Variant report

Variant	rs16986912
Chromosome Location	chr22:29376531-29376532
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11912198	1.00[EUR][1000 genomes]
rs12627758	0.87[YRI][hapmap]
rs16986908	1.00[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986925	1.00[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986971	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986990	0.87[YRI][hapmap];1.00[ASN][1000 genomes]
rs5752850	1.00[EUR][1000 genomes]
rs5762926	1.00[EUR][1000 genomes]
rs5762930	0.89[EUR][1000 genomes]
rs5762931	0.89[EUR][1000 genomes]
rs5762938	1.00[EUR][1000 genomes]
rs5997413	1.00[ASN][1000 genomes]
rs7292372	1.00[ASN][1000 genomes]
rs73882436	1.00[ASN][1000 genomes]
rs73882438	1.00[ASN][1000 genomes]
rs8137391	0.87[YRI][hapmap];1.00[ASN][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	nsv1064079	chr22:29065528-29456059	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29365800-29394800	Weak transcription	Pancreas	Pancrea
2	chr22:29366000-29379000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr22:29369600-29378800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr22:29372400-29379200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr22:29373000-29376600	Enhancers	K562	blood
6	chr22:29373400-29381400	Weak transcription	Fetal Stomach	stomach
7	chr22:29373400-29390800	Weak transcription	Hela-S3	cervix
8	chr22:29373600-29400200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr22:29373800-29379000	Weak transcription	Placenta	Placenta
10	chr22:29374000-29378600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr22:29374200-29379200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr22:29374200-29381600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr22:29374200-29383000	Weak transcription	Ovary	ovary
14	chr22:29374400-29376600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr22:29374400-29378000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr22:29374400-29378600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr22:29374400-29379200	Weak transcription	Fetal Lung	lung
18	chr22:29374400-29395200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr22:29374600-29377000	Enhancers	A549	lung
20	chr22:29374600-29378000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr22:29374600-29378000	Weak transcription	Stomach Mucosa	stomach
22	chr22:29374600-29378200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr22:29374600-29379000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr22:29374600-29379200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr22:29374600-29379200	Weak transcription	Aorta	Aorta
26	chr22:29374600-29379400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr22:29374600-29380600	Weak transcription	Right Atrium	heart
28	chr22:29374600-29381400	Enhancers	Liver	Liver
29	chr22:29374600-29385000	Weak transcription	Rectal Smooth Muscle	rectum
30	chr22:29374600-29395600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr22:29374600-29400000	Weak transcription	Right Ventricle	heart
32	chr22:29374600-29401200	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr22:29374800-29378600	Weak transcription	Fetal Heart	heart
34	chr22:29374800-29378800	Weak transcription	NHEK	skin
35	chr22:29374800-29384400	Weak transcription	Osteobl	bone
36	chr22:29375000-29377200	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr22:29375000-29379000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr22:29375200-29376800	Enhancers	Fetal Kidney	kidney
39	chr22:29375200-29378800	Weak transcription	HMEC	breast
40	chr22:29375200-29385200	Weak transcription	Brain Substantia Nigra	brain
41	chr22:29375400-29379200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr22:29375400-29379600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr22:29375600-29377000	Enhancers	HepG2	liver
44	chr22:29375600-29378000	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr22:29375600-29379000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr22:29375600-29383000	Weak transcription	Left Ventricle	heart
47	chr22:29375600-29390800	Weak transcription	NHDF-Ad	bronchial
48	chr22:29375800-29377600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr22:29375800-29377600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr22:29375800-29377600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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