Variant report

Variant	rs3788434
Chromosome Location	chr22:31867703-31867704
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31867263..31868960-chr22:31885475..31887155,2	K562	blood:
2	22:31864703-31891033..22:31936958-31958600	GM12878	blood:
3	22:31864703-31891033..22:31930706-31935473	GM12878	blood:
4	22:31864703-31891033..22:32347255-32351014	K562	blood:

Variant related genes	Relation type
ENSG00000214093	Chromatin interaction
ENSG00000184708	Chromatin interaction
ENSG00000238910	Chromatin interaction
ENSG00000229169	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10483159	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11089501	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11089502	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11089503	0.82[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11089504	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12165685	1.00[EUR][1000 genomes]
rs12168242	1.00[EUR][1000 genomes]
rs12169794	0.92[AMR][1000 genomes]
rs12484188	0.86[ASN][1000 genomes]
rs12484233	0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12484858	0.86[ASN][1000 genomes]
rs12484966	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12485048	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs12485176	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12485177	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17820958	1.00[EUR][1000 genomes]
rs17821132	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1859677	1.00[EUR][1000 genomes]
rs1968024	1.00[EUR][1000 genomes]
rs2073856	1.00[EUR][1000 genomes]
rs2073859	1.00[EUR][1000 genomes]
rs2073860	1.00[EUR][1000 genomes]
rs2073861	1.00[EUR][1000 genomes]
rs2158779	1.00[EUR][1000 genomes]
rs2240424	1.00[EUR][1000 genomes]
rs2267168	1.00[EUR][1000 genomes]
rs2273248	0.86[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2283882	1.00[EUR][1000 genomes]
rs2295240	0.86[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes]
rs2295241	0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs28678535	1.00[EUR][1000 genomes]
rs28872513	1.00[EUR][1000 genomes]
rs35208364	0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3747153	1.00[EUR][1000 genomes]
rs3747154	1.00[EUR][1000 genomes]
rs3747155	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3788435	0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs5749236	1.00[EUR][1000 genomes]
rs5749239	1.00[EUR][1000 genomes]
rs5749240	1.00[EUR][1000 genomes]
rs5749247	1.00[EUR][1000 genomes]
rs5749252	1.00[EUR][1000 genomes]
rs5749255	1.00[EUR][1000 genomes]
rs5749258	1.00[EUR][1000 genomes]
rs5749262	1.00[EUR][1000 genomes]
rs5749263	1.00[EUR][1000 genomes]
rs5753516	1.00[EUR][1000 genomes]
rs5753519	1.00[EUR][1000 genomes]
rs5753525	1.00[EUR][1000 genomes]
rs5753526	1.00[EUR][1000 genomes]
rs5753527	1.00[EUR][1000 genomes]
rs5753529	1.00[EUR][1000 genomes]
rs5753532	1.00[EUR][1000 genomes]
rs5753534	1.00[EUR][1000 genomes]
rs5753535	1.00[EUR][1000 genomes]
rs5753540	1.00[EUR][1000 genomes]
rs5753555	1.00[EUR][1000 genomes]
rs5753556	1.00[EUR][1000 genomes]
rs5753566	1.00[EUR][1000 genomes]
rs5753569	1.00[EUR][1000 genomes]
rs5753571	1.00[EUR][1000 genomes]
rs5753572	1.00[EUR][1000 genomes]
rs5753632	1.00[YRI][hapmap]
rs58856347	1.00[EUR][1000 genomes]
rs59416609	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7287937	0.86[CHB][hapmap]
rs7292620	1.00[EUR][1000 genomes]
rs7293134	1.00[JPT][hapmap]
rs73396257	1.00[EUR][1000 genomes]
rs9619178	1.00[EUR][1000 genomes]
rs9621226	1.00[EUR][1000 genomes]
rs9621236	1.00[EUR][1000 genomes]
rs9621247	1.00[EUR][1000 genomes]
rs9621252	1.00[EUR][1000 genomes]
rs9621261	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9621263	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9621264	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9621265	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9621270	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063634	chr22:31797004-31921254	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv459872	chr22:31833759-31977594	Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
3	nsv588894	chr22:31833759-31977594	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
4	esv1791934	chr22:31846234-31874194	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31797000-31884400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:31797000-31884400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr22:31815000-31868200	Strong transcription	Dnd41	blood
4	chr22:31815000-31883400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr22:31823600-31884600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr22:31832600-31867800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr22:31836200-31873600	Weak transcription	Stomach Mucosa	stomach
8	chr22:31846400-31872000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr22:31847600-31881800	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr22:31847800-31868200	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr22:31848000-31868000	Strong transcription	Primary T helper cells PMA-I stimulated	--
12	chr22:31848000-31868400	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr22:31848200-31867800	Strong transcription	Primary B cells from peripheral blood	blood
14	chr22:31848200-31868200	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr22:31848200-31868400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr22:31848600-31868000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr22:31848600-31868400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr22:31848800-31883000	Weak transcription	Fetal Heart	heart
19	chr22:31850200-31871400	Strong transcription	GM12878-XiMat	blood
20	chr22:31850800-31876800	Weak transcription	Esophagus	oesophagus
21	chr22:31854200-31868200	Strong transcription	Fetal Muscle Trunk	muscle
22	chr22:31854800-31884600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr22:31856400-31867800	Strong transcription	Fetal Intestine Small	intestine
24	chr22:31856800-31885000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr22:31858200-31877800	Weak transcription	Fetal Brain Male	brain
26	chr22:31858400-31884600	Weak transcription	Psoas Muscle	Psoas
27	chr22:31859000-31875200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr22:31859200-31873600	Weak transcription	A549	lung
29	chr22:31859400-31871800	Weak transcription	Hela-S3	cervix
30	chr22:31859400-31873800	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr22:31859400-31883800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr22:31859400-31884800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr22:31859800-31873600	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr22:31860000-31873800	Weak transcription	Colonic Mucosa	Colon
35	chr22:31860000-31882600	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr22:31860200-31875800	Weak transcription	Brain Angular Gyrus	brain
37	chr22:31860200-31884800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr22:31861200-31868000	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr22:31861200-31868200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr22:31861200-31868600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr22:31861200-31871400	Strong transcription	Primary T cells from cord blood	blood
42	chr22:31861400-31868200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr22:31861600-31873600	Weak transcription	NHEK	skin
44	chr22:31861800-31867800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr22:31862000-31867800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr22:31862200-31867800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr22:31862400-31868200	Strong transcription	HUVEC	blood vessel
48	chr22:31862600-31867800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr22:31862800-31868400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr22:31863000-31877600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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