Variant report

Variant	rs9221
Chromosome Location	chr17:46675813-46675814
allele	A/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	MAX	chr17:46675444-46675948	ECC-1	luminal epithelium:	n/a	n/a
2	MAZ	chr17:46669362-46676749	IMR90	lung:	n/a	chr17:46669880-46669890 chr17:46671209-46671222 chr17:46671209-46671222 chr17:46669884-46669894 chr17:46673053-46673063
3	TAF1	chr17:46675456-46675866	ECC-1	luminal epithelium:	n/a	n/a
4	MAX	chr17:46675442-46675968	ECC-1	luminal epithelium:	n/a	n/a
5	ZNF263	chr17:46674255-46676504	HEK293-T-REx	kidney:	n/a	chr17:46676149-46676158 chr17:46675879-46675888
6	SIN3AK20	chr17:46670331-46675986	PANC-1	pancreas:	n/a	n/a
7	CHD1	chr17:46662335-46676284	IMR90	lung:	n/a	chr17:46662455-46662465 chr17:46670083-46670093 chr17:46669891-46669901
8	EP300	chr17:46675319-46676417	ECC-1	luminal epithelium:	n/a	chr17:46675775-46675789 chr17:46675524-46675540
9	TCF12	chr17:46675291-46675957	ECC-1	luminal epithelium:	n/a	n/a
10	SUZ12	chr17:46669440-46680361	NT2-D1	testis:	n/a	n/a
11	KAP1	chr17:46675338-46676084	HEK293	kidney:	n/a	n/a
12	POLR2A	chr17:46673218-46676000	ECC-1	luminal epithelium:	n/a	n/a
13	POLR2A	chr17:46675058-46675892	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr17:46675100-46675943	HUVEC	blood vessel:	n/a	n/a
15	POLR2A	chr17:46673392-46675913	HEK293	kidney:	n/a	n/a
16	POLR2A	chr17:46655911-46684927	PANC-1	pancreas:	n/a	n/a
17	NFIC	chr17:46675354-46675920	ECC-1	luminal epithelium:	n/a	n/a
18	SIN3AK20	chr17:46674340-46675854	PANC-1	pancreas:	n/a	n/a
19	MAX	chr17:46674978-46675924	MCF-7	breast:	n/a	n/a
20	CTBP2	chr17:46673347-46675907	H1-hESC	embryonic stem cell:	n/a	n/a
21	HA-E2F1	chr17:46675060-46675911	MCF-7	breast:	n/a	n/a
22	SUZ12	chr17:46673328-46678417	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr17:46645331-46684907	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:46673414..46676816-chr17:46677264..46681067,4	MCF-7	breast:
2	chr17:46674726..46677086-chr17:46686805..46690746,4	MCF-7	breast:
3	chr17:46675371..46683952-chr17:46685648..46690575,16	MCF-7	breast:
4	chr17:46674931..46679280-chr17:46681348..46684289,3	MCF-7	breast:
5	chr17:46503757..46506567-chr17:46674757..46677231,2	K562	blood:
6	chr17:46670234..46673454-chr17:46674972..46678750,4	MCF-7	breast:

Variant related genes	Relation type
HOXB-AS3	TF binding region
HOXB6	TF binding region
HOXB5	TF binding region
ENSG00000233101	Chromatin interaction
ENSG00000120093	Chromatin interaction
ENSG00000120075	Chromatin interaction
ENSG00000108511	Chromatin interaction
ENSG00000260027	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10853101	0.92[JPT][hapmap]
rs2288276	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2288277	0.91[CEU][hapmap];0.82[CHB][hapmap];0.85[MEX][hapmap];0.84[AMR][1000 genomes]
rs2288278	0.83[JPT][hapmap]
rs2288279	0.91[CEU][hapmap];0.90[CHB][hapmap];0.92[JPT][hapmap];0.85[MEX][hapmap];0.81[TSI][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2555109	0.96[ASN][1000 genomes]
rs2740752	0.92[JPT][hapmap];0.89[ASN][1000 genomes]
rs4646992	0.81[AMR][1000 genomes]
rs6504397	0.89[ASW][hapmap]
rs6504411	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7405452	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7406170	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7406324	0.91[CEU][hapmap];0.82[CHB][hapmap];0.85[MEX][hapmap];0.88[AMR][1000 genomes]
rs7406798	0.89[ASW][hapmap]
rs7406910	0.83[CEU][hapmap];0.92[JPT][hapmap];0.84[MEX][hapmap];0.90[MKK][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8844	0.80[CHB][hapmap]
rs890431	0.83[CEU][hapmap];0.92[JPT][hapmap];0.84[LWK][hapmap];0.92[MEX][hapmap];0.90[MKK][hapmap];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9903182	0.83[CEU][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9905793	0.83[AMR][1000 genomes]
rs9907987	0.91[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap];0.85[MEX][hapmap];0.90[AMR][1000 genomes];0.91[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:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46666400-46678600	Weak transcription	Hela-S3	cervix
2	chr17:46671000-46676200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
3	chr17:46671800-46676200	Weak transcription	K562	blood
4	chr17:46672400-46676800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr17:46672400-46682600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr17:46672600-46677000	Active TSS	Fetal Kidney	kidney
7	chr17:46674000-46676000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr17:46674000-46676400	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr17:46674200-46676000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
10	chr17:46674200-46676000	Bivalent/Poised TSS	Psoas Muscle	Psoas
11	chr17:46674400-46676000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
12	chr17:46674400-46676000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr17:46674400-46676000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
14	chr17:46674400-46676200	Flanking Active TSS	HUVEC	blood vessel
15	chr17:46674600-46676000	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
16	chr17:46674800-46676000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
17	chr17:46674800-46676000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr17:46674800-46676400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
19	chr17:46674800-46676400	Weak transcription	A549	lung
20	chr17:46675000-46676200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
21	chr17:46675200-46676000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
22	chr17:46675200-46676000	Bivalent Enhancer	Fetal Heart	heart
23	chr17:46675400-46676000	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
24	chr17:46675400-46676000	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
25	chr17:46675400-46676000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
26	chr17:46675600-46676000	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
27	chr17:46675600-46676000	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr17:46675600-46676000	Flanking Active TSS	Rectal Smooth Muscle	rectum
29	chr17:46675600-46676000	Bivalent Enhancer	Stomach Mucosa	stomach
30	chr17:46675600-46676200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr17:46675600-46676200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr17:46675600-46676200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
33	chr17:46675600-46676400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr17:46675600-46676400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr17:46675600-46676400	Bivalent/Poised TSS	Colonic Mucosa	Colon
36	chr17:46675600-46676400	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
37	chr17:46675600-46676400	Bivalent Enhancer	Placenta	Placenta
38	chr17:46675600-46676600	Flanking Active TSS	HSMM	muscle
39	chr17:46675600-46679200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
40	chr17:46675800-46676000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
41	chr17:46675800-46676000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
42	chr17:46675800-46676000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
43	chr17:46675800-46676000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr17:46675800-46676000	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
45	chr17:46675800-46676000	Bivalent Enhancer	Duodenum Mucosa	Duodenum
46	chr17:46675800-46676000	Bivalent Enhancer	Esophagus	oesophagus
47	chr17:46675800-46676000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
48	chr17:46675800-46676000	Bivalent Enhancer	Small Intestine	intestine
49	chr17:46675800-46676000	Flanking Active TSS	HSMMtube	muscle
50	chr17:46675800-46676200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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