Variant report

Variant	rs2520270
Chromosome Location	chr7:107194911-107194912
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1015410	0.85[EUR][1000 genomes]
rs1018869	0.91[EUR][1000 genomes]
rs1024401	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10244871	0.94[EUR][1000 genomes]
rs10245210	0.83[EUR][1000 genomes]
rs10267978	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10276321	0.91[EUR][1000 genomes]
rs10953538	0.83[EUR][1000 genomes]
rs11761775	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12532304	0.83[EUR][1000 genomes]
rs12534598	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1468335	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1858889	0.85[EUR][1000 genomes]
rs2250410	0.93[EUR][1000 genomes]
rs2253856	0.96[EUR][1000 genomes]
rs2283042	0.95[EUR][1000 genomes]
rs2520257	0.94[EUR][1000 genomes]
rs2520258	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2520259	0.97[EUR][1000 genomes]
rs2520262	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2520266	0.98[EUR][1000 genomes]
rs2520272	0.98[EUR][1000 genomes]
rs2520276	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2520278	0.85[EUR][1000 genomes]
rs2520279	0.85[EUR][1000 genomes]
rs2712186	0.98[EUR][1000 genomes]
rs2712188	0.98[EUR][1000 genomes]
rs2712192	0.85[EUR][1000 genomes]
rs2712194	0.85[EUR][1000 genomes]
rs2712203	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2712213	0.98[EUR][1000 genomes]
rs2712217	0.93[EUR][1000 genomes]
rs2712223	0.95[EUR][1000 genomes]
rs2712225	0.94[EUR][1000 genomes]
rs28410326	0.84[EUR][1000 genomes]
rs3779496	0.83[EUR][1000 genomes]
rs4610672	0.86[EUR][1000 genomes]
rs4727682	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4730244	0.81[ASN][1000 genomes]
rs60490203	0.91[EUR][1000 genomes]
rs62483724	0.98[EUR][1000 genomes]
rs6466172	0.94[EUR][1000 genomes]
rs6466174	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6945488	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6962433	0.91[EUR][1000 genomes]
rs6968804	0.94[EUR][1000 genomes]
rs6979121	0.83[EUR][1000 genomes]
rs711442	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7786186	0.85[EUR][1000 genomes]
rs7787113	0.83[EUR][1000 genomes]
rs7791955	0.83[EUR][1000 genomes]
rs7805630	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033979	chr7:107003734-107877761	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv1028571	chr7:107114479-107299723	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv539053	chr7:107114479-107299723	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS 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	31 gene(s)	inside rSNPs	diseases
4	nsv482365	chr7:107122401-107271861	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv608074	chr7:107179131-107260856	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107156400-107195000	Weak transcription	Colon Smooth Muscle	Colon
2	chr7:107162200-107203400	Weak transcription	Fetal Kidney	kidney
3	chr7:107170200-107203600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:107172800-107200200	Weak transcription	Psoas Muscle	Psoas
5	chr7:107179400-107203200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr7:107183200-107198800	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr7:107184600-107195800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:107185000-107200200	Weak transcription	Pancreas	Pancrea
9	chr7:107185000-107203600	Weak transcription	Gastric	stomach
10	chr7:107185200-107199800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr7:107185200-107203600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:107185200-107203800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr7:107186000-107195400	Weak transcription	Brain Angular Gyrus	brain
14	chr7:107186000-107196400	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr7:107186000-107196400	Weak transcription	Right Ventricle	heart
16	chr7:107186000-107200000	Weak transcription	Stomach Mucosa	stomach
17	chr7:107186000-107200200	Weak transcription	NHLF	lung
18	chr7:107186000-107203000	Weak transcription	Brain Germinal Matrix	brain
19	chr7:107186000-107203600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr7:107186200-107196200	Weak transcription	Fetal Stomach	stomach
21	chr7:107186200-107196600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr7:107186200-107197200	Weak transcription	Lung	lung
23	chr7:107186200-107199800	Weak transcription	Small Intestine	intestine
24	chr7:107186200-107200000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr7:107186200-107203600	Weak transcription	Esophagus	oesophagus
26	chr7:107186200-107203800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr7:107186400-107200000	Weak transcription	Fetal Heart	heart
28	chr7:107186600-107196600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr7:107186600-107198800	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr7:107186800-107196600	Weak transcription	HMEC	breast
31	chr7:107186800-107196800	Weak transcription	HepG2	liver
32	chr7:107186800-107197600	Weak transcription	Fetal Lung	lung
33	chr7:107186800-107203000	Weak transcription	A549	lung
34	chr7:107186800-107203600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr7:107187400-107203000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr7:107188000-107198400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr7:107188000-107202400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr7:107188000-107203800	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr7:107188600-107199800	Weak transcription	Hela-S3	cervix
40	chr7:107190000-107203400	Weak transcription	Fetal Brain Male	brain
41	chr7:107192000-107197800	Strong transcription	Primary B cells from cord blood	blood
42	chr7:107192000-107198000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr7:107192000-107198200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr7:107192000-107198600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr7:107192200-107196800	Weak transcription	Fetal Intestine Small	intestine
46	chr7:107192200-107198400	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr7:107192200-107198600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr7:107192200-107198800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr7:107192200-107198800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr7:107192400-107196200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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