Variant report

Variant	rs16988763
Chromosome Location	chr22:30947063-30947064
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:30947032-30947082	HepG2	liver:	n/a
2	chr22:30947032-30947082	MCF-7	breast:	n/a
3	chr22:30947032-30947082	U87	brain:	n/a
4	chr22:30947032-30947082	NHDF-neo	bronchial:	n/a
5	chr22:30947032-30947082	AG09319	gingival:	n/a
6	chr22:30947032-30947082	GM12891	blood:	n/a
7	chr22:30947032-30947082	MCF10A-Er-Src	breast:	n/a
8	chr22:30947032-30947082	HRE	kidney:	n/a
9	chr22:30947032-30947082	NT2-D1	testis:	n/a
10	chr22:30947032-30947082	HCF	heart:	n/a
11	chr22:30947032-30947082	AG09309	skin:	n/a
12	chr22:30947032-30947082	HCM	heart:	n/a
13	chr22:30947032-30947082	H1-hESC	embryonic stem cell:	embryo
14	chr22:30947032-30947082	SK-N-SH_RA	brain:	n/a
15	chr22:30947032-30947082	GM12892	blood:	n/a
16	chr22:30947032-30947082	GM06990	blood:	n/a
17	chr22:30947032-30947082	Hela-S3	cervix:	n/a
18	chr22:30947032-30947082	HPAEpiC	pulmonary alveolar:	n/a
19	chr22:30947032-30947082	A549	lung:	n/a
20	chr22:30947032-30947082	T-47D	breast:	n/a
21	chr22:30947032-30947082	BJ	skin:	n/a
22	chr22:30947032-30947082	HEEpiC	esophagus:	n/a
23	chr22:30947032-30947082	HEK293	kidney:	embryo
24	chr22:30947032-30947082	RPTEC	kidney:	n/a
25	chr22:30947032-30947082	K562	blood:	n/a
26	chr22:30947032-30947082	ECC-1	luminal epithelium:	n/a
27	chr22:30947032-30947082	LNCaP	prostate:	n/a
28	chr22:30947032-30947082	BE2_C	brain:	n/a
29	chr22:30947032-30947082	SAEC	small airway:	n/a
30	chr22:30947032-30947082	HCT-116	colon:	n/a
31	chr22:30947032-30947082	NH-A	brain:	n/a
32	chr22:30947032-30947082	SKMC	muscle:	n/a
33	chr22:30947032-30947082	HIPEpiC	eye:	n/a
34	chr22:30947032-30947082	SK-N-MC	brain:	n/a
35	chr22:30947032-30947082	PANC-1	pancreas:	n/a
36	chr22:30947032-30947082	HCPEpiC	choroid plexus:	n/a
37	chr22:30947032-30947082	ProgFib	skin:	n/a
38	chr22:30947032-30947082	GM12878	blood:	n/a
39	chr22:30947032-30947082	PrEC	prostate:	n/a
40	chr22:30947032-30947082	HRCEpiC	kidney:	n/a
41	chr22:30947032-30947082	Caco-2	colon:	n/a
42	chr22:30947032-30947082	HAEpiC	amniotic membrane:	n/a
43	chr22:30947032-30947082	AG10803	skin:	n/a
44	chr22:30947032-30947082	PFSK-1	brain:	n/a
45	chr22:30947032-30947082	IMR90	lung:	fetal
46	chr22:30947032-30947082	HUVEC	blood vessel:	n/a
47	chr22:30947032-30947082	AoSMC	blood vessel:	n/a
48	chr22:30947032-30947082	AG04450	lung:	fetal
49	chr22:30947032-30947082	Hepatocyte	liver:	n/a
50	chr22:30947032-30947082	HNPCEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr22:30937863..30940119-chr22:30944343..30947078,2	K562	blood:
2	chr22:30944354..30947265-chr22:30983776..30986194,2	K562	blood:
3	chr22:30947026..30952194-chr22:30953690..30959543,7	K562	blood:
4	chr22:30944354..30947230-chr22:30983776..30986152,2	K562	blood:

No data

Variant related genes	Relation type
SEC14L6	CpG island
ENSG00000128242	Chromatin interaction
ENSG00000100029	Chromatin interaction
ENSG00000225774	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10427765	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12158119	1.00[AMR][1000 genomes]
rs12159979	1.00[AMR][1000 genomes]
rs34765878	1.00[AMR][1000 genomes]
rs5997635	1.00[AMR][1000 genomes]
rs5997644	1.00[AMR][1000 genomes]
rs5997649	1.00[AMR][1000 genomes]
rs73394240	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881452	1.00[AMR][1000 genomes]
rs73881454	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 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	chr22:30939000-30949800	Weak transcription	Brain Angular Gyrus	brain
2	chr22:30939000-30950800	Weak transcription	Pancreas	Pancrea
3	chr22:30939000-30951400	Weak transcription	Ovary	ovary
4	chr22:30939000-30962000	Weak transcription	Liver	Liver
5	chr22:30939200-30949800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr22:30939200-30951000	Weak transcription	Brain Substantia Nigra	brain
7	chr22:30939200-30951000	Weak transcription	Gastric	stomach
8	chr22:30939400-30950200	Weak transcription	Brain Anterior Caudate	brain
9	chr22:30942200-30949000	Weak transcription	Fetal Intestine Small	intestine
10	chr22:30943400-30949000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr22:30943400-30951000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr22:30944800-30968000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr22:30945600-30951400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr22:30945800-30957400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr22:30946000-30949600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr22:30946200-30950400	Weak transcription	Fetal Stomach	stomach
17	chr22:30946200-30957600	Weak transcription	Spleen	Spleen
18	chr22:30946400-30949400	Weak transcription	Fetal Intestine Large	intestine
19	chr22:30946400-30955600	Weak transcription	HepG2	liver
20	chr22:30947000-30951000	Weak transcription	Rectal Mucosa Donor 29	rectum

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