Variant report

Variant	rs72949616
Chromosome Location	chr11:77464370-77464371
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	chr11:77458902..77461014-chr11:77463719..77466045,2	MCF-7	breast:
2	chr11:77455765..77458088-chr11:77462685..77464905,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10899399	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10899404	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11237263	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11237280	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11237318	0.88[EUR][1000 genomes]
rs11600998	0.95[ASN][1000 genomes]
rs11603438	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11604207	0.93[ASN][1000 genomes]
rs11606549	0.86[EUR][1000 genomes]
rs12285765	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12286317	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17752006	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1783544	0.91[EUR][1000 genomes]
rs2154972	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs24356	0.94[EUR][1000 genomes]
rs2508189	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34130561	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4322421	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4344516	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs484363	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4945220	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs537811	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56218634	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs588217	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs598071	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs614495	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs621456	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs623173	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs623907	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs635195	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs636971	0.93[EUR][1000 genomes]
rs643388	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs648601	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs648896	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs650171	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs663674	0.87[EUR][1000 genomes]
rs667225	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs668701	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs670090	0.89[EUR][1000 genomes]
rs684813	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs687037	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs694845	0.93[EUR][1000 genomes]
rs695046	0.89[EUR][1000 genomes]
rs7122968	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7123080	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72945592	0.81[EUR][1000 genomes]
rs72945598	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72947625	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72947668	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72949618	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7950873	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7951033	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs947841	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049603	chr11:76900813-77520411	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv541090	chr11:76900813-77520411	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1050891	chr11:77416645-77788002	Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1037292	chr11:77431583-77745934	Weak transcription Flanking Active TSS Enhancers Genic enhancers 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 target site	26 gene(s)	inside rSNPs	diseases
5	nsv541092	chr11:77431583-77745934	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS 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 target site	26 gene(s)	inside rSNPs	diseases
6	nsv949316	chr11:77454076-77769885	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv976491	chr11:77459085-77487555	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77409600-77478200	Weak transcription	Brain Angular Gyrus	brain
2	chr11:77410400-77477600	Weak transcription	Brain Substantia Nigra	brain
3	chr11:77431600-77482400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr11:77436200-77473400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr11:77436200-77477000	Weak transcription	Colonic Mucosa	Colon
6	chr11:77436600-77473200	Weak transcription	NHDF-Ad	bronchial
7	chr11:77442400-77472600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr11:77442800-77474600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr11:77442800-77500200	Weak transcription	Pancreas	Pancrea
10	chr11:77443000-77465800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr11:77443200-77473600	Weak transcription	Fetal Brain Female	brain
12	chr11:77443200-77500200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr11:77443400-77464400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr11:77443800-77465800	Weak transcription	Brain Germinal Matrix	brain
15	chr11:77445800-77476800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:77446000-77465800	Weak transcription	Fetal Kidney	kidney
17	chr11:77446200-77464800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr11:77446200-77465800	Weak transcription	Stomach Smooth Muscle	stomach
19	chr11:77446200-77467200	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr11:77446200-77482400	Weak transcription	Spleen	Spleen
21	chr11:77446400-77474800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr11:77447800-77465800	Weak transcription	Adipose Nuclei	Adipose
23	chr11:77448800-77464600	Weak transcription	Thymus	Thymus
24	chr11:77448800-77473200	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr11:77449000-77464600	Weak transcription	Fetal Muscle Leg	muscle
26	chr11:77449800-77474600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:77450400-77465800	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr11:77450600-77474600	Weak transcription	Brain Hippocampus Middle	brain
29	chr11:77452000-77464800	Weak transcription	GM12878-XiMat	blood
30	chr11:77452000-77465000	Weak transcription	Placenta	Placenta
31	chr11:77452000-77465800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr11:77452000-77465800	Weak transcription	Fetal Brain Male	brain
33	chr11:77452000-77479400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr11:77452200-77464400	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr11:77452200-77473400	Weak transcription	Hela-S3	cervix
36	chr11:77452200-77481600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr11:77452400-77464400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr11:77452400-77464600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr11:77452600-77464400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr11:77452600-77464600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr11:77452600-77464800	Weak transcription	Fetal Stomach	stomach
42	chr11:77452600-77474600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr11:77453000-77464400	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr11:77453000-77464400	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr11:77453000-77464400	Weak transcription	Fetal Muscle Trunk	muscle
46	chr11:77453200-77473200	Weak transcription	Duodenum Mucosa	Duodenum
47	chr11:77453800-77464800	Weak transcription	Fetal Lung	lung
48	chr11:77455800-77464800	Weak transcription	Fetal Thymus	thymus
49	chr11:77456600-77464800	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr11:77458800-77464800	Weak transcription	A549	lung

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