Variant report

Variant	rs660718
Chromosome Location	chr11:104813373-104813374
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs483013	1.00[ASN][1000 genomes]
rs497116	1.00[ASN][1000 genomes]
rs5000899	1.00[ASN][1000 genomes]
rs506761	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs507894	1.00[ASN][1000 genomes]
rs536992	1.00[ASN][1000 genomes]
rs543889	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs555523	0.92[AMR][1000 genomes]
rs556589	1.00[ASN][1000 genomes]
rs557973	1.00[ASN][1000 genomes]
rs55923694	1.00[ASN][1000 genomes]
rs562183	1.00[ASN][1000 genomes]
rs571553	1.00[ASN][1000 genomes]
rs576568	1.00[ASN][1000 genomes]
rs600028	0.92[AMR][1000 genomes]
rs604583	1.00[ASN][1000 genomes]
rs616877	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs620902	1.00[AMR][1000 genomes]
rs633782	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs635846	1.00[ASN][1000 genomes]
rs648264	1.00[ASN][1000 genomes]
rs649739	0.92[AMR][1000 genomes]
rs674467	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs693001	1.00[ASN][1000 genomes]
rs693506	1.00[ASN][1000 genomes]
rs73629701	1.00[ASN][1000 genomes]
rs7928242	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046098	chr11:104207210-105003661	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv531430	chr11:104380924-105194452	Genic enhancers Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv832255	chr11:104674918-104846961	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv898355	chr11:104730322-104897843	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv1040784	chr11:104763797-104855878	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv468862	chr11:104774014-105243371	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv556218	chr11:104774014-105243371	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	esv3334824	chr11:104776753-104813836	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv898356	chr11:104779195-104838471	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
10	esv3385159	chr11:104786549-105051555	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
11	nsv1041081	chr11:104797775-104912458	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
12	nsv975395	chr11:104809055-104814705	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	inside rSNPs	diseases
13	nsv1044970	chr11:104809246-105225032	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
14	nsv541160	chr11:104809246-105225032	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104803400-104819000	Weak transcription	Psoas Muscle	Psoas
2	chr11:104805600-104813600	Weak transcription	Spleen	Spleen
3	chr11:104805600-104813600	Weak transcription	HUVEC	blood vessel
4	chr11:104805600-104814800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr11:104805600-104814800	Weak transcription	Fetal Thymus	thymus
6	chr11:104806200-104814400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr11:104806200-104814800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr11:104806400-104818200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr11:104806600-104813800	Weak transcription	Primary B cells from cord blood	blood
10	chr11:104806800-104814000	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr11:104806800-104814000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr11:104806800-104814800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr11:104807000-104813800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr11:104807000-104817800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr11:104807000-104818200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr11:104807200-104818000	Weak transcription	Left Ventricle	heart
17	chr11:104810800-104813800	Weak transcription	GM12878-XiMat	blood
18	chr11:104811400-104818800	Weak transcription	Small Intestine	intestine
19	chr11:104811600-104813800	Weak transcription	Fetal Intestine Large	intestine
20	chr11:104811600-104814800	Weak transcription	NHDF-Ad	bronchial
21	chr11:104811600-104815600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:104811800-104813400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr11:104811800-104813600	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr11:104811800-104815400	Weak transcription	NHEK	skin
25	chr11:104812000-104813600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr11:104812000-104813600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr11:104812000-104813600	Weak transcription	Lung	lung
28	chr11:104812000-104813600	Weak transcription	Ovary	ovary
29	chr11:104812000-104813600	Weak transcription	Pancreas	Pancrea
30	chr11:104812000-104814200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr11:104812000-104814200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr11:104812000-104814400	Weak transcription	Fetal Muscle Leg	muscle
33	chr11:104812000-104814800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr11:104812000-104825200	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr11:104812200-104813800	Weak transcription	NHLF	lung
36	chr11:104812200-104814600	Weak transcription	Osteobl	bone
37	chr11:104812200-104814800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr11:104812200-104816600	Weak transcription	Fetal Intestine Small	intestine
39	chr11:104812200-104819000	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr11:104812400-104814000	Weak transcription	Esophagus	oesophagus
41	chr11:104812400-104819000	Weak transcription	Aorta	Aorta
42	chr11:104812600-104817800	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr11:104812600-104819200	Weak transcription	Gastric	stomach
44	chr11:104812600-104825600	Strong transcription	Placenta	Placenta
45	chr11:104812600-104826800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr11:104812800-104814400	Weak transcription	HMEC	breast
47	chr11:104812800-104814600	Weak transcription	HSMM	muscle
48	chr11:104812800-104816000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr11:104812800-104817400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr11:104812800-104821600	Weak transcription	Colonic Mucosa	Colon

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