Variant report

Variant	rs7785892
Chromosome Location	chr7:106934175-106934176
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10234355	0.94[CHB][hapmap]
rs12112877	0.92[ASN][1000 genomes]
rs12667527	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs12670688	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12672451	0.81[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12673675	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs13230144	0.99[ASN][1000 genomes]
rs17153981	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17154040	0.88[ASN][1000 genomes]
rs17154091	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs1858888	0.81[ASN][1000 genomes]
rs2107317	1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2237658	0.88[ASN][1000 genomes]
rs2237659	0.91[ASN][1000 genomes]
rs2237660	0.91[ASN][1000 genomes]
rs2237661	0.91[ASN][1000 genomes]
rs2237662	0.86[ASN][1000 genomes]
rs2237665	1.00[ASN][1000 genomes]
rs2237668	0.81[ASN][1000 genomes]
rs2283038	0.90[ASN][1000 genomes]
rs2301801	0.95[ASN][1000 genomes]
rs2395868	1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2395869	0.95[ASN][1000 genomes]
rs2712195	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs34021916	0.85[ASN][1000 genomes]
rs3801964	1.00[CHB][hapmap];0.92[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs3801966	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4727680	0.94[CHB][hapmap];0.86[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap]
rs4727681	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs4730235	0.84[ASN][1000 genomes]
rs4730237	0.81[ASN][1000 genomes]
rs4730245	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs58391518	0.83[ASN][1000 genomes]
rs62482493	0.92[ASN][1000 genomes]
rs62482495	0.81[ASN][1000 genomes]
rs62482499	0.88[ASN][1000 genomes]
rs62482502	0.87[ASN][1000 genomes]
rs62482503	0.87[ASN][1000 genomes]
rs62482507	0.84[ASN][1000 genomes]
rs62483627	0.87[ASN][1000 genomes]
rs62483629	0.92[ASN][1000 genomes]
rs62483633	0.96[ASN][1000 genomes]
rs62483634	0.97[ASN][1000 genomes]
rs62483639	0.86[AFR][1000 genomes]
rs62483640	0.93[ASN][1000 genomes]
rs62483641	0.97[ASN][1000 genomes]
rs6949634	0.88[ASN][1000 genomes]
rs7777950	0.88[ASN][1000 genomes]
rs7788271	0.87[ASN][1000 genomes]
rs7788330	0.87[ASN][1000 genomes]
rs7790080	0.83[ASN][1000 genomes]
rs7803151	1.00[ASN][1000 genomes]
rs9791733	0.81[ASN][1000 genomes]
rs982447	0.87[ASN][1000 genomes]
rs986994	0.94[CHB][hapmap];0.86[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3383027	chr7:106802625-107096474	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats 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	31 gene(s)	inside rSNPs	diseases
2	nsv888939	chr7:106849393-107045700	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
3	esv2756226	chr7:106850755-106944563	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv1016691	chr7:106880953-106960515	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv1015615	chr7:106888529-106962332	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv1024903	chr7:106897237-106965091	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv1034707	chr7:106897237-106966215	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	esv1825788	chr7:106897237-107136320	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv1024793	chr7:106900877-107170312	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
10	nsv1033064	chr7:106903099-106949640	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	esv1797664	chr7:106930295-106964433	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7785892	COG5	cis	parietal	SCAN
rs7785892	PRKAR2B	cis	cerebellum	SCAN

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:106851000-106946000	Weak transcription	Esophagus	oesophagus
2	chr7:106874000-106945600	Weak transcription	Pancreas	Pancrea
3	chr7:106886400-106971400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr7:106886800-106946000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:106887000-106935800	Weak transcription	Small Intestine	intestine
6	chr7:106888800-106946000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr7:106888800-106946200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr7:106888800-106999400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr7:106889000-106934400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr7:106890800-106945600	Weak transcription	Aorta	Aorta
11	chr7:106904800-106959800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr7:106909000-106968600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr7:106910200-106946400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr7:106911000-106964200	Weak transcription	Duodenum Mucosa	Duodenum
15	chr7:106911800-106946000	Weak transcription	Fetal Intestine Small	intestine
16	chr7:106912400-106934200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr7:106915200-106953400	Weak transcription	Left Ventricle	heart
18	chr7:106918000-106936000	Weak transcription	HSMMtube	muscle
19	chr7:106918000-106939000	Weak transcription	GM12878-XiMat	blood
20	chr7:106918600-106963800	Weak transcription	HSMM	muscle
21	chr7:106921200-106936400	Weak transcription	HUVEC	blood vessel
22	chr7:106921400-106946000	Weak transcription	Fetal Thymus	thymus
23	chr7:106922200-106934200	Weak transcription	Brain Angular Gyrus	brain
24	chr7:106923000-106965800	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr7:106923200-106935200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr7:106923800-106999400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr7:106924200-106937400	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr7:106925600-106959800	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr7:106926800-106943000	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr7:106927800-106937600	Weak transcription	Colon Smooth Muscle	Colon
31	chr7:106928000-106942800	Weak transcription	Fetal Heart	heart
32	chr7:106928000-106958800	Weak transcription	HepG2	liver
33	chr7:106928000-106972600	Weak transcription	Fetal Muscle Leg	muscle
34	chr7:106929600-106934200	Strong transcription	Primary B cells from peripheral blood	blood
35	chr7:106930400-106934200	Strong transcription	Fetal Intestine Large	intestine
36	chr7:106930400-106934400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr7:106930400-106935000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr7:106930800-106934200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr7:106930800-106941400	Weak transcription	Fetal Lung	lung
40	chr7:106931000-106934200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr7:106931000-106934400	Strong transcription	Primary T cells from cord blood	blood
42	chr7:106931000-106935200	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr7:106931200-106945000	Weak transcription	Primary B cells from cord blood	blood
44	chr7:106931400-106936600	Weak transcription	Psoas Muscle	Psoas
45	chr7:106931400-106962800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr7:106931600-106934200	Strong transcription	Dnd41	blood
47	chr7:106931600-106945000	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr7:106931800-106939600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr7:106932200-106945600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr7:106932200-106946400	Weak transcription	Brain Inferior Temporal Lobe	brain

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