Variant report

Variant	rs11652860
Chromosome Location	chr17:46632679-46632680
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr17:46632282-46632960	H1-hESC	embryonic stem cell:	n/a	chr17:46632316-46632333 chr17:46632318-46632340 chr17:46632318-46632328
2	POLR2A	chr17:46632586-46633716	K562	blood:	n/a	n/a
3	CTCF	chr17:46632675-46632759	Pancreas_OC	pancreas:	n/a	n/a
4	BCL3	chr17:46631961-46632986	A549	lung:	n/a	chr17:46632489-46632498
5	POLR2A	chr17:46632623-46633515	K562	blood:	n/a	n/a
6	TBP	chr17:46632613-46633026	K562	blood:	n/a	n/a
7	MAZ	chr17:46632574-46633562	K562	blood:	n/a	chr17:46633149-46633159
8	FOSL1	chr17:46632608-46632998	K562	blood:	n/a	n/a
9	CTCF	chr17:46632650-46632782	Fibrobl	skin:	n/a	n/a
10	CHD1	chr17:46628704-46638012	IMR90	lung:	n/a	chr17:46633605-46633615
11	TAF1	chr17:46632528-46632985	K562	blood:	n/a	n/a
12	ARID3A	chr17:46632641-46632998	K562	blood:	n/a	n/a
13	EP300	chr17:46632527-46633561	K562	blood:	n/a	chr17:46633222-46633238 chr17:46633486-46633500
14	CTCF	chr17:46632646-46632777	Lung_OC	lung:	n/a	n/a
15	MAX	chr17:46632648-46632943	K562	blood:	n/a	n/a
16	ZNF384	chr17:46632613-46634142	K562	blood:	n/a	n/a
17	TCF12	chr17:46631503-46633528	A549	lung:	n/a	n/a
18	SP1	chr17:46631588-46633437	A549	lung:	n/a	chr17:46632272-46632281 chr17:46633155-46633164 chr17:46633376-46633390 chr17:46633155-46633165 chr17:46633145-46633159 chr17:46633151-46633165
19	SIN3AK20	chr17:46631741-46633001	PANC-1	pancreas:	n/a	n/a
20	TRIM28	chr17:46632506-46633019	K562	blood:	n/a	n/a
21	POLR2A	chr17:46629941-46645329	PANC-1	pancreas:	n/a	n/a
22	MYC	chr17:46632639-46633483	K562	blood:	n/a	chr17:46633149-46633159
23	BHLHE40	chr17:46632666-46632955	K562	blood:	n/a	n/a
24	POLR2A	chr17:46632541-46632939	HUVEC	blood vessel:	n/a	n/a
25	EP300	chr17:46631999-46632981	A549	lung:	n/a	n/a
26	POLR2A	chr17:46632630-46633006	K562	blood:	n/a	n/a
27	ELF1	chr17:46632435-46632904	K562	blood:	n/a	chr17:46632666-46632679
28	CTCF	chr17:46632626-46632817	IMR90	lung:	n/a	n/a
29	POLR2A	chr17:46631632-46632984	U87	brain:	n/a	n/a
30	MAX	chr17:46632561-46633013	K562	blood:	n/a	n/a
31	CEBPB	chr17:46632569-46633027	A549	lung:	n/a	n/a
32	SP1	chr17:46632386-46633031	K562	blood:	n/a	n/a
33	TAF1	chr17:46632535-46632977	K562	blood:	n/a	n/a
34	MYC	chr17:46632653-46632949	K562	blood:	n/a	n/a
35	SIN3AK20	chr17:46632578-46632970	A549	lung:	n/a	n/a
36	MAX	chr17:46631100-46633583	A549	lung:	n/a	chr17:46633149-46633159
37	ZZZ3	chr17:46632581-46632875	GM12878	blood:	n/a	n/a
38	HEY1	chr17:46632642-46633511	K562	blood:	n/a	n/a
39	TEAD4	chr17:46632493-46632964	K562	blood:	n/a	n/a
40	RCOR1	chr17:46632585-46633541	K562	blood:	n/a	n/a
41	ATF3	chr17:46632522-46632955	K562	blood:	n/a	n/a
42	USF1	chr17:46632562-46632962	K562	blood:	n/a	n/a
43	HMGN3	chr17:46632678-46632871	K562	blood:	n/a	n/a
44	RAD21	chr17:46632571-46632704	K562	blood:	n/a	n/a
45	EGR1	chr17:46632510-46633229	K562	blood:	n/a	chr17:46633149-46633164 chr17:46633156-46633169
46	GATA3	chr17:46632566-46633052	MCF-7	breast:	n/a	n/a
47	BCL3	chr17:46632553-46633004	A549	lung:	n/a	n/a
48	CEBPD	chr17:46632591-46633038	K562	blood:	n/a	n/a
49	NR2F2	chr17:46632234-46633100	K562	blood:	n/a	n/a
50	MAX	chr17:46631338-46633029	A549	lung:	n/a	n/a

