Variant report

Variant	rs571236289
Chromosome Location	chr22:30115217-30115218
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr22:30114792-30115577	SK-N-SH	brain:	n/a	chr22:30115462-30115475
2	SUZ12	chr22:30115076-30117639	NT2-D1	testis:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:30115203-30115253	MCF-7	breast:	n/a
2	chr22:30115203-30115253	PrEC	prostate:	n/a
3	chr22:30115203-30115253	SAEC	small airway:	n/a
4	chr22:30115203-30115253	MCF10A-Er-Src	breast:	n/a
5	chr22:30115203-30115253	HCPEpiC	choroid plexus:	n/a
6	chr22:30115203-30115253	HEEpiC	esophagus:	n/a
7	chr22:30115203-30115253	Hela-S3	cervix:	n/a
8	chr22:30115203-30115253	LNCaP	prostate:	n/a
9	chr22:30115203-30115253	NH-A	brain:	n/a
10	chr22:30115203-30115253	SK-N-SH	brain:	n/a
11	chr22:30115203-30115253	HCF	heart:	n/a
12	chr22:30115203-30115253	HEK293	kidney:	embryo
13	chr22:30115203-30115253	K562	blood:	n/a
14	chr22:30115203-30115253	AG04450	lung:	fetal
15	chr22:30115203-30115253	Jurkat	blood:	n/a
16	chr22:30115203-30115253	HPAEpiC	pulmonary alveolar:	n/a
17	chr22:30115203-30115253	T-47D	breast:	n/a
18	chr22:30115203-30115253	HRCEpiC	kidney:	n/a
19	chr22:30115203-30115253	RPTEC	kidney:	n/a
20	chr22:30115203-30115253	PANC-1	pancreas:	n/a
21	chr22:30115203-30115253	AG09319	gingival:	n/a
22	chr22:30115203-30115253	HCM	heart:	n/a
23	chr22:30115203-30115253	AG10803	skin:	n/a
24	chr22:30115203-30115253	GM06990	blood:	n/a
25	chr22:30115203-30115253	HRPEpiC	eye:	n/a
26	chr22:30115203-30115253	AG04449	skin:	fetal
27	chr22:30115203-30115253	HepG2	liver:	n/a
28	chr22:30115203-30115253	SK-N-MC	brain:	n/a
29	chr22:30115203-30115253	Caco-2	colon:	n/a
30	chr22:30115203-30115253	HAEpiC	amniotic membrane:	n/a
31	chr22:30115203-30115253	BJ	skin:	n/a
32	chr22:30115203-30115253	HNPCEpiC	eye:	n/a
33	chr22:30115203-30115253	PFSK-1	brain:	n/a
34	chr22:30115203-30115253	SKMC	muscle:	n/a
35	chr22:30115203-30115253	ProgFib	skin:	n/a
36	chr22:30115203-30115253	NT2-D1	testis:	n/a
37	chr22:30115203-30115253	GM12891	blood:	n/a
38	chr22:30115203-30115253	SK-N-SH_RA	brain:	n/a
39	chr22:30115203-30115253	GM12892	blood:	n/a
40	chr22:30115203-30115253	HL-60	blood:	n/a
41	chr22:30115203-30115253	A549	lung:	n/a
42	chr22:30115203-30115253	GM19239	blood:	n/a
43	chr22:30115203-30115253	NHDF-neo	bronchial:	n/a
44	chr22:30115203-30115253	IMR90	lung:	fetal
45	chr22:30115203-30115253	HMEC	breast:	n/a
46	chr22:30115203-30115253	HRE	kidney:	n/a
47	chr22:30115203-30115253	HUVEC	blood vessel:	n/a
48	chr22:30115203-30115253	GM12878	blood:	n/a
49	chr22:30115203-30115253	BE2_C	brain:	n/a
50	chr22:30115203-30115253	NHBE	bronchial:	n/a

No data

Variant related genes	Relation type
CABP7	TF binding region
CABP7	CpG island

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 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
13	esv3526937	chr22:30114552-30117950	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	esv3526938	chr22:30114552-30117950	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	esv3398420	chr22:30115152-30117775	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30098800-30115600	Weak transcription	Right Atrium	heart
2	chr22:30112800-30116600	Weak transcription	Pancreas	Pancrea
3	chr22:30114400-30115800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr22:30114800-30115400	Bivalent Enhancer	Fetal Brain Male	brain
5	chr22:30114800-30115600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr22:30114800-30115600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr22:30114800-30115800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr22:30114800-30115800	Bivalent Enhancer	Right Ventricle	heart
9	chr22:30114800-30115800	Enhancers	A549	lung
10	chr22:30115000-30115600	Flanking Active TSS	Fetal Brain Female	brain
11	chr22:30115000-30115800	Enhancers	Gastric	stomach
12	chr22:30115000-30116200	Bivalent Enhancer	Spleen	Spleen
13	chr22:30115200-30115600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
14	chr22:30115200-30115600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr22:30115200-30115600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr22:30115200-30115600	Bivalent Enhancer	HepG2	liver
17	chr22:30115200-30115800	Bivalent Enhancer	Colon Smooth Muscle	Colon
18	chr22:30115200-30115800	Bivalent Enhancer	Esophagus	oesophagus
19	chr22:30115200-30116000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
20	chr22:30115200-30116000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon

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