Variant report

Variant	rs16988402
Chromosome Location	chr22:30613841-30613842
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30605936..30608865-chr22:30612032..30614985,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12483946	1.00[CEU][hapmap];0.81[AFR][1000 genomes]
rs12484740	1.00[CEU][hapmap];0.81[AFR][1000 genomes]
rs1476514	1.00[CEU][hapmap]
rs16988410	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2073946	0.80[ASN][1000 genomes]
rs2078856	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs5753014	1.00[CEU][hapmap]
rs5753048	1.00[CEU][hapmap]
rs5763701	1.00[CEU][hapmap]
rs5763734	1.00[CEU][hapmap]
rs5763746	1.00[CEU][hapmap]
rs67087719	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73404522	0.93[AFR][1000 genomes]
rs757026	1.00[CEU][hapmap]
rs975704	1.00[CEU][hapmap]

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	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
2	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
3	nsv834173	chr22:30515092-30658277	Enhancers ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv432239	chr22:30580161-30669883	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	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
6	nsv914968	chr22:30610570-30693581	Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30605600-30622600	Weak transcription	Right Atrium	heart
2	chr22:30609600-30615200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr22:30609600-30616200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr22:30609800-30614600	Weak transcription	Hela-S3	cervix
5	chr22:30609800-30615200	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr22:30609800-30615200	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr22:30609800-30616400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr22:30609800-30616600	Weak transcription	Spleen	Spleen
9	chr22:30609800-30617800	Weak transcription	Esophagus	oesophagus
10	chr22:30610600-30615600	Enhancers	K562	blood
11	chr22:30610800-30615200	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr22:30611200-30614000	Weak transcription	NH-A	brain
13	chr22:30611200-30624800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr22:30611400-30616200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr22:30611600-30615200	Weak transcription	Fetal Thymus	thymus
16	chr22:30611600-30615800	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr22:30612400-30614400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr22:30612600-30615600	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr22:30612600-30615600	Enhancers	Fetal Intestine Small	intestine
20	chr22:30613000-30615600	Enhancers	Fetal Intestine Large	intestine
21	chr22:30613000-30615800	Enhancers	A549	lung
22	chr22:30613400-30614400	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr22:30613400-30614400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr22:30613400-30614400	Enhancers	HSMM	muscle
25	chr22:30613400-30614600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr22:30613400-30614600	Enhancers	Muscle Satellite Cultured Cells	--
27	chr22:30613400-30614600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
28	chr22:30613400-30614600	Enhancers	HSMMtube	muscle
29	chr22:30613400-30614600	Enhancers	NHDF-Ad	bronchial
30	chr22:30613400-30614600	Enhancers	NHLF	lung
31	chr22:30613400-30614600	Enhancers	Osteobl	bone
32	chr22:30613400-30614800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr22:30613400-30615600	Enhancers	HMEC	breast
34	chr22:30613600-30614000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr22:30613600-30614000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr22:30613600-30614000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr22:30613600-30614200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr22:30613600-30614200	Enhancers	Fetal Brain Male	brain
39	chr22:30613600-30614400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr22:30613600-30614400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr22:30613600-30614400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr22:30613600-30614400	Enhancers	Duodenum Mucosa	Duodenum
43	chr22:30613600-30614600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr22:30613600-30614600	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr22:30613600-30614600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr22:30613600-30614600	Bivalent Enhancer	Fetal Muscle Leg	muscle
47	chr22:30613600-30614600	Enhancers	HepG2	liver
48	chr22:30613600-30614800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr22:30613600-30615400	Enhancers	Fetal Stomach	stomach
50	chr22:30613800-30614000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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