Variant related genes	Relation type
HOXB-AS2	TF binding region
HOXB3	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs2555111	0.84[AFR][1000 genomes]
rs2740760	0.83[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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11652860	HOXB2	cis	Whole Blood	GTEx
rs11652860	HOXB-AS1	cis	Whole Blood	GTEx

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46621600-46634400	Weak transcription	Hela-S3	cervix
2	chr17:46626400-46633200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr17:46627400-46637600	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr17:46628400-46634600	Weak transcription	Spleen	Spleen
5	chr17:46629400-46633400	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr17:46630200-46632800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr17:46630400-46633200	Weak transcription	GM12878-XiMat	blood
8	chr17:46630800-46632800	Active TSS	HSMM	muscle
9	chr17:46631200-46633400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr17:46631400-46634600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
11	chr17:46631600-46633200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
12	chr17:46631600-46633400	Active TSS	Aorta	Aorta
13	chr17:46631600-46633400	Active TSS	Colon Smooth Muscle	Colon
14	chr17:46631600-46633400	Active TSS	Esophagus	oesophagus
15	chr17:46631600-46633400	Active TSS	A549	lung
16	chr17:46631600-46633600	Active TSS	Fetal Kidney	kidney
17	chr17:46631600-46633800	Active TSS	Right Atrium	heart
18	chr17:46631800-46632800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr17:46631800-46633000	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr17:46631800-46633000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr17:46631800-46633000	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr17:46631800-46633200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
23	chr17:46631800-46633200	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
24	chr17:46631800-46633200	Bivalent Enhancer	Fetal Thymus	thymus
25	chr17:46631800-46633400	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr17:46632000-46632800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr17:46632000-46632800	Bivalent/Poised TSS	Fetal Lung	lung
28	chr17:46632000-46633000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr17:46632000-46633200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr17:46632000-46633200	Active TSS	Placenta Amnion	Placenta Amnion
31	chr17:46632000-46633200	Active TSS	Psoas Muscle	Psoas
32	chr17:46632000-46633200	Active TSS	Rectal Mucosa Donor 31	rectum
33	chr17:46632000-46633200	Active TSS	Rectal Smooth Muscle	rectum
34	chr17:46632000-46633400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr17:46632000-46633400	Active TSS	Right Ventricle	heart
36	chr17:46632200-46632800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr17:46632200-46633200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr17:46632200-46633200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr17:46632200-46633200	Active TSS	Colonic Mucosa	Colon
40	chr17:46632200-46633200	Active TSS	HMEC	breast
41	chr17:46632200-46633200	Enhancers	HUVEC	blood vessel
42	chr17:46632200-46633400	Bivalent/Poised TSS	Left Ventricle	heart
43	chr17:46632400-46632800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
44	chr17:46632400-46632800	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr17:46632400-46633200	Active TSS	NHDF-Ad	bronchial
46	chr17:46632400-46633400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr17:46632400-46633600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr17:46632400-46634800	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr17:46632600-46632800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr17:46632600-46632800	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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