Variant report

Variant	rs7108608
Chromosome Location	chr11:47433070-47433071
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:47391440..47404809-chr11:47427075..47436409,23	K562	blood:
2	chr11:47236484..47238469-chr11:47432322..47435260,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134574	Chromatin interaction
ENSG00000066336	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12285933	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17726706	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17726787	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs45547231	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45603036	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45617144	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56007045	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57680742	0.92[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61895077	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61895081	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61895104	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61895111	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61895113	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61897391	0.81[EUR][1000 genomes]
rs61897423	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61897424	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61897426	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61897429	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61897430	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61897432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61897434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7102372	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7104800	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7116534	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9919527	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9919657	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv917316	chr11:47232210-47448882	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	esv3330173	chr11:47289256-47450681	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	esv3416377	chr11:47289276-47450651	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv832141	chr11:47333180-47520993	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	nsv825871	chr11:47376020-47457537	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv554210	chr11:47380593-47449544	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
8	nsv541034	chr11:47404083-47440081	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
9	nsv897325	chr11:47411736-47600438	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
10	nsv1036011	chr11:47413060-47582279	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47430800-47434200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr11:47430800-47434200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr11:47431000-47433400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:47431000-47434000	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:47431000-47435000	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr11:47431000-47435400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr11:47431000-47435400	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr11:47431000-47439200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:47431000-47440000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr11:47431000-47442000	Weak transcription	Primary B cells from cord blood	blood
11	chr11:47431200-47433600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr11:47431200-47434000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr11:47431200-47435000	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr11:47431200-47435200	Weak transcription	Primary T cells from cord blood	blood
15	chr11:47431200-47435400	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr11:47431200-47435400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr11:47431200-47435600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr11:47431200-47437600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr11:47431200-47439000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr11:47431200-47439800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr11:47431200-47440600	Weak transcription	Small Intestine	intestine
22	chr11:47431200-47447200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr11:47431400-47433200	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr11:47431400-47433400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr11:47431400-47434800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr11:47431400-47435000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr11:47431400-47435000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr11:47431400-47435200	Weak transcription	Liver	Liver
29	chr11:47431400-47436600	Weak transcription	Psoas Muscle	Psoas
30	chr11:47431400-47440400	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr11:47431600-47433200	Weak transcription	Primary B cells from peripheral blood	blood
32	chr11:47431600-47433800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
33	chr11:47431600-47434000	Genic enhancers	Brain Germinal Matrix	brain
34	chr11:47431600-47434000	Genic enhancers	Lung	lung
35	chr11:47431600-47434200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
36	chr11:47431600-47434800	Weak transcription	Aorta	Aorta
37	chr11:47431600-47435000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr11:47431600-47435000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr11:47431600-47435400	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr11:47431600-47437400	Strong transcription	Fetal Intestine Small	intestine
41	chr11:47431600-47437800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr11:47431600-47439000	Weak transcription	K562	blood
43	chr11:47431600-47439600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr11:47431600-47439800	Weak transcription	GM12878-XiMat	blood
45	chr11:47431600-47440200	Genic enhancers	Right Ventricle	heart
46	chr11:47431600-47440400	Weak transcription	Fetal Kidney	kidney
47	chr11:47431600-47446400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr11:47431800-47433400	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr11:47431800-47435200	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr11:47431800-47437000	Weak transcription	Right Atrium	heart

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