Variant report

Variant	rs16989338
Chromosome Location	chr22:31504274-31504275
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr22:31503374-31504319	HCT-116	colon:	n/a	chr22:31503811-31503830
2	CTCF	chr22:31503582-31504333	HCT-116	colon:	n/a	chr22:31503810-31503828 chr22:31503813-31503826
3	CTCF	chr22:31503021-31504348	SK-N-SH	brain:	n/a	chr22:31503810-31503828 chr22:31503813-31503826
4	RAD21	chr22:31502945-31504362	SK-N-SH	brain:	n/a	chr22:31503811-31503830
5	MXI1	chr22:31501535-31504386	IMR90	lung:	n/a	n/a
6	CTCF	chr22:31503615-31504296	A549	lung:	n/a	chr22:31503810-31503828 chr22:31503813-31503826
7	SMC3	chr22:31502947-31504355	SK-N-SH	brain:	n/a	chr22:31503812-31503826

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:31504271-31504321	HepG2	liver:	n/a
2	chr22:31504271-31504321	GM12891	blood:	n/a
3	chr22:31504271-31504321	Caco-2	colon:	n/a
4	chr22:31504271-31504321	BE2_C	brain:	n/a
5	chr22:31504271-31504321	HCPEpiC	choroid plexus:	n/a
6	chr22:31504271-31504321	GM12892	blood:	n/a
7	chr22:31504271-31504321	Hela-S3	cervix:	n/a
8	chr22:31504271-31504321	AG09319	gingival:	n/a
9	chr22:31504271-31504321	GM19239	blood:	n/a
10	chr22:31504271-31504321	Hepatocyte	liver:	n/a
11	chr22:31504271-31504321	NB4	blood:	n/a
12	chr22:31504271-31504321	GM12878	blood:	n/a
13	chr22:31504271-31504321	LNCaP	prostate:	n/a
14	chr22:31504271-31504321	ECC-1	luminal epithelium:	n/a
15	chr22:31504271-31504321	HCF	heart:	n/a
16	chr22:31504271-31504321	MCF10A-Er-Src	breast:	n/a
17	chr22:31504271-31504321	BJ	skin:	n/a
18	chr22:31504271-31504321	HRPEpiC	eye:	n/a
19	chr22:31504271-31504321	SK-N-SH	brain:	n/a
20	chr22:31504271-31504321	SK-N-MC	brain:	n/a
21	chr22:31504271-31504321	MCF-7	breast:	n/a
22	chr22:31504271-31504321	NH-A	brain:	n/a
23	chr22:31504271-31504321	HL-60	blood:	n/a
24	chr22:31504271-31504321	PANC-1	pancreas:	n/a
25	chr22:31504271-31504321	RPTEC	kidney:	n/a
26	chr22:31504271-31504321	NT2-D1	testis:	n/a
27	chr22:31504271-31504321	CMK	blood:	n/a
28	chr22:31504271-31504321	AG04450	lung:	fetal
29	chr22:31504271-31504321	HPAEpiC	pulmonary alveolar:	n/a
30	chr22:31504271-31504321	ProgFib	skin:	n/a
31	chr22:31504271-31504321	GM06990	blood:	n/a
32	chr22:31504271-31504321	T-47D	breast:	n/a
33	chr22:31504271-31504321	HEEpiC	esophagus:	n/a
34	chr22:31504271-31504321	SKMC	muscle:	n/a
35	chr22:31504271-31504321	HRE	kidney:	n/a
36	chr22:31504271-31504321	K562	blood:	n/a
37	chr22:31504271-31504321	AG09309	skin:	n/a
38	chr22:31504271-31504321	HCT-116	colon:	n/a
39	chr22:31504271-31504321	PrEC	prostate:	n/a
40	chr22:31504271-31504321	HUVEC	blood vessel:	n/a
41	chr22:31504271-31504321	SK-N-SH_RA	brain:	n/a
42	chr22:31504271-31504321	NHBE	bronchial:	n/a
43	chr22:31504271-31504321	HMEC	breast:	n/a
44	chr22:31504271-31504321	PFSK-1	brain:	n/a
45	chr22:31504271-31504321	HCM	heart:	n/a
46	chr22:31504271-31504321	AG04449	skin:	fetal
47	chr22:31504271-31504321	Jurkat	blood:	n/a
48	chr22:31504271-31504321	HNPCEpiC	eye:	n/a
49	chr22:31504271-31504321	NHDF-neo	bronchial:	n/a
50	chr22:31504271-31504321	AG10803	skin:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:31500412..31502253-chr22:31504112..31506575,2	MCF-7	breast:
2	chr22:31476077..31485695-chr22:31490616..31506508,29	K562	blood:
3	chr22:31503716..31506143-chr22:31686783..31689099,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000235573	TF binding region
ENSG00000198832	TF binding region
ENSG00000198832	CpG island
ENSG00000235573	CpG island
ENSG00000183963	Chromatin interaction
ENSG00000100100	Chromatin interaction
ENSG00000198832	Chromatin interaction
ENSG00000273387	Chromatin interaction
ENSG00000228839	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs61744432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61747459	1.00[AMR][1000 genomes]
