Variant report

Variant	rs17683736
Chromosome Location	chr6:55806632-55806633
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:64)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:55806605-55806787	A549	lung:	n/a	n/a
2	RAD21	chr6:55806494-55806876	IMR90	lung:	n/a	n/a
3	CTCF	chr6:55806542-55806864	MCF-7	breast:	n/a	n/a
4	CTCF	chr6:55806600-55806750	Caco-2	colon:	n/a	n/a
5	CTCF	chr6:55806580-55806730	HVMF	connective:	n/a	n/a
6	RAD21	chr6:55806503-55806971	MCF-7	breast:	n/a	n/a
7	CTCF	chr6:55806506-55806880	IMR90	lung:	n/a	n/a
8	CTCF	chr6:55806600-55806750	HFF-Myc	foreskin:	n/a	n/a
9	CTCF	chr6:55806597-55806799	HUVEC	blood vessel:	n/a	n/a
10	CTCF	chr6:55806620-55806770	HA-sp	spinal cord:	n/a	n/a
11	CTCF	chr6:55806608-55806785	HepG2	liver:	n/a	n/a
12	CTCF	chr6:55806616-55806766	Medullo	brain:	n/a	n/a
13	SMC3	chr6:55806422-55806859	Hela-S3	cervix:	n/a	n/a
14	RAD21	chr6:55806551-55806834	HepG2	liver:	n/a	n/a
15	CTCF	chr6:55806600-55806750	AG09319	gingival:	n/a	n/a
16	CTCF	chr6:55806620-55806770	HEK293	kidney:	n/a	n/a
17	CTCF	chr6:55806600-55806750	HMF	breast:	n/a	n/a
18	CTCF	chr6:55806620-55806770	HPF	lung:	n/a	n/a
19	CTCF	chr6:55806520-55806670	GM06990	blood:	n/a	n/a
20	CTCF	chr6:55806620-55806770	HCM	heart:	n/a	n/a
21	RAD21	chr6:55806447-55806968	A549	lung:	n/a	n/a
22	CTCF	chr6:55806580-55806730	HBMEC	blood vessel:	n/a	n/a
23	CTCF	chr6:55806503-55806923	HCT-116	colon:	n/a	n/a
24	CTCF	chr6:55806493-55806790	A549	lung:	n/a	n/a
25	RAD21	chr6:55806275-55806995	SK-N-SH	brain:	n/a	n/a
26	RAD21	chr6:55806446-55806769	HepG2	liver:	n/a	n/a
27	RAD21	chr6:55806458-55806854	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr6:55806338-55806980	A549	lung:	n/a	n/a
29	CTCF	chr6:55806538-55806867	GM12878	blood:	n/a	n/a
30	CTCF	chr6:55806620-55806770	NHLF	lung:	n/a	n/a
31	CTCF	chr6:55806614-55806804	Hela-S3	cervix:	n/a	n/a
32	CTCF	chr6:55806560-55806710	HVMF	connective:	n/a	n/a
33	RAD21	chr6:55806494-55806876	MCF-7	breast:	n/a	n/a
34	CTCF	chr6:55806620-55806770	NHDF-neo	bronchial:	n/a	n/a
35	RAD21	chr6:55806570-55806891	SK-N-SH_RA	brain:	n/a	n/a
36	CTCF	chr6:55806600-55806750	AG04449	skin:	n/a	n/a
37	RAD21	chr6:55806470-55806839	H1-hESC	embryonic stem cell:	n/a	n/a
38	RAD21	chr6:55806497-55806872	HCT-116	colon:	n/a	n/a
39	RAD21	chr6:55806384-55806923	A549	lung:	n/a	n/a
40	RAD21	chr6:55806401-55806945	HCT-116	colon:	n/a	n/a
41	CTCF	chr6:55806620-55806770	HRE	kidney:	n/a	n/a
42	CTCF	chr6:55806560-55806710	BJ	skin:	n/a	n/a
43	CTCF	chr6:55806620-55806770	AoAF	blood vessel:	n/a	n/a
44	CTCF	chr6:55806600-55806750	NHDF-neo	bronchial:	n/a	n/a
45	CTCF	chr6:55806540-55806690	HCT-116	colon:	n/a	n/a
46	CTCF	chr6:55806520-55806670	HMEC	breast:	n/a	n/a
47	CTCF	chr6:55806534-55806861	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr6:55806620-55806770	HFF-Myc	foreskin:	n/a	n/a
49	CTCF	chr6:55806580-55806730	Caco-2	colon:	n/a	n/a
50	CTCF	chr6:55806620-55806770	GM12872	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:55310627..55311224-chr6:55806307..55806968,2	MCF-7	breast:
2	chr6:55313873..55314721-chr6:55806208..55806737,2	MCF-7	breast:
3	chr6:55377472..55378318-chr6:55806611..55807235,2	MCF-7	breast:

No data

Variant related genes	Relation type
NPM1P36	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10485079	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12191931	1.00[CHB][hapmap]
rs16887333	1.00[JPT][hapmap]
rs16887397	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16887398	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16887399	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16887402	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16887528	0.85[EUR][1000 genomes]
rs17683688	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17736107	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2197643	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61391184	0.88[EUR][1000 genomes]
rs6459117	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6906682	1.00[ASN][1000 genomes]
rs6915768	0.86[JPT][hapmap]
rs6931303	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6939815	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9885708	1.00[CHB][hapmap];0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034037	chr6:55222409-56069600	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv1024174	chr6:55713889-55829936	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1029301	chr6:55713889-55834480	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv830665	chr6:55755560-55920219	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv5312	chr6:55784991-55830051	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv885911	chr6:55789704-56143231	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
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