Variant report

Variant	rs9893509
Chromosome Location	chr17:46704041-46704042
allele	C/T
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	JUND	chr17:46702318-46704349	A549	lung:	n/a	chr17:46702705-46702719 chr17:46702793-46702807 chr17:46702634-46702648 chr17:46703061-46703070
2	SIN3AK20	chr17:46703759-46704103	A549	lung:	n/a	n/a
3	MYC	chr17:46703285-46704132	K562	blood:	n/a	chr17:46703964-46703973 chr17:46703749-46703759
4	IRF1	chr17:46702828-46704459	K562	blood:	n/a	chr17:46703056-46703070 chr17:46703018-46703031
5	EGR1	chr17:46703971-46704199	GM12878	blood:	n/a	chr17:46704081-46704095 chr17:46704095-46704109 chr17:46704083-46704093 chr17:46704079-46704089 chr17:46704080-46704093 chr17:46704080-46704094 chr17:46704080-46704093 chr17:46704079-46704094 chr17:46704080-46704093 chr17:46704083-46704092
6	POLR2A	chr17:46701823-46705617	K562	blood:	n/a	n/a
7	POLR2A	chr17:46703778-46704290	A549	lung:	n/a	n/a
8	CEBPB	chr17:46703639-46704301	A549	lung:	n/a	n/a
9	RCOR1	chr17:46703541-46704868	K562	blood:	n/a	n/a
10	MYC	chr17:46703253-46704328	K562	blood:	n/a	chr17:46703964-46703973 chr17:46703749-46703759
11	BHLHE40	chr17:46703145-46704596	K562	blood:	n/a	n/a
12	ZBTB7A	chr17:46703404-46704271	ECC-1	luminal epithelium:	n/a	n/a
13	SP1	chr17:46703755-46704287	K562	blood:	n/a	chr17:46704085-46704094 chr17:46703763-46703773 chr17:46703764-46703773 chr17:46703763-46703777 chr17:46703762-46703774 chr17:46703757-46703771
14	HDAC2	chr17:46703511-46704257	K562	blood:	n/a	n/a
15	POLR2A	chr17:46702158-46704945	K562	blood:	n/a	n/a
16	ELF1	chr17:46703753-46704535	K562	blood:	n/a	chr17:46704299-46704310
17	EP300	chr17:46703433-46704426	K562	blood:	n/a	chr17:46704295-46704309 chr17:46703961-46703975 chr17:46704299-46704308 chr17:46703679-46703688
18	PBX3	chr17:46702358-46704212	A549	lung:	n/a	n/a
19	YY1	chr17:46703764-46704204	A549	lung:	n/a	chr17:46704079-46704088 chr17:46704082-46704091 chr17:46704080-46704091 chr17:46704038-46704049 chr17:46704077-46704088
20	EGR1	chr17:46703839-46704272	ECC-1	luminal epithelium:	n/a	chr17:46704081-46704095 chr17:46704095-46704109 chr17:46704083-46704093 chr17:46704079-46704089 chr17:46704080-46704093 chr17:46704080-46704094 chr17:46704080-46704093 chr17:46704079-46704094 chr17:46704080-46704093 chr17:46704083-46704092
21	MAX	chr17:46703825-46704195	ECC-1	luminal epithelium:	n/a	chr17:46703964-46703973
22	PML	chr17:46703480-46704688	K562	blood:	n/a	n/a
23	CBX3	chr17:46703774-46704346	K562	blood:	n/a	n/a
24	ZBTB33	chr17:46703679-46704280	HCT-116	colon:	n/a	n/a
25	POLR2A	chr17:46701890-46705619	K562	blood:	n/a	n/a
26	IRF1	chr17:46703196-46704556	K562	blood:	n/a	n/a
27	CEBPB	chr17:46703791-46704138	IMR90	lung:	n/a	n/a
28	ATF1	chr17:46703739-46704327	K562	blood:	n/a	n/a
29	CEBPD	chr17:46703079-46704464	K562	blood:	n/a	n/a
30	REST	chr17:46703892-46704132	K562	blood:	n/a	n/a
31	NR2F2	chr17:46703609-46705155	K562	blood:	n/a	n/a
32	UBTF	chr17:46701859-46704464	K562	blood:	n/a	n/a
33	CHD2	chr17:46704022-46704165	H1-hESC	embryonic stem cell:	n/a	n/a
34	STAT5A	chr17:46703624-46704317	K562	blood:	n/a	chr17:46703660-46703672 chr17:46703759-46703771
35	MAZ	chr17:46703866-46704142	GM12878	blood:	n/a	chr17:46703964-46703973
