Variant report

Variant	rs73492139
Chromosome Location	chr11:64378054-64378055
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	chr11:64375874..64378120-chr11:64381726..64383256,2	K562	blood:
2	chr11:64377074..64379165-chr11:64387465..64390419,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110076	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10466694	1.00[EUR][1000 genomes]
rs10732887	1.00[EUR][1000 genomes]
rs11231806	1.00[EUR][1000 genomes]
rs11231811	1.00[EUR][1000 genomes]
rs11231812	1.00[EUR][1000 genomes]
rs11231865	1.00[EUR][1000 genomes]
rs11231866	1.00[EUR][1000 genomes]
rs11821081	1.00[EUR][1000 genomes]
rs1212539	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1212851	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12273948	1.00[EUR][1000 genomes]
rs12281931	1.00[EUR][1000 genomes]
rs12293573	1.00[EUR][1000 genomes]
rs17146100	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17146110	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17146119	0.90[AFR][1000 genomes]
rs1787671	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2022049	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2518908	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2666561	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2666562	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2904961	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2959651	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3016758	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3016759	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41323046	1.00[EUR][1000 genomes]
rs475704	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4930167	1.00[EUR][1000 genomes]
rs512926	1.00[EUR][1000 genomes]
rs516041	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs518698	1.00[EUR][1000 genomes]
rs520277	1.00[EUR][1000 genomes]
rs534052	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs534073	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs535606	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs541305	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs545167	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs545819	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs546323	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs550930	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs553618	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs559095	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs559977	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56186064	1.00[EUR][1000 genomes]
rs565688	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs573545	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57371796	1.00[EUR][1000 genomes]
rs579175	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58571986	1.00[EUR][1000 genomes]
rs6591863	1.00[EUR][1000 genomes]
rs7110778	1.00[EUR][1000 genomes]
rs7127435	1.00[EUR][1000 genomes]
rs73492134	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73492140	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73492144	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73494206	1.00[EUR][1000 genomes]
rs7948607	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7948832	1.00[EUR][1000 genomes]
rs9326433	1.00[EUR][1000 genomes]
rs9326434	1.00[EUR][1000 genomes]
rs9666331	1.00[EUR][1000 genomes]
rs9666856	1.00[EUR][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	nsv897692	chr11:64305452-64386526	Bivalent/Poised TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
2	nsv897693	chr11:64305452-64440920	Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	esv2422214	chr11:64312491-64483418	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv832188	chr11:64315368-64485209	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv468596	chr11:64334114-64527080	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv555195	chr11:64334114-64527080	Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv897694	chr11:64334114-64584959	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
8	nsv818842	chr11:64345448-64546391	Bivalent Enhancer Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
9	nsv528506	chr11:64345448-64701030	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
10	nsv555196	chr11:64357072-64559898	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
11	nsv897695	chr11:64357072-64701030	Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
12	nsv897696	chr11:64365796-64412877	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv1051350	chr11:64372906-64533632	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
14	nsv555198	chr11:64373899-64573589	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64373400-64379000	Weak transcription	Brain Hippocampus Middle	brain
2	chr11:64373600-64402200	Weak transcription	HSMMtube	muscle
3	chr11:64375600-64379000	Weak transcription	Lung	lung
4	chr11:64375800-64379800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr11:64376000-64379200	Enhancers	Primary T cells from cord blood	blood
6	chr11:64376000-64383200	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr11:64376200-64383000	Enhancers	Fetal Thymus	thymus
8	chr11:64376400-64379000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr11:64376400-64379000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr11:64376400-64382600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr11:64376400-64383800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr11:64376600-64378400	Weak transcription	Brain Angular Gyrus	brain
13	chr11:64376600-64379000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr11:64376600-64380200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr11:64376600-64380200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr11:64376600-64380400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:64376600-64380600	Weak transcription	Aorta	Aorta
18	chr11:64376600-64380600	Weak transcription	Fetal Lung	lung
19	chr11:64376600-64382200	Weak transcription	Brain Substantia Nigra	brain
20	chr11:64376600-64382600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr11:64376600-64382600	Weak transcription	Colon Smooth Muscle	Colon
22	chr11:64376600-64382600	Weak transcription	Osteobl	bone
23	chr11:64376600-64383200	Weak transcription	Fetal Kidney	kidney
24	chr11:64376600-64386600	Weak transcription	Right Atrium	heart
25	chr11:64376600-64387000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr11:64376600-64387200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:64376600-64387200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr11:64376800-64380000	Enhancers	Thymus	Thymus
29	chr11:64376800-64381800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:64376800-64382400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr11:64376800-64382800	Weak transcription	Fetal Brain Male	brain
32	chr11:64376800-64387200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr11:64377000-64382800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr11:64377200-64378600	Weak transcription	Fetal Muscle Leg	muscle
35	chr11:64377200-64378800	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr11:64377200-64379000	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr11:64377200-64380000	Enhancers	Spleen	Spleen
38	chr11:64377400-64378600	Weak transcription	Primary B cells from cord blood	blood
39	chr11:64377400-64380200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr11:64377400-64383400	Strong transcription	Fetal Intestine Small	intestine
41	chr11:64377400-64384000	Weak transcription	Ovary	ovary
42	chr11:64377600-64385800	Strong transcription	Fetal Stomach	stomach
43	chr11:64377600-64387000	Strong transcription	Fetal Brain Female	brain
44	chr11:64377800-64382800	Weak transcription	Rectal Smooth Muscle	rectum
45	chr11:64377800-64386200	Strong transcription	Brain Germinal Matrix	brain
46	chr11:64378000-64380000	Enhancers	Primary hematopoietic stem cells	blood
47	chr11:64378000-64386000	Weak transcription	Fetal Intestine Large	intestine

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