Variant report

Variant	rs1781723
Chromosome Location	chr6:38707512-38707513
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:104)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:104 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:38707408-38707600	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr6:38707460-38707610	Caco-2	colon:	n/a	n/a
3	CTCF	chr6:38707400-38707550	GM12873	blood:	n/a	n/a
4	CTCF	chr6:38707400-38707550	HCPEpiC	choroid plexus:	n/a	n/a
5	CTCF	chr6:38707439-38707578	GM13977	blood:	n/a	n/a
6	CTCF	chr6:38707440-38707590	HPF	lung:	n/a	n/a
7	CTCF	chr6:38707460-38707610	HA-sp	spinal cord:	n/a	n/a
8	CTCF	chr6:38707440-38707590	HepG2	liver:	n/a	n/a
9	CTCF	chr6:38707440-38707590	GM12872	blood:	n/a	n/a
10	CTCF	chr6:38707380-38707530	AG09309	skin:	n/a	n/a
11	CTCF	chr6:38707400-38707550	SAEC	small airway:	n/a	n/a
12	CTCF	chr6:38707400-38707550	HBMEC	blood vessel:	n/a	n/a
13	CTCF	chr6:38707400-38707550	BE2_C	brain:	n/a	n/a
14	CTCF	chr6:38707460-38707610	AG04450	lung:	n/a	n/a
15	ZNF143	chr6:38707453-38707582	GM12878	blood:	n/a	n/a
16	CTCF	chr6:38707440-38707590	HPAF	blood vessel:	n/a	n/a
17	CTCF	chr6:38707440-38707590	GM12873	blood:	n/a	n/a
18	CTCF	chr6:38707420-38707570	SK-N-SH_RA	brain:	n/a	n/a
19	CTCF	chr6:38707420-38707570	HPF	lung:	n/a	n/a
20	CTCF	chr6:38707243-38707745	MCF-7	breast:	n/a	n/a
21	CTCF	chr6:38707383-38707652	GM12878	blood:	n/a	n/a
22	CTCF	chr6:38707440-38707590	SK-N-SH_RA	brain:	n/a	n/a
23	CTCF	chr6:38707420-38707570	GM12875	blood:	n/a	n/a
24	CTCF	chr6:38707407-38707564	MCF-7	breast:	n/a	n/a
25	CTCF	chr6:38707379-38707679	K562	blood:	n/a	n/a
26	CTCF	chr6:38707440-38707590	HCM	heart:	n/a	n/a
27	CTCF	chr6:38707440-38707590	BJ	skin:	n/a	n/a
28	CTCF	chr6:38707468-38707575	Medullo	brain:	n/a	n/a
29	CTCF	chr6:38707440-38707590	HBMEC	blood vessel:	n/a	n/a
30	CTCF	chr6:38707380-38707530	Hela-S3	cervix:	n/a	n/a
31	CTCF	chr6:38707415-38707624	HUVEC	blood vessel:	n/a	n/a
32	RAD21	chr6:38707345-38707633	SK-N-SH_RA	brain:	n/a	n/a
33	CTCF	chr6:38707400-38707550	NHEK	skin:	n/a	n/a
34	CTCF	chr6:38707420-38707570	HCM	heart:	n/a	n/a
35	CTCF	chr6:38707420-38707570	HA-sp	spinal cord:	n/a	n/a
36	CTCF	chr6:38707426-38707620	GM12878	blood:	n/a	n/a
37	CTCF	chr6:38707480-38707630	MCF-7	breast:	n/a	n/a
38	CTCF	chr6:38707420-38707570	HEK293	kidney:	n/a	n/a
39	CTCF	chr6:38707380-38707530	GM12864	blood:	n/a	n/a
40	CTCF	chr6:38707460-38707610	HCT-116	colon:	n/a	n/a
41	CTCF	chr6:38707400-38707550	HRE	kidney:	n/a	n/a
42	CTCF	chr6:38707456-38707601	LNCaP	prostate:	n/a	n/a
43	CTCF	chr6:38707400-38707550	WI-38	lung:	n/a	n/a
44	CTCF	chr6:38707460-38707610	GM06990	blood:	n/a	n/a
45	CTCF	chr6:38707460-38707610	AG10803	skin:	n/a	n/a
46	CTCF	chr6:38707380-38707530	GM12868	blood:	n/a	n/a
47	CTCF	chr6:38707440-38707590	AG10803	skin:	n/a	n/a
48	CTCF	chr6:38707420-38707570	GM06990	blood:	n/a	n/a
49	CTCF	chr6:38707323-38707741	MCF-7	breast:	n/a	n/a
50	CTCF	chr6:38707420-38707570	WERI-Rb-1	eye:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:38676294..38676877-chr6:38707294..38707957,2	MCF-7	breast:

No data

Variant related genes	Relation type
RN7SL465P	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1018420	1.00[CHB][hapmap]
rs1033524	1.00[CHB][hapmap]
rs12196388	1.00[CHB][hapmap]
rs12208880	1.00[CHB][hapmap]
rs12209872	1.00[CHB][hapmap]
rs13196250	1.00[CHB][hapmap]
rs13208143	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13212272	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13212328	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13213448	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs13219077	1.00[CHB][hapmap]
rs1625177	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs1631117	0.86[EUR][1000 genomes]
rs1698997	0.81[AMR][1000 genomes]
rs1698999	0.86[EUR][1000 genomes]
rs1781720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1781721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1937777	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34494185	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6458066	0.80[EUR][1000 genomes]
rs6923304	1.00[CHB][hapmap]
rs6928323	1.00[CHB][hapmap]
rs6930268	1.00[CHB][hapmap]
rs71571347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7742625	1.00[CHB][hapmap]
rs9296260	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv2758049	chr6:38588969-38711085	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	esv2759421	chr6:38588969-38711085	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv427754	chr6:38588969-38711085	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv428144	chr6:38588969-38711085	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
7	nsv830642	chr6:38645056-38800657	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38706200-38738600	Weak transcription	K562	blood

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