genomes]
rs59709353	1.00[EUR][1000 genomes]
rs73985866	0.87[EUR][1000 genomes]
rs8065730	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 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

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46618200-46622400	Active TSS	Rectal Smooth Muscle	rectum
2	chr17:46618400-46622000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
3	chr17:46618400-46622400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
4	chr17:46618400-46622400	Bivalent/Poised TSS	Thymus	Thymus
5	chr17:46618400-46622600	Active TSS	Right Atrium	heart
6	chr17:46618400-46622600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
7	chr17:46618600-46622200	Active TSS	Esophagus	oesophagus
8	chr17:46618600-46622200	Bivalent/Poised TSS	GM12878-XiMat	blood
9	chr17:46618600-46622400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
10	chr17:46618600-46622400	Active TSS	Aorta	Aorta
11	chr17:46618600-46622400	Active TSS	Placenta Amnion	Placenta Amnion
12	chr17:46618600-46622600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr17:46618600-46622600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr17:46618600-46622600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr17:46618600-46622600	Bivalent/Poised TSS	Fetal Lung	lung
16	chr17:46618800-46621800	Bivalent/Poised TSS	Left Ventricle	heart
17	chr17:46618800-46622000	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
18	chr17:46618800-46622200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
19	chr17:46618800-46622600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
20	chr17:46618800-46622600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
21	chr17:46618800-46622600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
22	chr17:46618800-46622600	Active TSS	Fetal Kidney	kidney
23	chr17:46618800-46622600	Active TSS	K562	blood
24	chr17:46618800-46622600	Active TSS	NHDF-Ad	bronchial
25	chr17:46618800-46623000	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr17:46618800-46625600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr17:46619000-46622000	Active TSS	Sigmoid Colon	Sigmoid Colon
28	chr17:46619000-46622400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr17:46619000-46622400	Active TSS	Primary T cells from cord blood	blood
30	chr17:46619000-46622400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
31	chr17:46619000-46622400	Active TSS	Stomach Smooth Muscle	stomach
32	chr17:46619000-46622600	Active TSS	HMEC	breast
33	chr17:46619000-46622600	Active TSS	HSMM	muscle
34	chr17:46619000-46622600	Active TSS	HSMMtube	muscle
35	chr17:46619000-46622600	Bivalent/Poised TSS	Osteobl	bone
36	chr17:46619400-46622200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr17:46619400-46622200	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
38	chr17:46619800-46622000	Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr17:46619800-46622600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr17:46620000-46622200	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
41	chr17:46620000-46622400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr17:46620000-46622400	Active TSS	Fetal Muscle Trunk	muscle
43	chr17:46620000-46622400	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
44	chr17:46620000-46622400	Active TSS	HUVEC	blood vessel
45	chr17:46620200-46622400	Bivalent Enhancer	Fetal Brain Male	brain
46	chr17:46620400-46621800	Flanking Active TSS	Primary B cells from cord blood	blood
47	chr17:46620600-46622000	Active TSS	Primary T killer memory cells from peripheral blood	blood
48	chr17:46620600-46622000	Active TSS	Rectal Mucosa Donor 31	rectum
49	chr17:46620600-46622200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr17:46620600-46622200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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