Variant report

Variant	rs553879633
Chromosome Location	chr22:30117158-30117159
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZBTB7A	chr22:30116621-30117362	ECC-1	luminal epithelium:	n/a	chr22:30116638-30116649
2	BACH1	chr22:30117117-30117164	H1-hESC	embryonic stem cell:	n/a	n/a
3	ZBTB7A	chr22:30116593-30117503	ECC-1	luminal epithelium:	n/a	chr22:30116638-30116649
4	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	chr22:30117148-30117198	NHBE	bronchial:	n/a
2	chr22:30117148-30117198	A549	lung:	n/a
3	chr22:30117148-30117198	HMEC	breast:	n/a
4	chr22:30117148-30117198	PFSK-1	brain:	n/a
5	chr22:30117148-30117198	SAEC	small airway:	n/a
6	chr22:30117148-30117198	HCPEpiC	choroid plexus:	n/a
7	chr22:30117148-30117198	AG10803	skin:	n/a
8	chr22:30117148-30117198	GM12892	blood:	n/a
9	chr22:30117148-30117198	ovcar-3	ovarian:	n/a
10	chr22:30117148-30117198	GM12878	blood:	n/a
11	chr22:30117148-30117198	LNCaP	prostate:	n/a
12	chr22:30117148-30117198	AG09309	skin:	n/a
13	chr22:30117148-30117198	GM19239	blood:	n/a
14	chr22:30117148-30117198	Hela-S3	cervix:	n/a
15	chr22:30117148-30117198	HCF	heart:	n/a
16	chr22:30117148-30117198	GM12891	blood:	n/a
17	chr22:30117148-30117198	MCF-7	breast:	n/a
18	chr22:30117148-30117198	T-47D	breast:	n/a
19	chr22:30117148-30117198	Caco-2	colon:	n/a
20	chr22:30117148-30117198	HAEpiC	amniotic membrane:	n/a
21	chr22:30117148-30117198	HL-60	blood:	n/a
22	chr22:30117148-30117198	BJ	skin:	n/a
23	chr22:30117148-30117198	HEK293	kidney:	embryo
24	chr22:30117148-30117198	HNPCEpiC	eye:	n/a
25	chr22:30117148-30117198	SK-N-MC	brain:	n/a
26	chr22:30117148-30117198	HRE	kidney:	n/a
27	chr22:30117148-30117198	AG04450	lung:	fetal
28	chr22:30117148-30117198	HIPEpiC	eye:	n/a
29	chr22:30117148-30117198	ProgFib	skin:	n/a
30	chr22:30117148-30117198	PrEC	prostate:	n/a
31	chr22:30117148-30117198	NH-A	brain:	n/a
32	chr22:30117148-30117198	U87	brain:	n/a
33	chr22:30117148-30117198	NB4	blood:	n/a
34	chr22:30117148-30117198	NHDF-neo	bronchial:	n/a
35	chr22:30117148-30117198	MCF10A-Er-Src	breast:	n/a
36	chr22:30117148-30117198	HRCEpiC	kidney:	n/a
37	chr22:30117148-30117198	SKMC	muscle:	n/a
38	chr22:30117148-30117198	AG04449	skin:	fetal
39	chr22:30117148-30117198	AG09319	gingival:	n/a
40	chr22:30117148-30117198	NT2-D1	testis:	n/a
41	chr22:30117148-30117198	Hepatocyte	liver:	n/a
42	chr22:30117148-30117198	BE2_C	brain:	n/a
43	chr22:30117148-30117198	SK-N-SH	brain:	n/a
44	chr22:30117148-30117198	HRPEpiC	eye:	n/a
45	chr22:30117148-30117198	CMK	blood:	n/a
46	chr22:30117148-30117198	HCT-116	colon:	n/a
47	chr22:30117148-30117198	HCM	heart:	n/a
48	chr22:30117148-30117198	RPTEC	kidney:	n/a
49	chr22:30117148-30117198	K562	blood:	n/a
50	chr22:30117148-30117198	AoSMC	blood vessel:	n/a

No data

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

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 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
16	esv3400132	chr22:30115377-30118325	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking 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:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30115400-30117200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr22:30115400-30118600	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr22:30115600-30117200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
4	chr22:30115600-30117200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
5	chr22:30115600-30117200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr22:30115600-30117200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr22:30115600-30117200	Active TSS	Right Atrium	heart
8	chr22:30115600-30117200	Bivalent/Poised TSS	HepG2	liver
9	chr22:30115800-30117200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
10	chr22:30115800-30117200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
11	chr22:30115800-30117200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
12	chr22:30115800-30126200	Weak transcription	Gastric	stomach
13	chr22:30116000-30117200	Enhancers	Lung	lung
14	chr22:30116400-30117200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
15	chr22:30116400-30117200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr22:30116400-30117200	Bivalent Enhancer	Esophagus	oesophagus
17	chr22:30116400-30117200	Active TSS	A549	lung
18	chr22:30116600-30117200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr22:30116600-30117200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
20	chr22:30116600-30117200	Enhancers	Primary B cells from cord blood	blood
21	chr22:30116600-30117200	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
22	chr22:30116600-30117200	Bivalent Enhancer	Liver	Liver
23	chr22:30116600-30117200	Enhancers	Pancreas	Pancrea
24	chr22:30116600-30117200	Flanking Bivalent TSS/Enh	Right Ventricle	heart
25	chr22:30116600-30117600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
26	chr22:30116600-30117600	Bivalent Enhancer	Fetal Stomach	stomach
27	chr22:30116600-30126400	Weak transcription	Aorta	Aorta
28	chr22:30116800-30117200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr22:30116800-30117200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
30	chr22:30116800-30117200	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
31	chr22:30116800-30117200	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr22:30116800-30117200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr22:30116800-30117200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
34	chr22:30116800-30117200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
35	chr22:30116800-30117200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
36	chr22:30116800-30117400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr22:30116800-30117600	ZNF genes & repeats	Spleen	Spleen
38	chr22:30117000-30117200	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr22:30117000-30117200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr22:30117000-30117200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
41	chr22:30117000-30117200	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
42	chr22:30117000-30117200	Enhancers	Primary hematopoietic stem cells	blood
43	chr22:30117000-30117200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
44	chr22:30117000-30117200	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
45	chr22:30117000-30117200	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr22:30117000-30117200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr22:30117000-30117200	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr22:30117000-30117200	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
49	chr22:30117000-30117200	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
50	chr22:30117000-30117200	Bivalent Enhancer	Stomach Smooth Muscle	stomach

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