Variant report

Variant	rs55835425
Chromosome Location	chr17:46703783-46703784
allele	G/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	POLR2A	chr17:46701823-46705617	K562	blood:	n/a	n/a
6	POLR2A	chr17:46703778-46704290	A549	lung:	n/a	n/a
7	SUZ12	chr17:46701724-46704029	NT2-D1	testis:	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	PML	chr17:46703480-46704688	K562	blood:	n/a	n/a
21	CBX3	chr17:46703774-46704346	K562	blood:	n/a	n/a
22	ZBTB33	chr17:46703679-46704280	HCT-116	colon:	n/a	n/a
23	POLR2A	chr17:46701890-46705619	K562	blood:	n/a	n/a
24	IRF1	chr17:46703196-46704556	K562	blood:	n/a	n/a
25	ATF1	chr17:46703739-46704327	K562	blood:	n/a	n/a
26	TCF7L2	chr17:46702610-46704030	PANC-1	pancreas:	n/a	n/a
27	CEBPD	chr17:46703079-46704464	K562	blood:	n/a	n/a
28	NR2F2	chr17:46703609-46705155	K562	blood:	n/a	n/a
29	UBTF	chr17:46701859-46704464	K562	blood:	n/a	n/a
30	STAT5A	chr17:46703624-46704317	K562	blood:	n/a	chr17:46703660-46703672 chr17:46703759-46703771
31	POLR2A	chr17:46701711-46705055	HCT-116	colon:	n/a	n/a
32	NFYB	chr17:46703654-46704273	K562	blood:	n/a	chr17:46703834-46703844 chr17:46703835-46703847
33	ARID3A	chr17:46703760-46704282	K562	blood:	n/a	n/a
34	POLR2A	chr17:46702081-46704696	K562	blood:	n/a	n/a
35	ELF1	chr17:46703722-46704134	A549	lung:	n/a	n/a
36	CHD2	chr17:46703449-46704367	K562	blood:	n/a	chr17:46703893-46703903
37	TRIM28	chr17:46703203-46704378	K562	blood:	n/a	n/a
38	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
39	MAFF	chr17:46703776-46704082	K562	blood:	n/a	n/a
40	HCFC1	chr17:46703454-46704342	K562	blood:	n/a	n/a
41	CREB1	chr17:46703758-46704315	A549	lung:	n/a	n/a
42	YY1	chr17:46703747-46704335	K562	blood:	n/a	chr17:46704079-46704088 chr17:46704082-46704091 chr17:46704080-46704091 chr17:46704038-46704049 chr17:46704077-46704088
43	TAF1	chr17:46703041-46704476	K562	blood:	n/a	n/a
44	CREB1	chr17:46703545-46704447	K562	blood:	n/a	n/a
45	TBL1XR1	chr17:46703534-46704422	K562	blood:	n/a	n/a
46	JUN	chr17:46702956-46704714	K562	blood:	n/a	chr17:46703061-46703070
47	GABPA	chr17:46703772-46704172	A549	lung:	n/a	n/a
48	CREB1	chr17:46703759-46704083	A549	lung:	n/a	n/a
49	MAX	chr17:46703105-46704252	K562	blood:	n/a	chr17:46703964-46703973 chr17:46703749-46703759
50	USF1	chr17:46703767-46704129	K562	blood:	n/a	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
HOXB-AS4	TF binding region
ENSG00000260027	Chromatin interaction
ENSG00000235300	Chromatin interaction
ENSG00000263412	Chromatin interaction
ENSG00000250838	Chromatin interaction
ENSG00000159202	Chromatin interaction
ENSG00000135482	Chromatin interaction
ENSG00000230148	Chromatin interaction
ENSG00000082641	Chromatin interaction
ENSG00000173917	Chromatin interaction
ENSG00000139641	Chromatin interaction
ENSG00000159217	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs55755338	1.00[EUR][1000 genomes]
rs73324257	1.00[EUR][1000 genomes]
rs877507	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:92 , 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	chr17:46700800-46704000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr17:46701800-46704400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
4	chr17:46702000-46704400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr17:46702000-46704600	Bivalent Enhancer	Fetal Thymus	thymus
6	chr17:46702200-46704000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr17:46702200-46704000	Bivalent Enhancer	Fetal Brain Male	brain
8	chr17:46702200-46704000	Active TSS	A549	lung
9	chr17:46702200-46704200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
10	chr17:46702200-46704200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr17:46702200-46704200	Bivalent Enhancer	Lung	lung
12	chr17:46702200-46704200	Bivalent/Poised TSS	Thymus	Thymus
13	chr17:46702200-46704200	Bivalent/Poised TSS	HSMM	muscle
14	chr17:46702200-46704400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr17:46702200-46704400	Active TSS	K562	blood
16	chr17:46702400-46703800	Bivalent Enhancer	Esophagus	oesophagus
17	chr17:46702400-46704000	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
18	chr17:46702400-46704200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr17:46702400-46704200	Active TSS	HSMMtube	muscle
20	chr17:46702400-46704400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
21	chr17:46702600-46703800	Bivalent/Poised TSS	NHDF-Ad	bronchial
22	chr17:46702600-46704000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr17:46702600-46704400	Bivalent Enhancer	Stomach Mucosa	stomach
24	chr17:46702800-46704200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
25	chr17:46702800-46704200	Enhancers	Spleen	Spleen
26	chr17:46703000-46703800	Bivalent/Poised TSS	Colonic Mucosa	Colon
27	chr17:46703000-46704200	Active TSS	Fetal Kidney	kidney
28	chr17:46703000-46704400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
29	chr17:46703000-46704600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
30	chr17:46703000-46704600	Bivalent Enhancer	Fetal Lung	lung
31	chr17:46703200-46703800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
32	chr17:46703200-46703800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
33	chr17:46703200-46703800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
34	chr17:46703200-46704400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
35	chr17:46703200-46704600	Bivalent Enhancer	Fetal Stomach	stomach
36	chr17:46703400-46703800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
37	chr17:46703400-46703800	Bivalent/Poised TSS	Primary T killer naive cells fromperipheralblood	blood
38	chr17:46703400-46703800	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
39	chr17:46703400-46703800	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
40	chr17:46703400-46704000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
41	chr17:46703400-46704000	Active TSS	Ovary	ovary
42	chr17:46703400-46704000	Bivalent Enhancer	NH-A	brain
43	chr17:46703400-46704200	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr17:46703400-46704400	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
45	chr17:46703400-46704600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
46	chr17:46703600-46703800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
47	chr17:46703600-46703800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr17:46703600-46703800	Bivalent Enhancer	Primary B cells from cord blood	blood
49	chr17:46703600-46703800	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
50	chr17:46703600-46703800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood

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