Variant report

Variant	rs2072667
Chromosome Location	chr17:34344962-34344963
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	POLR2A	chr17:34344960-34344969	MCF-7	breast:	n/a	n/a
2	CTCF	chr17:34344842-34344993	GM12892	blood:	n/a	chr17:34344936-34344945
3	CTCF	chr17:34344900-34345050	GM12874	blood:	n/a	chr17:34344936-34344945
4	CTCF	chr17:34344845-34344965	GM10266	blood:	n/a	chr17:34344936-34344945
5	CTCF	chr17:34344840-34344990	K562	blood:	n/a	chr17:34344936-34344945
6	CTCF	chr17:34344829-34345005	GM12891	blood:	n/a	chr17:34344936-34344945
7	CTCF	chr17:34344874-34344980	K562	blood:	n/a	chr17:34344936-34344945
8	MYC	chr17:34344937-34344971	MCF-7	breast:	n/a	n/a
9	POLR2A	chr17:34344857-34344998	HepG2	liver:	n/a	n/a
10	SMC3	chr17:34344866-34345065	HepG2	liver:	n/a	chr17:34344935-34344943
11	CTCF	chr17:34344848-34345028	Spleen_OC	spleen:	n/a	chr17:34344936-34344945
12	CTCF	chr17:34344830-34344980	GM19239	blood:	n/a	chr17:34344936-34344945
13	CTCF	chr17:34344840-34344987	H1-hESC	embryonic stem cell:	n/a	chr17:34344936-34344945
14	CTCF	chr17:34344820-34344970	GM12865	blood:	n/a	chr17:34344936-34344945
15	CTCF	chr17:34344880-34345030	GM12873	blood:	n/a	chr17:34344936-34344945

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:34339180..34340890-chr17:34344090..34346721,2	K562	blood:

Variant related genes	Relation type
CCL23	TF binding region
ENSG00000167236	Chromatin interaction
ENSG00000267431	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10468597	0.96[EUR][1000 genomes]
rs1608205	0.85[ASN][1000 genomes]
rs1608206	0.85[ASN][1000 genomes]
rs1624860	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1719194	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1719197	0.85[ASN][1000 genomes]
rs1719198	0.85[ASN][1000 genomes]
rs1719199	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1719200	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1734954	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1734955	0.85[ASN][1000 genomes]
rs1734957	0.85[ASN][1000 genomes]
rs1734958	0.85[ASN][1000 genomes]
rs1734959	0.81[ASN][1000 genomes]
rs1734960	0.81[ASN][1000 genomes]
rs1734961	1.00[JPT][hapmap]
rs2242596	0.83[AMR][1000 genomes]
rs2280786	0.83[AMR][1000 genomes]
rs2280788	0.83[AMR][1000 genomes]
rs2293789	0.83[AMR][1000 genomes]
rs28914802	0.83[AMR][1000 genomes]
rs28914816	0.83[AMR][1000 genomes]
rs28914817	0.83[AMR][1000 genomes]
rs28914819	0.83[AMR][1000 genomes]
rs3826454	0.83[AMR][1000 genomes]
rs55781042	0.83[AMR][1000 genomes]
rs55799023	0.83[AMR][1000 genomes]
rs55833673	0.83[AMR][1000 genomes]
rs55846484	0.83[AMR][1000 genomes]
rs55915639	0.83[AMR][1000 genomes]
rs56029903	0.83[AMR][1000 genomes]
rs56111312	0.83[AMR][1000 genomes]
rs56221144	0.83[AMR][1000 genomes]
rs56305516	0.83[AMR][1000 genomes]
rs61737011	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7208990	1.00[JPT][hapmap]
rs7213419	1.00[JPT][hapmap]
rs72483217	0.83[AMR][1000 genomes]
rs862820	0.87[EUR][1000 genomes]
rs9303694	0.96[EUR][1000 genomes]
rs9303695	0.96[EUR][1000 genomes]
rs9303696	0.96[EUR][1000 genomes]
rs9303697	0.96[EUR][1000 genomes]
rs9891406	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063100	chr17:34246253-34397598	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv833424	chr17:34246253-34419476	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1056950	chr17:34246253-34442620	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv1059795	chr17:34246253-34442620	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv1060457	chr17:34246253-34442620	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv543320	chr17:34246253-34442620	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv949160	chr17:34246253-34442620	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv1062125	chr17:34266309-34442620	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv833427	chr17:34285285-34442620	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
10	esv1831753	chr17:34285285-34627742	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
11	esv1793798	chr17:34285285-34907282	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
12	esv1810659	chr17:34285285-34907282	Strong transcription Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
13	esv1810804	chr17:34285285-34907282	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
14	esv1830012	chr17:34285285-34907282	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
15	esv1845538	chr17:34285285-34907282	Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
16	esv1849179	chr17:34285285-34907282	Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
17	esv2758450	chr17:34285285-34907282	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
18	nsv428340	chr17:34285285-34907282	Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
19	esv1829321	chr17:34285285-34921981	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
20	esv2758685	chr17:34285285-34921981	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
21	nsv1058029	chr17:34285312-34365313	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
22	nsv543321	chr17:34285312-34365313	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
23	nsv1055760	chr17:34328461-34389926	Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
24	nsv1059892	chr17:34330315-34442620	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:34340000-34345000	Weak transcription	Adipose Nuclei	Adipose
2	chr17:34341000-34345200	Weak transcription	Liver	Liver
3	chr17:34341800-34352400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr17:34344600-34345400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
5	chr17:34344600-34345600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr17:34344600-34345600	Enhancers	HUVEC	blood vessel
7	chr17:34344600-34345600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr17:34344600-34346000	Enhancers	Primary B cells from cord blood	blood
9	chr17:34344600-34346600	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr17:34344600-34346600	Enhancers	Spleen	Spleen
11	chr17:34344800-34345000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
12	chr17:34344800-34345000	Enhancers	Pancreas	Pancrea
13	chr17:34344800-34345000	Enhancers	Psoas Muscle	Psoas
14	chr17:34344800-34345800	Enhancers	Primary hematopoietic stem cells	blood
15	chr17:34344800-34345800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr17:34344800-34346000	Enhancers	Primary B cells from peripheral blood	blood
17	chr17:34344800-34346000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr17:34344800-34346000	Enhancers	Lung	lung

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