Variant report

Variant	rs4646993
Chromosome Location	chr17:46681604-46681605
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	POLR2A	chr17:46681190-46682711	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr17:46681277-46681743	MCF-7	breast:	n/a	n/a
3	TEAD4	chr17:46681212-46682010	A549	lung:	n/a	n/a
4	CTCF	chr17:46681560-46681710	HEK293	kidney:	n/a	chr17:46681649-46681667
5	REST	chr17:46681333-46681785	K562	blood:	n/a	n/a
6	HEY1	chr17:46681554-46681770	K562	blood:	n/a	n/a
7	POLR2A	chr17:46681102-46683231	Hela-S3	cervix:	n/a	n/a
8	RCOR1	chr17:46680945-46681898	K562	blood:	n/a	n/a
9	YY1	chr17:46681528-46682007	HCT-116	colon:	n/a	n/a
10	BCL3	chr17:46679884-46682701	A549	lung:	n/a	chr17:46682570-46682579 chr17:46682571-46682580
11	MAX	chr17:46679567-46683389	HCT-116	colon:	n/a	chr17:46682913-46682922 chr17:46680035-46680045
12	CTCF	chr17:46681560-46681710	HMF	breast:	n/a	chr17:46681649-46681667
13	USF1	chr17:46679728-46683227	HCT-116	colon:	n/a	chr17:46679897-46679913 chr17:46682399-46682410
14	POLR2A	chr17:46681255-46681787	A549	lung:	n/a	n/a
15	EP300	chr17:46680887-46682046	A549	lung:	n/a	chr17:46681909-46681923
16	CTCF	chr17:46681600-46681750	AG04449	skin:	n/a	chr17:46681649-46681667
17	CEBPB	chr17:46681065-46683163	Hela-S3	cervix:	n/a	n/a
18	SUZ12	chr17:46680949-46681838	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr17:46681251-46682687	ProgFib	skin:	n/a	n/a
20	ATF3	chr17:46681161-46682094	A549	lung:	n/a	n/a
21	POLR2A	chr17:46681253-46681836	HUVEC	blood vessel:	n/a	n/a
22	UBTF	chr17:46680873-46682387	K562	blood:	n/a	n/a
23	MAX	chr17:46678754-46683315	A549	lung:	n/a	chr17:46682913-46682922 chr17:46680035-46680045
24	RFX5	chr17:46679985-46683161	Hela-S3	cervix:	n/a	n/a
25	ZC3H11A	chr17:46681593-46681745	K562	blood:	n/a	n/a
26	MAX	chr17:46678862-46682704	A549	lung:	n/a	chr17:46680035-46680045
27	SP1	chr17:46680911-46682911	A549	lung:	n/a	chr17:46681776-46681788 chr17:46681777-46681787 chr17:46681776-46681788 chr17:46681752-46681766 chr17:46681777-46681787 chr17:46681777-46681791 chr17:46681777-46681786 chr17:46681778-46681787
28	CTCF	chr17:46681580-46681730	Hela-S3	cervix:	n/a	chr17:46681649-46681667
29	PRDM1	chr17:46681426-46681794	Hela-S3	cervix:	n/a	chr17:46681633-46681648
30	ZBTB33	chr17:46681324-46682398	A549	lung:	n/a	n/a
31	MYC	chr17:46681058-46681876	K562	blood:	n/a	n/a
32	BRCA1	chr17:46680929-46682495	Hela-S3	cervix:	n/a	n/a
33	TCF7L2	chr17:46681169-46681664	PANC-1	pancreas:	n/a	n/a
34	NR3C1	chr17:46681172-46681680	A549	lung:	n/a	n/a
35	CTCF	chr17:46681580-46681730	AG10803	skin:	n/a	chr17:46681649-46681667
36	POLR2A	chr17:46681275-46681627	U87	brain:	n/a	n/a
37	USF1	chr17:46681178-46682683	A549	lung:	n/a	chr17:46682399-46682410
38	POLR2A	chr17:46681074-46683297	HUVEC	blood vessel:	n/a	n/a
39	CHD2	chr17:46681302-46682425	K562	blood:	n/a	chr17:46681752-46681762
40	USF2	chr17:46681328-46682686	Hela-S3	cervix:	n/a	chr17:46682398-46682409
41	POLR2A	chr17:46680629-46683289	Hela-S3	cervix:	n/a	n/a
42	TCF7L2	chr17:46681183-46681853	Hela-S3	cervix:	n/a	n/a
43	MAZ	chr17:46681199-46683119	Hela-S3	cervix:	n/a	chr17:46682913-46682922
44	TBP	chr17:46680455-46683270	Hela-S3	cervix:	n/a	n/a
45	SIN3AK20	chr17:46680524-46681636	PANC-1	pancreas:	n/a	n/a
46	MAX	chr17:46680018-46683250	Hela-S3	cervix:	n/a	chr17:46682913-46682922 chr17:46680035-46680045
47	YY1	chr17:46680944-46682830	A549	lung:	n/a	chr17:46682535-46682545
48	CTCF	chr17:46681540-46681690	MCF-7	breast:	n/a	chr17:46681649-46681667
49	ZKSCAN1	chr17:46681010-46681702	Hela-S3	cervix:	n/a	n/a
50	ATF3	chr17:46681144-46682645	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:46675371..46683952-chr17:46685648..46690575,16	MCF-7	breast:
2	chr17:46681489..46682463-chr3:119182153..119182746,2	Hela-S3	cervix:

