Variant report

Variant	rs9896015
Chromosome Location	chr17:46683094-46683095
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:72)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:72 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr17:46682833-46683672	ECC-1	luminal epithelium:	n/a	chr17:46682913-46682922
2	ELK1	chr17:46682234-46683132	Hela-S3	cervix:	n/a	n/a
3	TCF12	chr17:46682558-46683256	ECC-1	luminal epithelium:	n/a	n/a
4	POLR2A	chr17:46681102-46683231	Hela-S3	cervix:	n/a	n/a
5	TBL1XR1	chr17:46682924-46683214	K562	blood:	n/a	n/a
6	MAX	chr17:46679567-46683389	HCT-116	colon:	n/a	chr17:46682913-46682922 chr17:46680035-46680045
7	USF1	chr17:46679728-46683227	HCT-116	colon:	n/a	chr17:46679897-46679913 chr17:46682399-46682410
8	CEBPB	chr17:46681065-46683163	Hela-S3	cervix:	n/a	n/a
9	MAX	chr17:46682917-46683211	K562	blood:	n/a	n/a
10	MAX	chr17:46682708-46683269	ECC-1	luminal epithelium:	n/a	chr17:46682913-46682922
11	UBTF	chr17:46682880-46683133	K562	blood:	n/a	n/a
12	MAX	chr17:46678754-46683315	A549	lung:	n/a	chr17:46682913-46682922 chr17:46680035-46680045
13	RFX5	chr17:46679985-46683161	Hela-S3	cervix:	n/a	n/a
14	TCF12	chr17:46682558-46683266	ECC-1	luminal epithelium:	n/a	n/a
15	MYC	chr17:46682928-46683227	K562	blood:	n/a	n/a
16	RCOR1	chr17:46682895-46683233	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr17:46681074-46683297	HUVEC	blood vessel:	n/a	n/a
18	MAX	chr17:46682231-46683217	Hela-S3	cervix:	n/a	chr17:46682913-46682922
19	ELK4	chr17:46682879-46683185	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr17:46680629-46683289	Hela-S3	cervix:	n/a	n/a
21	MAZ	chr17:46681199-46683119	Hela-S3	cervix:	n/a	chr17:46682913-46682922
22	TBP	chr17:46680455-46683270	Hela-S3	cervix:	n/a	n/a
23	MAX	chr17:46680018-46683250	Hela-S3	cervix:	n/a	chr17:46682913-46682922 chr17:46680035-46680045
24	EP300	chr17:46682721-46683263	ECC-1	luminal epithelium:	n/a	n/a
25	TAF1	chr17:46682890-46683208	Hela-S3	cervix:	n/a	n/a
26	MAX	chr17:46682675-46683250	K562	blood:	n/a	chr17:46682913-46682922
27	POLR2A	chr17:46680931-46683223	Hela-S3	cervix:	n/a	n/a
28	SUZ12	chr17:46682676-46683104	H1-hESC	embryonic stem cell:	n/a	n/a
29	BCL3	chr17:46679714-46683211	A549	lung:	n/a	chr17:46682570-46682579 chr17:46682571-46682580
30	MXI1	chr17:46682892-46683151	Hela-S3	cervix:	n/a	n/a
31	JUND	chr17:46682830-46683172	K562	blood:	n/a	n/a
32	NFIC	chr17:46682664-46683211	ECC-1	luminal epithelium:	n/a	chr17:46682969-46682986 chr17:46682970-46682986
33	SIN3AK20	chr17:46680927-46683261	PANC-1	pancreas:	n/a	n/a
34	MAX	chr17:46682968-46683227	K562	blood:	n/a	n/a
35	E2F6	chr17:46682894-46683137	K562	blood:	n/a	chr17:46683057-46683068 chr17:46683058-46683070
36	RCOR1	chr17:46682099-46683203	K562	blood:	n/a	n/a
37	NFIC	chr17:46682595-46683348	ECC-1	luminal epithelium:	n/a	chr17:46682969-46682986 chr17:46682970-46682986
38	POLR2A	chr17:46681229-46683202	Hela-S3	cervix:	n/a	n/a
39	ZKSCAN1	chr17:46682623-46683198	Hela-S3	cervix:	n/a	n/a
40	YY1	chr17:46682344-46683111	ECC-1	luminal epithelium:	n/a	chr17:46682535-46682545
41	HDAC2	chr17:46682929-46683140	K562	blood:	n/a	n/a
42	EP300	chr17:46682891-46683106	K562	blood:	n/a	n/a
43	REST	chr17:46682891-46683155	K562	blood:	n/a	n/a
44	POLR2A	chr17:46681042-46683164	K562	blood:	n/a	n/a
45	POLR2A	chr17:46682079-46683154	HCT-116	colon:	n/a	n/a
46	TEAD4	chr17:46682659-46683202	ECC-1	luminal epithelium:	n/a	n/a
47	TCF7L2	chr17:46681961-46683163	PANC-1	pancreas:	n/a	n/a
48	GTF2F1	chr17:46679997-46683169	Hela-S3	cervix:	n/a	n/a
49	EP300	chr17:46682169-46683376	ECC-1	luminal epithelium:	n/a	chr17:46682410-46682419
50	CHD2	chr17:46681052-46683270	Hela-S3	cervix:	n/a	chr17:46681752-46681762

