Variant report

Variant	rs4823005
Chromosome Location	chr22:29413785-29413786
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29411681..29414398-chr22:29425375..29427146,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs12484832	0.92[CEU][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs132565	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17440734	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1883197	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1983553	1.00[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2064084	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2072774	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2347790	0.96[CEU][hapmap];0.82[EUR][1000 genomes]
rs28541979	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4140643	0.96[CEU][hapmap];0.83[CHB][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4404379	0.85[EUR][1000 genomes]
rs4580479	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs469994	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4820794	0.96[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4823002	0.93[CEU][hapmap];0.83[CHB][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4823003	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5997432	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5997433	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs5997435	0.90[ASN][1000 genomes]
rs6005954	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6005955	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs6005956	0.96[CEU][hapmap]
rs6005958	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6005964	0.96[CEU][hapmap];0.80[YRI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6005965	0.96[CEU][hapmap];0.83[JPT][hapmap];0.93[YRI][hapmap];0.81[ASN][1000 genomes]
rs6005967	0.93[CEU][hapmap]
rs713834	0.93[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs727892	0.96[CEU][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs7290304	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs738246	0.92[CEU][hapmap]
rs8137254	0.96[CEU][hapmap];0.85[AMR][1000 genomes]
rs8137499	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs874917	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9608719	0.93[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9608720	0.80[CEU][hapmap]
rs9608721	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9613771	0.81[EUR][1000 genomes]
rs9613776	0.96[CEU][hapmap]
rs9613777	0.96[CEU][hapmap]
rs9613780	0.80[CEU][hapmap]
rs9613784	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9613785	0.93[CEU][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs964589	0.93[CEU][hapmap];0.81[EUR][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:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29400600-29425400	Weak transcription	NHEK	skin
2	chr22:29401400-29414800	Weak transcription	Esophagus	oesophagus
3	chr22:29401400-29419200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr22:29401400-29425000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr22:29401800-29426200	Weak transcription	Colon Smooth Muscle	Colon
6	chr22:29405200-29418000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr22:29405400-29424600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr22:29408200-29419400	Weak transcription	Fetal Stomach	stomach
9	chr22:29408200-29419400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr22:29408200-29422600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr22:29408600-29419400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr22:29408600-29419400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr22:29409200-29414800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr22:29409400-29414800	Weak transcription	Aorta	Aorta
15	chr22:29409600-29413800	Weak transcription	Fetal Lung	lung
16	chr22:29410400-29416000	Enhancers	Liver	Liver
17	chr22:29410400-29419200	Weak transcription	Right Atrium	heart
18	chr22:29410400-29424800	Weak transcription	Psoas Muscle	Psoas
19	chr22:29410800-29418000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr22:29411000-29414800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr22:29411000-29414800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr22:29411000-29417800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr22:29411000-29418400	Weak transcription	Right Ventricle	heart
24	chr22:29411000-29418800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr22:29411000-29419200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr22:29411000-29419400	Weak transcription	Left Ventricle	heart
27	chr22:29411000-29422200	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr22:29411600-29414800	Enhancers	Fetal Intestine Small	intestine
29	chr22:29411800-29414000	Enhancers	Duodenum Mucosa	Duodenum
30	chr22:29412000-29413800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr22:29412000-29413800	Enhancers	Pancreas	Pancrea
32	chr22:29412000-29414400	Enhancers	Fetal Kidney	kidney
33	chr22:29412000-29415000	Enhancers	Fetal Intestine Large	intestine
34	chr22:29412400-29419400	Weak transcription	K562	blood
35	chr22:29412400-29424200	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr22:29412600-29414400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr22:29412600-29414400	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr22:29412600-29415800	Genic enhancers	HepG2	liver
39	chr22:29412600-29418200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr22:29412600-29418200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr22:29412800-29414200	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr22:29412800-29418200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr22:29412800-29419400	Weak transcription	Brain Cingulate Gyrus	brain
44	chr22:29413000-29418000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr22:29413400-29413800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr22:29413600-29415400	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr22:29413600-29417800	Weak transcription	A549	lung
48	chr22:29413600-29419400	Weak transcription	Stomach Mucosa	stomach

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