Variant report

Variant	rs1193336
Chromosome Location	chr7:127617122-127617123
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:127614080..127617711-chr7:127619804..127624160,5	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1024910	0.84[ASN][1000 genomes]
rs1193333	0.83[ASN][1000 genomes]
rs1193335	0.84[ASN][1000 genomes]
rs124756	0.83[JPT][hapmap]
rs12668077	0.87[JPT][hapmap]
rs1345509	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1419968	1.00[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];0.80[YRI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17732677	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs178734	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2241291	0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs225241	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs322813	0.83[JPT][hapmap]
rs322819	0.83[JPT][hapmap]
rs322820	0.83[JPT][hapmap]
rs322821	0.83[JPT][hapmap]
rs322823	0.83[JPT][hapmap]
rs322826	0.89[GIH][hapmap];0.83[JPT][hapmap]
rs322827	0.85[CHB][hapmap];0.94[CHD][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs322828	0.85[CHB][hapmap];0.94[CHD][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs322831	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs322834	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs322835	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs322836	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs322838	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs322840	0.83[JPT][hapmap]
rs35774036	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3757755	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3757760	0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs3757763	0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs3779523	0.83[JPT][hapmap]
rs3779526	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3779527	0.83[ASN][1000 genomes]
rs3808056	0.85[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs3808061	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3808077	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3808082	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3808088	0.87[JPT][hapmap]
rs3823995	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];0.98[TSI][hapmap];0.86[YRI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4731386	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6467155	0.84[ASN][1000 genomes]
rs6467156	0.84[ASN][1000 genomes]
rs6944446	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs6973092	0.96[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.98[TSI][hapmap];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7789322	0.84[ASN][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	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv526535	chr7:127445594-127623840	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1024743	chr7:127498695-127670004	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1193336	TMEM209	cis	cerebellum	SCAN
rs1193336	ARF5	cis	parietal	SCAN

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127570800-127618200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr7:127571400-127617800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr7:127571600-127618000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr7:127583200-127630600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr7:127584600-127617800	Weak transcription	Hela-S3	cervix
6	chr7:127587400-127618000	Weak transcription	NHLF	lung
7	chr7:127587400-127635200	Weak transcription	NHDF-Ad	bronchial
8	chr7:127594000-127623400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr7:127594400-127618000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr7:127594600-127618000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr7:127600000-127617800	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr7:127600400-127617800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr7:127600400-127617800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr7:127600400-127618200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr7:127600600-127617800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr7:127600600-127630600	Weak transcription	Adipose Nuclei	Adipose
17	chr7:127601800-127617400	Weak transcription	HMEC	breast
18	chr7:127603000-127627000	Weak transcription	Aorta	Aorta
19	chr7:127603200-127619200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:127603400-127619000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr7:127606400-127618000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr7:127607400-127624000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr7:127607800-127626800	Weak transcription	Ovary	ovary
24	chr7:127609200-127618200	Weak transcription	Osteobl	bone
25	chr7:127609200-127618800	Weak transcription	Fetal Thymus	thymus
26	chr7:127609200-127630800	Weak transcription	NH-A	brain
27	chr7:127609400-127623400	Weak transcription	Pancreas	Pancrea
28	chr7:127609400-127635200	Weak transcription	Fetal Kidney	kidney
29	chr7:127612800-127617800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr7:127612800-127618200	Strong transcription	K562	blood
31	chr7:127613000-127617200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr7:127613000-127617800	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr7:127613400-127617600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr7:127613600-127617200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:127613600-127617400	Enhancers	Fetal Brain Male	brain
36	chr7:127613600-127619800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr7:127613800-127623400	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr7:127614000-127631000	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr7:127614200-127617800	Strong transcription	Primary B cells from cord blood	blood
40	chr7:127614400-127618000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr7:127614400-127630600	Weak transcription	Stomach Smooth Muscle	stomach
42	chr7:127614800-127617200	Strong transcription	Fetal Stomach	stomach
43	chr7:127614800-127617800	Weak transcription	HSMM	muscle
44	chr7:127615000-127619000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr7:127615200-127617200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr7:127615400-127619000	Strong transcription	Liver	Liver
47	chr7:127615600-127617200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr7:127615600-127617200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr7:127615600-127617200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr7:127615600-127617200	Enhancers	Brain Cingulate Gyrus	brain

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