36	POLR2A	chr17:46701711-46705055	HCT-116	colon:	n/a	n/a
37	NFYB	chr17:46703654-46704273	K562	blood:	n/a	chr17:46703834-46703844 chr17:46703835-46703847
38	ARID3A	chr17:46703760-46704282	K562	blood:	n/a	n/a
39	POLR2A	chr17:46702081-46704696	K562	blood:	n/a	n/a
40	ELF1	chr17:46703722-46704134	A549	lung:	n/a	n/a
41	CHD2	chr17:46703449-46704367	K562	blood:	n/a	chr17:46703893-46703903
42	TRIM28	chr17:46703203-46704378	K562	blood:	n/a	n/a
43	BCL3	chr17:46702381-46704398	A549	lung:	n/a	chr17:46703060-46703073 chr17:46704079-46704092 chr17:46704077-46704086 chr17:46704080-46704089 chr17:46703678-46703687 chr17:46702505-46702514 chr17:46702511-46702520 chr17:46703740-46703753 chr17:46704086-46704095
44	MAFF	chr17:46703776-46704082	K562	blood:	n/a	n/a
45	HCFC1	chr17:46703454-46704342	K562	blood:	n/a	n/a
46	CREB1	chr17:46703758-46704315	A549	lung:	n/a	n/a
47	YY1	chr17:46703747-46704335	K562	blood:	n/a	chr17:46704079-46704088 chr17:46704082-46704091 chr17:46704080-46704091 chr17:46704038-46704049 chr17:46704077-46704088
48	EGR1	chr17:46703985-46704177	GM12878	blood:	n/a	chr17:46704081-46704095 chr17:46704095-46704109 chr17:46704083-46704093 chr17:46704079-46704089 chr17:46704080-46704093 chr17:46704080-46704094 chr17:46704080-46704093 chr17:46704079-46704094 chr17:46704080-46704093 chr17:46704083-46704092
49	EGR1	chr17:46703867-46704289	MCF-7	breast:	n/a	chr17:46704081-46704095 chr17:46704095-46704109 chr17:46704083-46704093 chr17:46704079-46704089 chr17:46704080-46704093 chr17:46704080-46704094 chr17:46704080-46704093 chr17:46704079-46704094 chr17:46704080-46704093 chr17:46704083-46704092
50	TAF1	chr17:46703041-46704476	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:46704004-46704054	U87	brain:	n/a
2	chr17:46704004-46704054	AG09309	skin:	n/a
3	chr17:46704004-46704054	K562	blood:	n/a
4	chr17:46704004-46704054	SK-N-SH_RA	brain:	n/a
5	chr17:46704004-46704054	MCF-7	breast:	n/a
6	chr17:46704004-46704054	HUVEC	blood vessel:	n/a
7	chr17:46704004-46704054	LNCaP	prostate:	n/a
8	chr17:46704004-46704054	PFSK-1	brain:	n/a
9	chr17:46704004-46704054	GM19239	blood:	n/a
10	chr17:46704004-46704054	H1-hESC	embryonic stem cell:	embryo
11	chr17:46704004-46704054	RPTEC	kidney:	n/a
12	chr17:46704004-46704054	ProgFib	skin:	n/a
13	chr17:46704004-46704054	HMEC	breast:	n/a
14	chr17:46704004-46704054	Hepatocyte	liver:	n/a
15	chr17:46704004-46704054	A549	lung:	n/a
16	chr17:46704004-46704054	T-47D	breast:	n/a
17	chr17:46704004-46704054	HRE	kidney:	n/a
18	chr17:46704004-46704054	HIPEpiC	eye:	n/a
19	chr17:46704004-46704054	CMK	blood:	n/a
20	chr17:46704004-46704054	GM12878	blood:	n/a
21	chr17:46704004-46704054	GM12892	blood:	n/a
22	chr17:46704004-46704054	SAEC	small airway:	n/a
23	chr17:46704004-46704054	AoSMC	blood vessel:	n/a
24	chr17:46704004-46704054	HNPCEpiC	eye:	n/a
25	chr17:46704004-46704054	BE2_C	brain:	n/a
26	chr17:46704004-46704054	AG04450	lung:	fetal
27	chr17:46704004-46704054	HAEpiC	amniotic membrane:	n/a
28	chr17:46704004-46704054	Caco-2	colon:	n/a
29	chr17:46704004-46704054	GM12891	blood:	n/a
30	chr17:46704004-46704054	Jurkat	blood:	n/a
31	chr17:46704004-46704054	SKMC	muscle:	n/a
32	chr17:46704004-46704054	BJ	skin:	n/a
33	chr17:46704004-46704054	AG04449	skin:	fetal