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:46683047-46683097	ovcar-3	ovarian:	n/a
2	chr17:46683047-46683097	BE2_C	brain:	n/a
3	chr17:46683047-46683097	HCM	heart:	n/a
4	chr17:46683047-46683097	HCPEpiC	choroid plexus:	n/a
5	chr17:46683047-46683097	SKMC	muscle:	n/a
6	chr17:46683047-46683097	NH-A	brain:	n/a
7	chr17:46683047-46683097	MCF-7	breast:	n/a
8	chr17:46683047-46683097	ECC-1	luminal epithelium:	n/a
9	chr17:46683047-46683097	HL-60	blood:	n/a
10	chr17:46683047-46683097	HIPEpiC	eye:	n/a
11	chr17:46683047-46683097	BJ	skin:	n/a
12	chr17:46683047-46683097	Caco-2	colon:	n/a
13	chr17:46683047-46683097	SAEC	small airway:	n/a
14	chr17:46683047-46683097	AG04449	skin:	fetal
15	chr17:46683047-46683097	GM12891	blood:	n/a
16	chr17:46683047-46683097	GM12878	blood:	n/a
17	chr17:46683047-46683097	SK-N-MC	brain:	n/a
18	chr17:46683047-46683097	HRCEpiC	kidney:	n/a
19	chr17:46683047-46683097	AG09309	skin:	n/a
20	chr17:46683047-46683097	MCF10A-Er-Src	breast:	n/a
21	chr17:46683047-46683097	PANC-1	pancreas:	n/a
22	chr17:46683047-46683097	HEK293	kidney:	embryo
23	chr17:46683047-46683097	HUVEC	blood vessel:	n/a
24	chr17:46683047-46683097	HAEpiC	amniotic membrane:	n/a
25	chr17:46683047-46683097	GM12892	blood:	n/a
26	chr17:46683047-46683097	AoSMC	blood vessel:	n/a
27	chr17:46683047-46683097	Hepatocyte	liver:	n/a
28	chr17:46683047-46683097	GM19239	blood:	n/a
29	chr17:46683047-46683097	PFSK-1	brain:	n/a
30	chr17:46683047-46683097	SK-N-SH_RA	brain:	n/a
31	chr17:46683047-46683097	HRPEpiC	eye:	n/a
32	chr17:46683047-46683097	IMR90	lung:	fetal
33	chr17:46683047-46683097	PrEC	prostate:	n/a
34	chr17:46683047-46683097	Hela-S3	cervix:	n/a
35	chr17:46683047-46683097	RPTEC	kidney:	n/a
36	chr17:46683047-46683097	AG04450	lung:	fetal
37	chr17:46683047-46683097	AG10803	skin:	n/a
38	chr17:46683047-46683097	HPAEpiC	pulmonary alveolar:	n/a
39	chr17:46683047-46683097	HRE	kidney:	n/a
40	chr17:46683047-46683097	HNPCEpiC	eye:	n/a
41	chr17:46683047-46683097	ProgFib	skin:	n/a
42	chr17:46683047-46683097	NHBE	bronchial:	n/a
43	chr17:46683047-46683097	LNCaP	prostate:	n/a
44	chr17:46683047-46683097	NT2-D1	testis:	n/a
45	chr17:46683047-46683097	HepG2	liver:	n/a
46	chr17:46683047-46683097	CMK	blood:	n/a
47	chr17:46683047-46683097	HMEC	breast:	n/a
48	chr17:46683047-46683097	SK-N-SH	brain:	n/a
49	chr17:46683047-46683097	K562	blood:	n/a
50	chr17:46683047-46683097	H1-hESC	embryonic stem cell:	embryo

