Variant report

Variant	rs7705720
Chromosome Location	chr5:95280033-95280034
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:95243441..95245938-chr5:95279829..95282671,2	K562	blood:
2	chr5:95269858..95271491-chr5:95279043..95281999,2	K562	blood:
3	chr5:95244216..95245938-chr5:95279829..95282614,2	K562	blood:
4	chr5:95271606..95274908-chr5:95279196..95282633,3	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10052503	0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10073752	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10515232	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11738945	0.81[EUR][1000 genomes]
rs11742959	0.81[EUR][1000 genomes]
rs12055262	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17085333	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1862313	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2112566	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2161318	0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2546199	0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3734131	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3756703	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3777162	0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3777163	0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3777164	0.82[EUR][1000 genomes]
rs3777165	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3777166	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3777167	0.83[EUR][1000 genomes]
rs3777168	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3777171	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3777173	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3777175	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3777178	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3777179	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3777182	0.85[ASN][1000 genomes]
rs3777183	0.85[ASN][1000 genomes]
rs3822750	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55841351	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56002885	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57243277	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57595413	0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58921760	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59307279	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6556894	0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6556898	0.84[ASN][1000 genomes]
rs6861531	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6877821	0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6881355	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6881872	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6883880	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6894651	0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6897997	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6898371	0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6898399	0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72656689	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7700895	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7705279	0.95[EUR][1000 genomes]
rs7710422	0.88[ASN][1000 genomes]
rs7724599	0.95[EUR][1000 genomes]
rs918629	0.82[EUR][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	nsv1015180	chr5:95134357-95286446	Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1019566	chr5:95180352-95300677	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	esv2758003	chr5:95231706-95540433	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
4	esv2759355	chr5:95231706-95540433	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7705720	ELL2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95238200-95282000	Weak transcription	HUVEC	blood vessel
2	chr5:95260000-95280600	Weak transcription	Esophagus	oesophagus
3	chr5:95260800-95295200	Weak transcription	Primary T cells from cord blood	blood
4	chr5:95262200-95295400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr5:95264800-95285600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr5:95264800-95293800	Weak transcription	Primary B cells from peripheral blood	blood
7	chr5:95265000-95285600	Weak transcription	Duodenum Mucosa	Duodenum
8	chr5:95265400-95281800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr5:95267200-95280200	Weak transcription	Aorta	Aorta
10	chr5:95270000-95283200	Genic enhancers	Muscle Satellite Cultured Cells	--
11	chr5:95270400-95284800	Weak transcription	Fetal Intestine Small	intestine
12	chr5:95270400-95285400	Weak transcription	Right Ventricle	heart
13	chr5:95272400-95283800	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr5:95272600-95283400	Enhancers	Brain Substantia Nigra	brain
15	chr5:95272800-95291200	Weak transcription	NH-A	brain
16	chr5:95273000-95287600	Weak transcription	Primary B cells from cord blood	blood
17	chr5:95273000-95291200	Weak transcription	HSMMtube	muscle
18	chr5:95273600-95280200	Weak transcription	Gastric	stomach
19	chr5:95273800-95285600	Weak transcription	Stomach Mucosa	stomach
20	chr5:95274600-95280200	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr5:95274800-95292200	Weak transcription	Placenta	Placenta
22	chr5:95275400-95291400	Weak transcription	NHDF-Ad	bronchial
23	chr5:95276800-95281800	Weak transcription	Left Ventricle	heart
24	chr5:95276800-95283000	Enhancers	Brain Anterior Caudate	brain
25	chr5:95277000-95282000	Strong transcription	HSMM	muscle
26	chr5:95277000-95282200	Weak transcription	Colon Smooth Muscle	Colon
27	chr5:95277000-95290800	Weak transcription	Stomach Smooth Muscle	stomach
28	chr5:95277200-95280600	Weak transcription	Pancreas	Pancrea
29	chr5:95277200-95280800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr5:95277200-95283600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr5:95277200-95284200	Weak transcription	Fetal Heart	heart
32	chr5:95277200-95291600	Weak transcription	Ovary	ovary
33	chr5:95277400-95281000	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr5:95277400-95281000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr5:95277400-95282000	Weak transcription	Right Atrium	heart
36	chr5:95277400-95284200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr5:95277400-95286400	Enhancers	Brain Cingulate Gyrus	brain
38	chr5:95277600-95280200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr5:95277600-95280200	Genic enhancers	GM12878-XiMat	blood
40	chr5:95277600-95280400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr5:95277600-95280600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr5:95277600-95280600	Weak transcription	Psoas Muscle	Psoas
43	chr5:95277600-95280600	Weak transcription	NHLF	lung
44	chr5:95277600-95282400	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr5:95277600-95283200	Weak transcription	Small Intestine	intestine
46	chr5:95277600-95285600	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr5:95277600-95287400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr5:95277800-95280200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr5:95277800-95280200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr5:95277800-95280200	Weak transcription	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links