Variant report

Variant	rs7794437
Chromosome Location	chr7:106892227-106892228
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:106890607..106892740-chr7:106903344..106904868,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10249326	0.80[EUR][1000 genomes]
rs10260250	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.98[TSI][hapmap]
rs10264687	0.97[EUR][1000 genomes]
rs1034734	0.87[AFR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12333638	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12532293	0.98[EUR][1000 genomes]
rs12705403	0.85[MKK][hapmap]
rs2107762	0.85[EUR][1000 genomes]
rs2107763	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2158347	0.84[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2189500	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2214679	0.83[EUR][1000 genomes]
rs2237663	0.93[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2237667	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2269970	0.81[EUR][1000 genomes]
rs2302453	0.85[MKK][hapmap]
rs2395836	0.82[ASW][hapmap];0.85[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap]
rs2395839	0.92[CEU][hapmap]
rs257376	0.89[CEU][hapmap];0.84[TSI][hapmap]
rs257384	0.82[ASW][hapmap];0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap]
rs28718577	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3735613	0.85[MKK][hapmap]
rs3801969	1.00[ASW][hapmap];0.82[MKK][hapmap]
rs4730221	0.92[CEU][hapmap];0.86[TSI][hapmap]
rs4730244	0.84[CHB][hapmap];0.89[JPT][hapmap]
rs57815418	0.86[EUR][1000 genomes]
rs62483628	0.87[EUR][1000 genomes]
rs6466163	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6466164	0.86[EUR][1000 genomes]
rs6466165	0.81[EUR][1000 genomes]
rs6954422	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6966616	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6969719	0.81[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap];0.81[AFR][1000 genomes]
rs6971864	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7357192	0.87[EUR][1000 genomes]
rs7780542	0.86[EUR][1000 genomes]
rs7783805	0.87[EUR][1000 genomes]
rs7787113	0.92[CEU][hapmap]
rs7789927	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7791955	0.89[CEU][hapmap]
rs7794142	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7794896	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7802375	0.83[EUR][1000 genomes]
rs7804398	0.81[EUR][1000 genomes]
rs7809330	0.85[MKK][hapmap]

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	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7794437	COG5	cis	cerebellum	SCAN
rs7794437	PSMC2	cis	cerebellum	SCAN

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:106846000-106925800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr7:106850800-106895200	Weak transcription	Colon Smooth Muscle	Colon
3	chr7:106851000-106897600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr7:106851000-106946000	Weak transcription	Esophagus	oesophagus
5	chr7:106851200-106892400	Weak transcription	Gastric	stomach
6	chr7:106851200-106892600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr7:106853400-106925600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr7:106865600-106892400	Weak transcription	HepG2	liver
9	chr7:106866600-106909600	Weak transcription	Placenta	Placenta
10	chr7:106874000-106917800	Weak transcription	Osteobl	bone
11	chr7:106874000-106922600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr7:106874000-106929200	Weak transcription	NH-A	brain
13	chr7:106874000-106945600	Weak transcription	Pancreas	Pancrea
14	chr7:106875400-106908000	Weak transcription	HMEC	breast
15	chr7:106875600-106898400	Weak transcription	HUVEC	blood vessel
16	chr7:106878800-106895000	Weak transcription	K562	blood
17	chr7:106881200-106895600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr7:106883000-106918800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr7:106883400-106910200	Weak transcription	Lung	lung
20	chr7:106883400-106911400	Weak transcription	Right Ventricle	heart
21	chr7:106883600-106894200	Weak transcription	Fetal Heart	heart
22	chr7:106884800-106892600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr7:106885000-106897800	Weak transcription	Fetal Thymus	thymus
24	chr7:106885400-106897000	Weak transcription	NHEK	skin
25	chr7:106886400-106971400	Weak transcription	Fetal Muscle Trunk	muscle
26	chr7:106886800-106946000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr7:106887000-106935800	Weak transcription	Small Intestine	intestine
28	chr7:106887400-106898200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr7:106887600-106910200	Weak transcription	Adipose Nuclei	Adipose
30	chr7:106887600-106910400	Weak transcription	Psoas Muscle	Psoas
31	chr7:106887800-106903000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr7:106888400-106900600	Weak transcription	Stomach Smooth Muscle	stomach
33	chr7:106888600-106894000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr7:106888600-106894000	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr7:106888600-106899000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:106888600-106910000	Weak transcription	Duodenum Mucosa	Duodenum
37	chr7:106888600-106926600	Weak transcription	Ovary	ovary
38	chr7:106888600-106930800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr7:106888600-106931600	Weak transcription	Dnd41	blood
40	chr7:106888800-106894000	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr7:106888800-106897600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr7:106888800-106910200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr7:106888800-106910200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr7:106888800-106910200	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr7:106888800-106911400	Weak transcription	Fetal Intestine Small	intestine
46	chr7:106888800-106913200	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr7:106888800-106917400	Weak transcription	HSMM	muscle
48	chr7:106888800-106930800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr7:106888800-106932000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr7:106888800-106933400	Weak transcription	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links