Variant report

Variant	rs16986861
Chromosome Location	chr22:29343188-29343189
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29343042..29345424-chr22:29425071..29426674,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1222	0.94[CEU][hapmap]
rs13056243	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13058031	0.94[CEU][hapmap]
rs13058453	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16986825	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16986838	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16986864	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2267131	0.88[CEU][hapmap]
rs2301428	0.88[CEU][hapmap]
rs28360615	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34578331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4055	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5752797	0.89[CEU][hapmap]
rs5752803	0.88[CEU][hapmap]
rs5752811	0.94[CEU][hapmap]
rs5762780	0.82[CEU][hapmap]
rs5762799	0.89[CEU][hapmap]
rs5762814	0.94[CEU][hapmap]
rs5762816	0.94[CEU][hapmap]
rs739196	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs916332	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29332600-29347600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr22:29333800-29347800	Weak transcription	Gastric	stomach
3	chr22:29335800-29347800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr22:29336200-29347600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr22:29338600-29347600	Weak transcription	Left Ventricle	heart
6	chr22:29339600-29345400	Weak transcription	Lung	lung
7	chr22:29339600-29345600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr22:29339600-29346800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr22:29339600-29347600	Weak transcription	Pancreas	Pancrea
10	chr22:29339800-29347600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr22:29339800-29352600	Weak transcription	Stomach Mucosa	stomach
12	chr22:29340000-29345600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr22:29340000-29345800	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr22:29340000-29349200	Weak transcription	Aorta	Aorta
15	chr22:29340400-29345600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr22:29341800-29343200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr22:29342000-29344600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr22:29342400-29343800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr22:29342400-29343800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr22:29342400-29344400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr22:29342400-29344400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr22:29342600-29343400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
23	chr22:29342600-29343400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
24	chr22:29342600-29343800	ZNF genes & repeats	Fetal Brain Male	brain
25	chr22:29342600-29344000	ZNF genes & repeats	Fetal Intestine Large	intestine
26	chr22:29342800-29343400	ZNF genes & repeats	Brain Substantia Nigra	brain
27	chr22:29342800-29343400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
28	chr22:29342800-29343600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
29	chr22:29342800-29343800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
30	chr22:29343000-29343600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr22:29343000-29343600	ZNF genes & repeats	Brain Angular Gyrus	brain
32	chr22:29343000-29345600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr22:29343000-29346000	Enhancers	HepG2	liver
34	chr22:29343000-29346200	Weak transcription	Small Intestine	intestine
35	chr22:29343000-29347800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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