34	chr17:46704004-46704054	HRPEpiC	eye:	n/a
35	chr17:46704004-46704054	PrEC	prostate:	n/a
36	chr17:46704004-46704054	NB4	blood:	n/a
37	chr17:46704004-46704054	HCM	heart:	n/a
38	chr17:46704004-46704054	HCPEpiC	choroid plexus:	n/a
39	chr17:46704004-46704054	SK-N-MC	brain:	n/a
40	chr17:46704004-46704054	SK-N-SH	brain:	n/a
41	chr17:46704004-46704054	AG09319	gingival:	n/a
42	chr17:46704004-46704054	GM06990	blood:	n/a
43	chr17:46704004-46704054	Hela-S3	cervix:	n/a
44	chr17:46704004-46704054	HPAEpiC	pulmonary alveolar:	n/a
45	chr17:46704004-46704054	HepG2	liver:	n/a
46	chr17:46704004-46704054	HEEpiC	esophagus:	n/a
47	chr17:46704004-46704054	NHBE	bronchial:	n/a
48	chr17:46704004-46704054	MCF10A-Er-Src	breast:	n/a
49	chr17:46704004-46704054	AG10803	skin:	n/a
50	chr17:46704004-46704054	ECC-1	luminal epithelium:	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:46701571..46706598-chr17:47072048..47076281,6	K562	blood:
2	chr12:56511355..56512308-chr17:46703540..46704047,2	NB4	blood:
3	chr17:46618868..46624573-chr17:46700689..46705978,10	K562	blood:
4	chr17:46702504..46704367-chr17:46986949..46989512,2	K562	blood:
5	chr17:46702795..46705458-chr17:47072563..47074933,4	K562	blood:
6	chr17:46369748..46372515-chr17:46702166..46704377,2	K562	blood:
7	chr17:46124778..46127532-chr17:46702734..46705232,2	K562	blood:
8	chr17:46685746..46689281-chr17:46702801..46705653,3	MCF-7	breast:
9	chr17:46686493..46690300-chr17:46702976..46707350,6	MCF-7	breast:
10	chr17:46123925..46127532-chr17:46701622..46704234,4	K562	blood:

Variant related genes	Relation type
HOXB9	TF binding region
HOXB-AS4	TF binding region
HOXB-AS4	CpG island
HOXB9	CpG island
ENSG00000139641	Chromatin interaction
ENSG00000263412	Chromatin interaction
ENSG00000159217	Chromatin interaction
ENSG00000230148	Chromatin interaction
ENSG00000082641	Chromatin interaction
ENSG00000250838	Chromatin interaction
ENSG00000173917	Chromatin interaction
ENSG00000235300	Chromatin interaction
ENSG00000135482	Chromatin interaction
ENSG00000159202	Chromatin interaction
ENSG00000260027	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11079823	1.00[EUR][1000 genomes]
rs4459585	1.00[EUR][1000 genomes]
rs4794741	1.00[EUR][1000 genomes]
rs6416943	1.00[EUR][1000 genomes]
rs6504322	1.00[EUR][1000 genomes]
rs6504326	1.00[EUR][1000 genomes]
rs6504339	1.00[EUR][1000 genomes]
rs7224409	1.00[EUR][1000 genomes]
rs7502340	1.00[EUR][1000 genomes]
rs8182315	1.00[EUR][1000 genomes]
rs9901839	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9906920	1.00[EUR][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	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	nsv543380	chr17:46686151-46721371	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46698800-46704200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr17:46701800-46704400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
3	chr17:46702000-46704400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr17:46702000-46704600	Bivalent Enhancer	Fetal Thymus	thymus
5	chr17:46702200-46704200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr17:46702200-46704200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr17:46702200-46704200	Bivalent Enhancer	Lung	lung