rs8141014	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv9896	chr22:31369204-31513933	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv829173	chr22:31450043-31543956	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv914975	chr22:31466083-31514477	Active TSS Flanking Active TSS Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv914976	chr22:31475307-31543260	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv914977	chr22:31477563-31514477	Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv964621	chr22:31503851-31509520	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr22:31502600-31504400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:31502600-31504400	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr22:31503200-31504400	Flanking Active TSS	Dnd41	blood
4	chr22:31503400-31504400	Enhancers	Stomach Mucosa	stomach
5	chr22:31503600-31504400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr22:31503800-31504400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr22:31503800-31504400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
8	chr22:31503800-31504400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr22:31503800-31504400	Flanking Active TSS	Fetal Intestine Large	intestine
10	chr22:31503800-31504400	Enhancers	Spleen	Spleen
11	chr22:31503800-31504400	Flanking Active TSS	Hela-S3	cervix
12	chr22:31504000-31504400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr22:31504000-31504400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr22:31504000-31504400	Flanking Active TSS	Brain Germinal Matrix	brain
15	chr22:31504000-31504400	Flanking Active TSS	Fetal Brain Female	brain
16	chr22:31504200-31504400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr22:31504200-31504400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr22:31504200-31504400	Enhancers	Primary B cells from peripheral blood	blood
19	chr22:31504200-31504400	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr22:31504200-31504400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr22:31504200-31504400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr22:31504200-31504400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr22:31504200-31504400	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr22:31504200-31504400	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr22:31504200-31504400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr22:31504200-31504400	Enhancers	Adipose Nuclei	Adipose
27	chr22:31504200-31504400	Enhancers	Liver	Liver
28	chr22:31504200-31504400	Enhancers	Brain Anterior Caudate	brain
29	chr22:31504200-31504400	Enhancers	Brain Hippocampus Middle	brain
30	chr22:31504200-31504400	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr22:31504200-31504400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr22:31504200-31504400	Enhancers	Colon Smooth Muscle	Colon
33	chr22:31504200-31504400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr22:31504200-31504400	Enhancers	Fetal Intestine Small	intestine
35	chr22:31504200-31504400	Enhancers	Fetal Muscle Leg	muscle
36	chr22:31504200-31504400	Bivalent Enhancer	Fetal Thymus	thymus
37	chr22:31504200-31504400	Enhancers	Lung	lung
38	chr22:31504200-31504400	Enhancers	Rectal Smooth Muscle	rectum
39	chr22:31504200-31504400	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr22:31504200-31504400	Enhancers	Stomach Smooth Muscle	stomach
41	chr22:31504200-31504400	Bivalent/Poised TSS	Thymus	Thymus
42	chr22:31504200-31504400	Enhancers	HepG2	liver
43	chr22:31504200-31504400	Active TSS	HSMMtube	muscle
44	chr22:31504200-31504400	Enhancers	K562	blood
45	chr22:31504200-31504400	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr22:31504200-31504400	Enhancers	NH-A	brain
47	chr22:31504200-31504400	Enhancers	Osteobl	bone
48	chr22:31504200-31504600	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr22:31504200-31504600	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr22:31504200-31504600	Enhancers	Primary T cells fromperipheralblood	blood

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