Variant report

Variant	rs61929997
Chromosome Location	chr12:11362262-11362263
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:29 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr12:11361963-11362355	HepG2	liver:	n/a	n/a
2	RAD21	chr12:11362021-11362287	HCT-116	colon:	n/a	n/a
3	RAD21	chr12:11361895-11362387	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr12:11362035-11362351	GM12878	blood:	n/a	n/a
5	TEAD4	chr12:11362054-11362433	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr12:11362140-11362290	HCT-116	colon:	n/a	n/a
7	RAD21	chr12:11361986-11362329	H1-hESC	embryonic stem cell:	n/a	n/a
8	RAD21	chr12:11362017-11362404	MCF-7	breast:	n/a	n/a
9	CTCF	chr12:11362120-11362270	Caco-2	colon:	n/a	n/a
10	CTCF	chr12:11362180-11362330	BE2_C	brain:	n/a	n/a
11	RAD21	chr12:11361998-11362341	ECC-1	luminal epithelium:	n/a	n/a
12	CTCF	chr12:11362069-11362308	MCF-7	breast:	n/a	n/a
13	CTCF	chr12:11362160-11362310	Hela-S3	cervix:	n/a	n/a
14	CTCF	chr12:11362133-11362269	LNCaP	prostate:	n/a	n/a
15	CTCF	chr12:11361987-11362384	MCF-7	breast:	n/a	n/a
16	CTCF	chr12:11362120-11362270	MCF-7	breast:	n/a	n/a
17	CTCF	chr12:11362120-11362270	HRPEpiC	eye:	n/a	n/a
18	CTCF	chr12:11362120-11362270	GM06990	blood:	n/a	n/a
19	REST	chr12:11361978-11362433	H1-neurons	neurons:	n/a	chr12:11362359-11362379 chr12:11362375-11362388
20	RAD21	chr12:11361948-11362308	MCF-7	breast:	n/a	n/a
21	CTCF	chr12:11362100-11362276	Hela-S3	cervix:	n/a	n/a
22	CTCF	chr12:11362084-11362298	MCF-7	breast:	n/a	n/a
23	CTCF	chr12:11362193-11362265	Lung_OC	lung:	n/a	n/a
24	RAD21	chr12:11361975-11362348	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr12:11362042-11362315	H1-hESC	embryonic stem cell:	n/a	n/a
26	RAD21	chr12:11362093-11362269	SK-N-SH_RA	brain:	n/a	n/a
27	RAD21	chr12:11362079-11362339	Hela-S3	cervix:	n/a	n/a
28	CTCF	chr12:11362120-11362270	SAEC	small airway:	n/a	n/a
29	CTCF	chr12:11362160-11362310	GM06990	blood:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000256373	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs61912887	1.00[AMR][1000 genomes]
rs61928450	1.00[AMR][1000 genomes]
rs61930567	1.00[AMR][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	esv2758294	chr12:10969620-11714921	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
2	esv2759879	chr12:10969620-11714921	Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
3	nsv1038277	chr12:11060978-11504091	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	nsv428272	chr12:11069845-11714921	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
5	nsv1050050	chr12:11192046-11436359	Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv1053783	chr12:11203509-11495584	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
7	esv1807067	chr12:11214215-11568895	Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
8	nsv976532	chr12:11351537-11368813	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11330600-11365400	Weak transcription	Primary T cells from cord blood	blood
2	chr12:11361800-11362400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:11362000-11362400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr12:11362000-11362400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr12:11362000-11362400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr12:11362000-11362400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:11362200-11362400	Active TSS	Liver	Liver
8	chr12:11362200-11362400	Enhancers	Brain Germinal Matrix	brain
9	chr12:11362200-11371800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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