8	chr17:46702200-46704200	Bivalent/Poised TSS	Thymus	Thymus
9	chr17:46702200-46704200	Bivalent/Poised TSS	HSMM	muscle
10	chr17:46702200-46704400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr17:46702200-46704400	Active TSS	K562	blood
12	chr17:46702400-46704200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr17:46702400-46704200	Active TSS	HSMMtube	muscle
14	chr17:46702400-46704400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
15	chr17:46702600-46704400	Bivalent Enhancer	Stomach Mucosa	stomach
16	chr17:46702800-46704200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
17	chr17:46702800-46704200	Enhancers	Spleen	Spleen
18	chr17:46703000-46704200	Active TSS	Fetal Kidney	kidney
19	chr17:46703000-46704400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
20	chr17:46703000-46704600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
21	chr17:46703000-46704600	Bivalent Enhancer	Fetal Lung	lung
22	chr17:46703200-46704400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
23	chr17:46703200-46704600	Bivalent Enhancer	Fetal Stomach	stomach
24	chr17:46703400-46704200	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr17:46703400-46704400	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
26	chr17:46703400-46704600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
27	chr17:46703600-46704200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr17:46703600-46704200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
29	chr17:46703600-46704200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
30	chr17:46703600-46704200	Bivalent/Poised TSS	Primary T helper naive cells from peripheral blood	blood
31	chr17:46703600-46704200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
32	chr17:46703600-46704200	Bivalent Enhancer	Left Ventricle	heart
33	chr17:46703600-46704200	Bivalent/Poised TSS	Psoas Muscle	Psoas
34	chr17:46703600-46704200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
35	chr17:46703600-46704200	Active TSS	Right Atrium	heart
36	chr17:46703600-46704400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr17:46703600-46704400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr17:46703600-46704400	Enhancers	Pancreas	Pancrea
39	chr17:46703600-46704400	Bivalent/Poised TSS	GM12878-XiMat	blood
40	chr17:46703600-46704600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
41	chr17:46703600-46704600	Bivalent Enhancer	Brain Hippocampus Middle	brain
42	chr17:46703600-46704600	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
43	chr17:46703600-46704600	Bivalent Enhancer	Placenta	Placenta
44	chr17:46703600-46705000	Bivalent/Poised TSS	NHEK	skin
45	chr17:46703600-46705200	Bivalent Enhancer	Fetal Intestine Large	intestine
46	chr17:46703800-46704200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
47	chr17:46703800-46704200	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr17:46703800-46704200	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
49	chr17:46703800-46704200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr17:46703800-46704200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin

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