Variant report

Variant	rs7444322
Chromosome Location	chr5:70781754-70781755
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:70761475..70763695-chr5:70779262..70782933,3	K562	blood:
2	chr5:70780373..70782850-chr5:70784196..70785827,2	K562	blood:
3	chr5:70779922..70782030-chr5:70836622..70838928,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10044572	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10055460	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10064079	0.80[TSI][hapmap]
rs10064099	0.82[EUR][1000 genomes]
rs10077085	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10434642	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10474383	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10805884	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10942284	0.90[EUR][1000 genomes]
rs10942533	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10942682	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10942700	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10942702	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10942705	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11743135	0.94[EUR][1000 genomes]
rs11746722	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12152748	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12153571	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12514732	0.94[EUR][1000 genomes]
rs12516456	1.00[CEU][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];0.90[MEX][hapmap];0.93[TSI][hapmap]
rs12652715	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs13157835	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3748043	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4062889	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4505929	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5005863	0.87[EUR][1000 genomes]
rs62361818	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6452722	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6452900	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6453013	0.85[EUR][1000 genomes]
rs6453014	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6453018	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6453035	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6453043	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6872235	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6872671	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6877289	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6877773	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6886336	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6898471	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs715747	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7378662	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7380115	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7380280	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7447726	0.90[EUR][1000 genomes]
rs7448422	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7449316	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7714527	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7715648	0.90[EUR][1000 genomes]
rs7721179	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7727576	0.90[EUR][1000 genomes]
rs7728577	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7735544	0.88[EUR][1000 genomes]
rs9968768	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034703	chr5:70391173-70995695	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv882176	chr5:70738250-70860665	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv2754424	chr5:70749744-70885544	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7444322	CENPH	cis	parietal	SCAN
rs7444322	MCCC2	Cis_1M	lymphoblastoid	RTeQTL
rs7444322	FAM169A	cis	parietal	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:70752600-70789200	Weak transcription	Small Intestine	intestine
2	chr5:70752600-70794800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:70754200-70815800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:70754400-70795800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:70754400-70807200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr5:70754400-70809800	Strong transcription	Fetal Intestine Large	intestine
7	chr5:70754400-70824200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr5:70754600-70820400	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr5:70754600-70820400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr5:70759800-70833400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr5:70760200-70798400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:70761800-70786800	Weak transcription	Aorta	Aorta
13	chr5:70765400-70820400	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr5:70765400-70820400	Strong transcription	Primary B cells from peripheral blood	blood
15	chr5:70766000-70820400	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr5:70766200-70807000	Strong transcription	Fetal Muscle Trunk	muscle
17	chr5:70766800-70782000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr5:70767000-70781800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr5:70768000-70782000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr5:70770000-70783800	Strong transcription	Fetal Lung	lung
21	chr5:70770600-70783200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr5:70771000-70789400	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr5:70771000-70794600	Weak transcription	Colonic Mucosa	Colon
24	chr5:70771200-70792200	Weak transcription	Spleen	Spleen
25	chr5:70771400-70820400	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr5:70771800-70799200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:70773200-70783000	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr5:70773400-70783200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr5:70774000-70793600	Weak transcription	Lung	lung
30	chr5:70774400-70820400	Strong transcription	Fetal Thymus	thymus
31	chr5:70775600-70821000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr5:70776000-70806200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr5:70776400-70819200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr5:70776400-70820400	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr5:70776400-70820400	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr5:70776400-70820400	Strong transcription	Duodenum Mucosa	Duodenum
37	chr5:70776600-70820400	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr5:70776800-70789000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr5:70776800-70795400	Strong transcription	GM12878-XiMat	blood
40	chr5:70776800-70820400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr5:70776800-70820400	Strong transcription	Dnd41	blood
42	chr5:70777000-70783200	Weak transcription	Esophagus	oesophagus
43	chr5:70777000-70785400	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr5:70777200-70783400	Weak transcription	Pancreas	Pancrea
45	chr5:70777400-70783000	Weak transcription	Fetal Intestine Small	intestine
46	chr5:70777400-70783200	Weak transcription	Thymus	Thymus
47	chr5:70777400-70783400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr5:70777400-70791200	Strong transcription	Primary B cells from cord blood	blood
49	chr5:70777600-70783000	Weak transcription	Fetal Stomach	stomach
50	chr5:70777600-70783000	Strong transcription	K562	blood

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