Variant report

Variant	rs59293034
Chromosome Location	chr11:77455493-77455494
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:77455237-77455514	Gliobla	brain:	n/a	n/a
2	POLR2A	chr11:77455487-77455495	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
RSF1-IT1	TF binding region

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

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs35216705	1.00[AMR][1000 genomes]
rs56709311	1.00[AMR][1000 genomes]
rs57008614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57229097	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57544945	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58758035	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59231807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60695213	1.00[AMR][1000 genomes]
rs60704733	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61186004	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73492001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73493811	1.00[AFR][1000 genomes]
rs73493813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73493836	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73493884	1.00[AMR][1000 genomes]
rs73495954	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73498844	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73498845	1.00[AMR][1000 genomes]
rs73498851	1.00[AMR][1000 genomes]
rs73498854	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73498869	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73498882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73498884	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73499843	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73500705	1.00[AMR][1000 genomes]
rs73500729	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73500735	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73500750	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73500752	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73500756	1.00[AMR][1000 genomes]
rs73500773	1.00[AMR][1000 genomes]
rs73501867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73504713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73504718	1.00[AMR][1000 genomes]
rs73504734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73504744	1.00[AMR][1000 genomes]
rs73504765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73504777	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73504800	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73506711	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73506717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73506724	1.00[AMR][1000 genomes]
rs73506730	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73506734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73506737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73506741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73506742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73506754	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73506778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73508705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73508715	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73508720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73508738	1.00[AFR][1000 genomes]
rs73508749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77394600-77458800	Weak transcription	Small Intestine	intestine
2	chr11:77394800-77462600	Weak transcription	Fetal Heart	heart
3	chr11:77409600-77458800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr11:77409600-77478200	Weak transcription	Brain Angular Gyrus	brain
5	chr11:77410400-77477600	Weak transcription	Brain Substantia Nigra	brain
6	chr11:77431600-77482400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr11:77436200-77458600	Weak transcription	HSMMtube	muscle
8	chr11:77436200-77462600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr11:77436200-77463000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr11:77436200-77473400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr11:77436200-77477000	Weak transcription	Colonic Mucosa	Colon
12	chr11:77436600-77473200	Weak transcription	NHDF-Ad	bronchial
13	chr11:77436800-77458600	Weak transcription	NH-A	brain
14	chr11:77442400-77458200	Weak transcription	Colon Smooth Muscle	Colon
15	chr11:77442400-77458400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr11:77442400-77458400	Weak transcription	NHEK	skin
17	chr11:77442400-77458600	Weak transcription	Psoas Muscle	Psoas
18	chr11:77442400-77458600	Weak transcription	HMEC	breast
19	chr11:77442400-77463600	Weak transcription	Brain Anterior Caudate	brain
20	chr11:77442400-77472600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr11:77442800-77474600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr11:77442800-77500200	Weak transcription	Pancreas	Pancrea
23	chr11:77443000-77465800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr11:77443200-77473600	Weak transcription	Fetal Brain Female	brain
25	chr11:77443200-77500200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr11:77443400-77458400	Weak transcription	A549	lung
27	chr11:77443400-77464400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr11:77443800-77465800	Weak transcription	Brain Germinal Matrix	brain
29	chr11:77444200-77455600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:77445000-77458600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr11:77445400-77455800	Strong transcription	Primary B cells from peripheral blood	blood
32	chr11:77445800-77476800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:77446000-77465800	Weak transcription	Fetal Kidney	kidney
34	chr11:77446200-77458400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr11:77446200-77458800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr11:77446200-77461600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr11:77446200-77461800	Weak transcription	Gastric	stomach
38	chr11:77446200-77463200	Weak transcription	Aorta	Aorta
39	chr11:77446200-77463200	Weak transcription	Left Ventricle	heart
40	chr11:77446200-77464800	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr11:77446200-77465800	Weak transcription	Stomach Smooth Muscle	stomach
42	chr11:77446200-77467200	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr11:77446200-77482400	Weak transcription	Spleen	Spleen
44	chr11:77446400-77458600	Weak transcription	NHLF	lung
45	chr11:77446400-77459000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr11:77446400-77463400	Weak transcription	Fetal Intestine Large	intestine
47	chr11:77446400-77463600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr11:77446400-77463600	Weak transcription	Lung	lung
49	chr11:77446400-77474800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr11:77447800-77465800	Weak transcription	Adipose Nuclei	Adipose

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