Variant report

Variant	rs7938196
Chromosome Location	chr11:3937008-3937009
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10835301	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11030224	0.90[EUR][1000 genomes]
rs11030264	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11030394	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17193797	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2923944	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2923945	0.81[EUR][1000 genomes]
rs2923956	0.81[EUR][1000 genomes]
rs2958713	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2958714	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2959056	0.81[EUR][1000 genomes]
rs34662040	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4910863	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4910864	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7945639	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

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	nsv1049560	chr11:3678259-3980746	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv540907	chr11:3678259-3980746	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1052744	chr11:3739162-4017601	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer 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	29 gene(s)	inside rSNPs	diseases
4	nsv1047025	chr11:3750969-4017601	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv1046065	chr11:3808818-4049150	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv540909	chr11:3808818-4049150	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv869701	chr11:3879297-3973762	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	nsv1051904	chr11:3903226-3939186	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv1050077	chr11:3903226-3940726	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	nsv1043039	chr11:3903226-3955159	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
11	nsv522040	chr11:3933564-3938385	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3916600-3943800	Weak transcription	Fetal Stomach	stomach
2	chr11:3916600-3948800	Weak transcription	Aorta	Aorta
3	chr11:3924000-3950600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr11:3924800-3938200	Weak transcription	Pancreas	Pancrea
5	chr11:3925800-3941000	Weak transcription	Right Ventricle	heart
6	chr11:3926600-3938400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr11:3926600-3941000	Weak transcription	Small Intestine	intestine
8	chr11:3927200-3942600	Weak transcription	Spleen	Spleen
9	chr11:3927400-3941200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr11:3927600-3943600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr11:3928400-3940800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr11:3928800-3938200	Weak transcription	A549	lung
13	chr11:3929000-3938200	Weak transcription	Esophagus	oesophagus
14	chr11:3929200-3937200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr11:3929200-3938200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr11:3929200-3940800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr11:3929400-3937200	Weak transcription	Dnd41	blood
18	chr11:3929400-3937400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr11:3929400-3938200	Weak transcription	GM12878-XiMat	blood
20	chr11:3929400-3950600	Weak transcription	Ovary	ovary
21	chr11:3930200-3938000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:3930400-3937400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr11:3930600-3938200	Weak transcription	Psoas Muscle	Psoas
24	chr11:3930600-3940800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr11:3931400-3941000	Weak transcription	Adipose Nuclei	Adipose
26	chr11:3931600-3942600	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr11:3932200-3942800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr11:3932400-3944000	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr11:3932800-3941000	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr11:3933200-3941000	Weak transcription	K562	blood
31	chr11:3934000-3938800	Enhancers	Liver	Liver
32	chr11:3934600-3937600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr11:3934600-3940200	Enhancers	HepG2	liver
34	chr11:3934800-3938200	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr11:3934800-3951000	Weak transcription	Gastric	stomach
36	chr11:3935400-3938600	Enhancers	Primary B cells from cord blood	blood
37	chr11:3935400-3942400	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr11:3935400-3943000	Weak transcription	Fetal Lung	lung
39	chr11:3935400-3944000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr11:3935600-3938600	Enhancers	Stomach Mucosa	stomach
41	chr11:3935600-3942600	Enhancers	Primary B cells from peripheral blood	blood
42	chr11:3935600-3943200	Enhancers	Primary T cells fromperipheralblood	blood
43	chr11:3935600-3943400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr11:3935800-3938800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr11:3936000-3937200	Enhancers	HMEC	breast
46	chr11:3936000-3938000	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr11:3936000-3940200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr11:3936000-3942000	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr11:3936000-3943200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr11:3936000-3943600	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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