Variant report

Variant	rs7134200
Chromosome Location	chr12:59767068-59767069
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	RAD21	chr12:59766767-59767078	HepG2	liver:	n/a	chr12:59766943-59766962 chr12:59766947-59766961
2	RAD21	chr12:59766728-59767104	H1-hESC	embryonic stem cell:	n/a	chr12:59766943-59766962 chr12:59766947-59766961
3	CTCF	chr12:59766940-59767090	HFF-Myc	foreskin:	n/a	chr12:59766947-59766960 chr12:59766945-59766963 chr12:59766940-59766961
4	CTCF	chr12:59766940-59767090	NHDF-neo	bronchial:	n/a	chr12:59766947-59766960 chr12:59766945-59766963 chr12:59766940-59766961
5	CTCF	chr12:59766641-59767208	HCT-116	colon:	n/a	chr12:59766947-59766960 chr12:59766945-59766963 chr12:59766940-59766961
6	RAD21	chr12:59766713-59767221	MCF-7	breast:	n/a	chr12:59766943-59766962 chr12:59766947-59766961
7	CTCF	chr12:59766920-59767070	NHDF-neo	bronchial:	n/a	chr12:59766947-59766960 chr12:59766945-59766963 chr12:59766940-59766961
8	SMC3	chr12:59766895-59767095	GM12878	blood:	n/a	chr12:59766947-59766961
9	RAD21	chr12:59766776-59767124	IMR90	lung:	n/a	chr12:59766943-59766962 chr12:59766947-59766961
10	CTCF	chr12:59766663-59767200	MCF-7	breast:	n/a	chr12:59766947-59766960 chr12:59766945-59766963 chr12:59766940-59766961
11	CTCF	chr12:59766920-59767070	GM12867	blood:	n/a	chr12:59766947-59766960 chr12:59766945-59766963 chr12:59766940-59766961
12	CTCF	chr12:59766940-59767090	HL-60	blood:	n/a	chr12:59766947-59766960 chr12:59766945-59766963 chr12:59766940-59766961
13	CTCF	chr12:59766940-59767090	GM12873	blood:	n/a	chr12:59766947-59766960 chr12:59766945-59766963 chr12:59766940-59766961
14	RAD21	chr12:59766754-59767136	HCT-116	colon:	n/a	chr12:59766943-59766962 chr12:59766947-59766961
15	CTCF	chr12:59766784-59767126	GM12878	blood:	n/a	chr12:59766947-59766960 chr12:59766945-59766963 chr12:59766940-59766961
16	RAD21	chr12:59766740-59767170	ECC-1	luminal epithelium:	n/a	chr12:59766943-59766962 chr12:59766947-59766961
17	CTCF	chr12:59766920-59767070	SAEC	small airway:	n/a	chr12:59766947-59766960 chr12:59766945-59766963 chr12:59766940-59766961
18	JUND	chr12:59766758-59767072	H1-hESC	embryonic stem cell:	n/a	n/a
19	RAD21	chr12:59766638-59767167	MCF-7	breast:	n/a	chr12:59766943-59766962 chr12:59766947-59766961
20	CTCF	chr12:59766779-59767128	IMR90	lung:	n/a	chr12:59766947-59766960 chr12:59766945-59766963 chr12:59766940-59766961
21	CTCF	chr12:59766795-59767139	H1-hESC	embryonic stem cell:	n/a	chr12:59766947-59766960 chr12:59766945-59766963 chr12:59766940-59766961
22	CTCF	chr12:59766920-59767070	RPTEC	kidney:	n/a	chr12:59766947-59766960 chr12:59766945-59766963 chr12:59766940-59766961
23	CTCF	chr12:59766920-59767070	HA-sp	spinal cord:	n/a	chr12:59766947-59766960 chr12:59766945-59766963 chr12:59766940-59766961
24	RAD21	chr12:59766670-59767245	HCT-116	colon:	n/a	chr12:59766943-59766962 chr12:59766947-59766961
25	CTCF	chr12:59766920-59767070	HEEpiC	esophagus:	n/a	chr12:59766947-59766960 chr12:59766945-59766963 chr12:59766940-59766961
26	RAD21	chr12:59766740-59767126	H1-hESC	embryonic stem cell:	n/a	chr12:59766943-59766962 chr12:59766947-59766961
27	CTCF	chr12:59766940-59767090	HA-sp	spinal cord:	n/a	chr12:59766947-59766960 chr12:59766945-59766963 chr12:59766940-59766961
28	CTCF	chr12:59766755-59767177	MCF-7	breast:	n/a	chr12:59766947-59766960 chr12:59766945-59766963 chr12:59766940-59766961

No.	Distal block	Cell Line	Cell type
1	chr12:59507585..59508107-chr12:59766521..59767200,2	MCF-7	breast:
2	chr12:59507234..59507853-chr12:59766386..59767199,2	MCF-7	breast:
3	chr12:59764978..59768337-chr12:59768399..59771459,3	MCF-7	breast:
4	chr12:59567188..59568180-chr12:59766489..59767406,3	MCF-7	breast:

Variant related genes	Relation type
RNU6-279P	TF binding region

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11830159	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11832063	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11833678	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11835273	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11837506	0.91[EUR][1000 genomes]
rs12810255	0.88[EUR][1000 genomes]
rs12810370	0.83[EUR][1000 genomes]
rs12812247	0.88[EUR][1000 genomes]
rs12812349	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12812654	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12815892	0.91[EUR][1000 genomes]
rs12817396	0.83[EUR][1000 genomes]
rs12823449	0.87[EUR][1000 genomes]
rs12824894	0.83[EUR][1000 genomes]
rs12824908	0.87[EUR][1000 genomes]
rs12831896	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2203392	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34238449	0.83[EUR][1000 genomes]
rs34418591	0.88[EUR][1000 genomes]
rs34531399	0.83[EUR][1000 genomes]
rs35103945	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35337561	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35377390	0.87[EUR][1000 genomes]
rs35407860	0.83[EUR][1000 genomes]
rs35438740	0.85[EUR][1000 genomes]
rs35563376	0.88[EUR][1000 genomes]
rs35710665	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35715187	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35797812	0.88[EUR][1000 genomes]
rs36011226	0.88[EUR][1000 genomes]
rs36094921	0.87[EUR][1000 genomes]
rs4447211	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56179488	0.86[EUR][1000 genomes]
rs56376003	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs66861324	0.87[EUR][1000 genomes]
rs66931930	0.86[EUR][1000 genomes]
rs67042072	0.86[EUR][1000 genomes]
rs67534243	0.86[EUR][1000 genomes]
rs67600993	0.82[ASN][1000 genomes]
rs73120170	0.88[EUR][1000 genomes]
rs73120185	0.87[EUR][1000 genomes]
rs73121907	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7314663	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7484879	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7487998	0.88[EUR][1000 genomes]
rs7962767	0.88[EUR][1000 genomes]
rs7975333	0.83[EUR][1000 genomes]
rs982772	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv559052	chr12:59532203-59809256	Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv2762982	chr12:59659871-60000135	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv1042271	chr12:59668468-59993468	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv520767	chr12:59671388-59782228	Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1038467	chr12:59680717-59999008	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv541507	chr12:59680717-59999008	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv1049084	chr12:59700333-59993468	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv869425	chr12:59746898-60479741	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59765000-59767600	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr12:59766600-59767200	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr12:59766600-59767200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr12:59766600-59768000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr12:59767000-59767600	Enhancers	HUES48 Cell Line	embryonic stem cell

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