Variant report

Variant	rs5763435
Chromosome Location	chr22:30119954-30119955
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:49)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:49 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr22:30119820-30119970	HMEC	breast:	n/a	n/a
2	CTCF	chr22:30119900-30120050	GM12864	blood:	n/a	n/a
3	CTCF	chr22:30119840-30119990	BE2_C	brain:	n/a	n/a
4	CTCF	chr22:30119880-30120030	GM12874	blood:	n/a	n/a
5	CTCF	chr22:30119840-30119990	HBMEC	blood vessel:	n/a	n/a
6	CTCF	chr22:30119892-30120041	GM12878	blood:	n/a	n/a
7	CTCF	chr22:30119880-30120030	GM12871	blood:	n/a	n/a
8	RAD21	chr22:30119699-30120149	H1-hESC	embryonic stem cell:	n/a	chr22:30119983-30119992 chr22:30119834-30119844
9	CTCF	chr22:30119820-30119970	HPF	lung:	n/a	n/a
10	CTCF	chr22:30119890-30120040	MCF-7	breast:	n/a	n/a
11	CTCF	chr22:30119900-30120050	HEK293	kidney:	n/a	n/a
12	CTCF	chr22:30119903-30120040	GM12891	blood:	n/a	n/a
13	CTCF	chr22:30119900-30120050	GM12873	blood:	n/a	n/a
14	CTCF	chr22:30119860-30120010	HBMEC	blood vessel:	n/a	n/a
15	CTCF	chr22:30119860-30120010	GM12869	blood:	n/a	n/a
16	CTCF	chr22:30119872-30120059	MCF-7	breast:	n/a	n/a
17	CTCF	chr22:30119920-30120070	HepG2	liver:	n/a	n/a
18	CTCF	chr22:30119891-30120018	GM12878	blood:	n/a	n/a
19	CTCF	chr22:30119907-30120042	NHEK	skin:	n/a	n/a
20	CTCF	chr22:30119880-30120030	SK-N-SH_RA	brain:	n/a	n/a
21	CTCF	chr22:30119880-30120030	A549	lung:	n/a	n/a
22	CTCF	chr22:30119920-30120070	GM12867	blood:	n/a	n/a
23	CTCF	chr22:30119900-30120050	MCF-7	breast:	n/a	n/a
24	CTCF	chr22:30119900-30120050	WERI-Rb-1	eye:	n/a	n/a
25	CTCF	chr22:30119918-30119996	GM19240	blood:	n/a	n/a
26	CTCF	chr22:30119840-30119990	BJ	skin:	n/a	n/a
27	CTCF	chr22:30119880-30120030	HEEpiC	esophagus:	n/a	n/a
28	RAD21	chr22:30119854-30120050	H1-hESC	embryonic stem cell:	n/a	chr22:30119983-30119992
29	CTCF	chr22:30119900-30120050	SK-N-SH_RA	brain:	n/a	n/a
30	CTCF	chr22:30119820-30119970	HRPEpiC	eye:	n/a	n/a
31	CTCF	chr22:30119751-30120094	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr22:30119846-30120073	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr22:30119922-30119998	GM12892	blood:	n/a	n/a
34	CTCF	chr22:30119840-30119990	HPAF	blood vessel:	n/a	n/a
35	CTCF	chr22:30119880-30120030	GM12873	blood:	n/a	n/a
36	CTCF	chr22:30119860-30120010	HepG2	liver:	n/a	n/a
37	CTCF	chr22:30119820-30119970	GM12873	blood:	n/a	n/a
38	CTCF	chr22:30119860-30120010	HUVEC	blood vessel:	n/a	n/a
39	CTCF	chr22:30119940-30120090	HCT-116	colon:	n/a	n/a
40	CTCF	chr22:30119880-30120030	GM12864	blood:	n/a	n/a
41	CTCF	chr22:30119880-30120030	HRPEpiC	eye:	n/a	n/a
42	CTCF	chr22:30119900-30120050	GM12878	blood:	n/a	n/a
43	CTCF	chr22:30119880-30120030	GM12872	blood:	n/a	n/a
44	CTCF	chr22:30119900-30120050	GM12868	blood:	n/a	n/a
45	CTCF	chr22:30119898-30120039	MCF-7	breast:	n/a	n/a
46	CTCF	chr22:30119890-30120023	MCF-7	breast:	n/a	n/a
47	CTCF	chr22:30119840-30119990	HEK293	kidney:	n/a	n/a
48	CTCF	chr22:30119860-30120010	BE2_C	brain:	n/a	n/a
49	CTCF	chr22:30119860-30120010	GM12871	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30119899..30121884-chr22:30123778..30126684,2	MCF-7	breast:
2	chr22:30118032..30120779-chr22:30154984..30156711,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000232396	TF binding region
ENSG00000239446	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2527343	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2527344	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2527345	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2527346	0.83[EUR][1000 genomes]
rs2527347	0.85[AMR][1000 genomes]
rs56686185	0.90[EUR][1000 genomes]
rs9614037	0.83[ASN][1000 genomes]
rs9620919	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv914963	chr22:30075052-30133579	Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv914964	chr22:30081715-30150549	Bivalent Enhancer Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv515720	chr22:30081715-30163526	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv914966	chr22:30088442-30138548	Weak transcription Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	esv1816879	chr22:30096309-30126906	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1065072	chr22:30102176-30155245	Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv471194	chr22:30103476-30128380	Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv471195	chr22:30103476-30128380	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv914967	chr22:30103476-30133579	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs5763435	MTMR3	cis	Nerve Tibial	GTEx

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30115800-30126200	Weak transcription	Gastric	stomach
2	chr22:30116600-30126400	Weak transcription	Aorta	Aorta
3	chr22:30117000-30137200	Weak transcription	HSMM	muscle
4	chr22:30117200-30126600	Weak transcription	Pancreas	Pancrea
5	chr22:30117200-30133800	Weak transcription	Right Atrium	heart
6	chr22:30117600-30124600	Weak transcription	Spleen	Spleen
7	chr22:30118000-30120000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
8	chr22:30118600-30122800	Weak transcription	Fetal Brain Male	brain
9	chr22:30118800-30122200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr22:30119000-30122800	Weak transcription	NH-A	brain
11	chr22:30119000-30126400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr22:30119400-30120000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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