Variant related genes	Relation type
HOXB6	TF binding region
ENSG00000176142	Chromatin interaction
ENSG00000260027	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1062037	0.86[ASN][1000 genomes]
rs1123630	0.86[CEU][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12939324	0.90[EUR][1000 genomes]
rs12939811	1.00[JPT][hapmap]
rs12952262	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1529334	0.87[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2229302	1.00[JPT][hapmap]
rs28575348	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3087996	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35825473	0.86[ASN][1000 genomes]
rs4239158	0.86[CEU][hapmap]
rs4793589	0.90[ASN][1000 genomes]
rs4793938	0.84[ASN][1000 genomes]
rs4793939	0.90[ASN][1000 genomes]
rs4793943	0.87[CEU][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4793951	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6504340	1.00[JPT][hapmap]
rs66459980	0.93[ASN][1000 genomes]
rs67412921	0.86[ASN][1000 genomes]
rs7207109	1.00[JPT][hapmap]
rs8073963	1.00[JPT][hapmap]
rs8074125	1.00[JPT][hapmap]
rs8079617	1.00[JPT][hapmap]
rs872760	0.86[CEU][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs9896015	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9909884	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9912500	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46672400-46682600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr17:46677400-46684000	Active TSS	Fetal Kidney	kidney
3	chr17:46679000-46681800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
4	chr17:46679000-46682600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
5	chr17:46679200-46682000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr17:46679200-46682400	Active TSS	A549	lung
7	chr17:46679200-46682600	Active TSS	Rectal Mucosa Donor 31	rectum
8	chr17:46679400-46681800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
9	chr17:46679400-46682200	Bivalent/Poised TSS	Small Intestine	intestine
10	chr17:46679400-46682600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr17:46679600-46682000	Active TSS	Muscle Satellite Cultured Cells	--
12	chr17:46679600-46682400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
13	chr17:46679600-46682400	Active TSS	Aorta	Aorta
14	chr17:46679600-46682400	Active TSS	Sigmoid Colon	Sigmoid Colon
15	chr17:46679600-46682600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr17:46679600-46682600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr17:46679600-46682600	Active TSS	Rectal Smooth Muscle	rectum
18	chr17:46679600-46682600	Active TSS	HSMMtube	muscle
19	chr17:46679600-46682600	Active TSS	NHDF-Ad	bronchial
20	chr17:46679800-46682600	Active TSS	Hela-S3	cervix
21	chr17:46679800-46682600	Active TSS	HSMM	muscle
22	chr17:46680000-46682400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
23	chr17:46680000-46682400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
24	chr17:46680200-46682600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr17:46680200-46682600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr17:46680200-46683000	Bivalent/Poised TSS	Psoas Muscle	Psoas
27	chr17:46680400-46681800	Bivalent/Poised TSS	Colonic Mucosa	Colon
28	chr17:46680400-46682400	Active TSS	NHLF	lung
29	chr17:46680400-46682600	Bivalent/Poised TSS	Fetal Stomach	stomach
30	chr17:46680400-46682800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
31	chr17:46680400-46682800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
32	chr17:46680800-46681800	Active TSS	HUVEC	blood vessel
33	chr17:46680800-46682400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr17:46680800-46682400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr17:46680800-46682400	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
36	chr17:46680800-46682800	Active TSS	Colon Smooth Muscle	Colon
37	chr17:46681000-46681800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
38	chr17:46681000-46682000	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr17:46681000-46682200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
40	chr17:46681000-46682400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
41	chr17:46681000-46682600	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
42	chr17:46681000-46683000	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
43	chr17:46681200-46681800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr17:46681200-46681800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr17:46681200-46681800	Active TSS	Rectal Mucosa Donor 29	rectum
46	chr17:46681200-46681800	Enhancers	GM12878-XiMat	blood
47	chr17:46681200-46682000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr17:46681200-46682200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
49	chr17:46681200-46682200	Active TSS	Adipose Nuclei	Adipose
50	chr17:46681200-46682400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--

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