Variant report

Variant	rs73519686
Chromosome Location	chr11:85517473-85517474
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:85497196..85498847-chr11:85516352..85520145,3	MCF-7	breast:
2	chr11:85434078..85436234-chr11:85516970..85518571,2	MCF-7	breast:
3	chr11:85494490..85496333-chr11:85515737..85519342,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137501	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10501596	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11822544	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11826413	1.00[EUR][1000 genomes]
rs11827081	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12099248	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12099426	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1445515	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17148344	1.00[EUR][1000 genomes]
rs17148395	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17148401	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17148417	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17148419	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17148431	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17148438	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17148453	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17148464	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17148473	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17148488	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17148584	1.00[EUR][1000 genomes]
rs28450318	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34050255	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35177514	1.00[EUR][1000 genomes]
rs3851177	1.00[EUR][1000 genomes]
rs4088047	0.89[AMR][1000 genomes]
rs4088048	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55739500	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56386215	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57373902	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58519079	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60068371	1.00[EUR][1000 genomes]
rs60389124	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60958929	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7111778	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7115189	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7119154	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7124851	1.00[EUR][1000 genomes]
rs7129079	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73502585	1.00[EUR][1000 genomes]
rs73519658	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7925247	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7928873	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7938187	1.00[EUR][1000 genomes]
rs7946866	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7950767	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051155	chr11:85006564-85721261	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS 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	64 gene(s)	inside rSNPs	diseases
2	nsv541110	chr11:85006564-85721261	Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	esv2758279	chr11:85180480-85603988	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv2759845	chr11:85180480-85603988	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv832222	chr11:85405712-85603981	Enhancers Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv1047147	chr11:85459235-85594800	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv541114	chr11:85459235-85594800	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	esv2762927	chr11:85468051-85559618	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv1052737	chr11:85477084-85554914	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv541115	chr11:85477084-85554914	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv1049630	chr11:85486866-85535123	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv1035489	chr11:85502953-85778229	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85491800-85517800	Weak transcription	NHLF	lung
2	chr11:85509800-85520000	Weak transcription	HSMM	muscle
3	chr11:85510000-85518000	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr11:85510800-85520200	Weak transcription	Fetal Muscle Leg	muscle
5	chr11:85511800-85517600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr11:85512000-85518000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr11:85512000-85520000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr11:85512200-85517800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr11:85512200-85518000	Weak transcription	Small Intestine	intestine
10	chr11:85512400-85517800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr11:85512800-85518000	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr11:85513800-85518000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr11:85514000-85520000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr11:85514000-85520200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr11:85514600-85520200	Weak transcription	Gastric	stomach
16	chr11:85515000-85520000	Weak transcription	Primary T cells from cord blood	blood
17	chr11:85515000-85520000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr11:85515000-85520400	Weak transcription	Fetal Brain Male	brain
19	chr11:85515200-85517800	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr11:85515600-85517800	Weak transcription	Stomach Mucosa	stomach
21	chr11:85516000-85521000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr11:85516200-85518800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr11:85516200-85519000	Enhancers	HMEC	breast
24	chr11:85516400-85517600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr11:85516400-85518400	Enhancers	Brain Substantia Nigra	brain
26	chr11:85516400-85518400	Enhancers	NHDF-Ad	bronchial
27	chr11:85516400-85518600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr11:85516400-85518800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr11:85516600-85518400	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr11:85516600-85519000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr11:85516600-85520800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr11:85516800-85517800	Weak transcription	Brain Hippocampus Middle	brain
33	chr11:85516800-85518000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr11:85516800-85518400	Enhancers	Brain Angular Gyrus	brain
35	chr11:85516800-85519000	Enhancers	NHEK	skin
36	chr11:85516800-85520200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr11:85517000-85520000	Weak transcription	Fetal Stomach	stomach
38	chr11:85517000-85520200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr11:85517200-85518000	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr11:85517200-85518200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr11:85517200-85518400	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr11:85517200-85518800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr11:85517400-85518200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr11:85517400-85518400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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