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:46622432..46624034-chr17:46681830..46683830,2	K562	blood:
2	chr17:46675371..46683952-chr17:46685648..46690575,16	MCF-7	breast:
3	chr17:46662731..46663402-chr17:46682480..46683122,2	K562	blood:
4	chr17:46679267..46681075-chr17:46682371..46684611,3	MCF-7	breast:

No data

Variant related genes	Relation type
HOXB6	TF binding region
HOXB3	TF binding region
HOXB3	CpG island
HOXB6	CpG island
ENSG00000233101	Chromatin interaction
ENSG00000230148	Chromatin interaction
ENSG00000173917	Chromatin interaction
ENSG00000260027	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12939324	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12952262	0.91[EUR][1000 genomes]
rs1529334	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28575348	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3087996	0.80[EUR][1000 genomes]
rs4646993	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4793951	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9909884	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9912500	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9896015	HOXB2	cis	Whole Blood	GTEx

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46677400-46684000	Active TSS	Fetal Kidney	kidney
2	chr17:46681200-46686000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr17:46681800-46684600	Active TSS	Colonic Mucosa	Colon
4	chr17:46681800-46686400	Weak transcription	GM12878-XiMat	blood
5	chr17:46682200-46683200	Flanking Active TSS	Adipose Nuclei	Adipose
6	chr17:46682200-46683200	Flanking Active TSS	HUVEC	blood vessel
7	chr17:46682400-46683200	Flanking Active TSS	A549	lung
8	chr17:46682400-46683400	Weak transcription	NHLF	lung
9	chr17:46682400-46684400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr17:46682600-46683200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr17:46682600-46683400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr17:46682600-46683600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr17:46682600-46683600	Flanking Active TSS	Hela-S3	cervix
14	chr17:46682800-46686600	Weak transcription	HSMMtube	muscle
15	chr17:46683000-46683200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr17:46683000-46683200	Enhancers	Muscle Satellite Cultured Cells	--
17	chr17:46683000-46683200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr17:46683000-46683200	Active TSS	Colon Smooth Muscle	Colon
19	chr17:46683000-46683200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
20	chr17:46683000-46683200	Bivalent Enhancer	Fetal Intestine Small	intestine
21	chr17:46683000-46683200	Enhancers	HSMM	muscle
22	chr17:46683000-46683200	Enhancers	K562	blood
23	chr17:46683000-46683400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr17:46683000-46683400	Bivalent Enhancer	Fetal Intestine Large	intestine
25	chr17:46683000-46683800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr17:46683000-46683800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr17:46683000-46684000	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr17:46683000-46684000	Enhancers	NHDF-Ad	bronchial
29	chr17:46683000-46686400	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr17:46683000-46686600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr17:46683000-46686600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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