Variant report

Variant	rs9614159
Chromosome Location	chr22:30601243-30601244
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30593597..30595321-chr22:30600135..30601730,2	K562	blood:
2	chr22:30592298..30595321-chr22:30600135..30602217,3	K562	blood:
3	chr22:30600518..30603071-chr22:30604454..30606610,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17728461	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2023682	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2023683	0.88[AFR][1000 genomes]
rs41162	0.90[YRI][hapmap]
rs718772	1.00[LWK][hapmap];0.90[YRI][hapmap]
rs8141404	1.00[LWK][hapmap];0.90[YRI][hapmap]
rs9614157	1.00[ASN][1000 genomes]
rs9614158	0.88[AFR][1000 genomes]
rs9614160	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs9614161	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9614162	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.95[TSI][hapmap];0.91[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9625919	0.90[YRI][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	esv3441265	chr22:30597552-30601950	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
6	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

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs9614159	CRYBB1	cis	cerebellum	SCAN
rs9614159	LRP5L	cis	cerebellum	SCAN
rs9614159	KIAA1671	cis	cerebellum	SCAN
rs9614159	TTC28	cis	cerebellum	SCAN
rs9614159	MTMR3	cis	parietal	SCAN
rs9614159	SMTN	cis	parietal	SCAN
rs9614159	C22orf42	cis	cerebellum	SCAN

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30592000-30601400	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr22:30592800-30602800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr22:30592800-30604800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr22:30593600-30603000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr22:30597600-30603000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr22:30597600-30609800	Enhancers	Stomach Mucosa	stomach
7	chr22:30597600-30610000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr22:30597800-30602400	Enhancers	Duodenum Mucosa	Duodenum
9	chr22:30598200-30601800	Enhancers	Esophagus	oesophagus
10	chr22:30598400-30601800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr22:30598600-30601400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr22:30598600-30607000	Enhancers	Placenta	Placenta
13	chr22:30599000-30601400	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr22:30599000-30602800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr22:30599000-30605200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr22:30599200-30601600	Weak transcription	Fetal Intestine Large	intestine
17	chr22:30599200-30602800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr22:30599400-30601400	Enhancers	Gastric	stomach
19	chr22:30599800-30602800	Weak transcription	Lung	lung
20	chr22:30599800-30605600	Enhancers	NHLF	lung
21	chr22:30600000-30601400	Enhancers	A549	lung
22	chr22:30600000-30601600	Weak transcription	Hela-S3	cervix
23	chr22:30600000-30602200	Enhancers	Fetal Lung	lung
24	chr22:30600000-30603600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr22:30600000-30604200	Weak transcription	Fetal Kidney	kidney
26	chr22:30600000-30605000	Weak transcription	Pancreas	Pancrea
27	chr22:30600200-30601800	Enhancers	Fetal Thymus	thymus
28	chr22:30600200-30607800	Enhancers	NH-A	brain
29	chr22:30600400-30601400	Enhancers	Osteobl	bone
30	chr22:30600400-30601800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
31	chr22:30600400-30601800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
32	chr22:30600400-30606000	Enhancers	Ovary	ovary
33	chr22:30600400-30607000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr22:30600400-30607000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr22:30600400-30607200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr22:30600400-30610000	Enhancers	HMEC	breast
37	chr22:30600600-30601600	Enhancers	Brain Cingulate Gyrus	brain
38	chr22:30600600-30601600	Enhancers	Brain Hippocampus Middle	brain
39	chr22:30600600-30601800	Enhancers	Colonic Mucosa	Colon
40	chr22:30600600-30602000	Enhancers	Brain Anterior Caudate	brain
41	chr22:30600600-30602200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr22:30600600-30602200	Enhancers	Colon Smooth Muscle	Colon
43	chr22:30600600-30602200	Enhancers	Spleen	Spleen
44	chr22:30600600-30603800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr22:30600600-30605000	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr22:30600800-30601600	Weak transcription	Brain Substantia Nigra	brain
47	chr22:30600800-30601800	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr22:30600800-30602000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr22:30600800-30606200	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr22:30601000-30601400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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