Variant report

Variant	rs61897426
Chromosome Location	chr11:47416569-47416570
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:47413542..47416726-chr11:47428745..47432834,3	MCF-7	breast:
2	chr11:47416151..47418895-chr11:47586699..47588478,2	MCF-7	breast:
3	chr11:47395359..47404298-chr11:47408556..47417905,22	K562	blood:
4	chr11:47411629..47418031-chr11:47425327..47431880,15	K562	blood:

Variant related genes	Relation type
ENSG00000213619	Chromatin interaction
ENSG00000066336	Chromatin interaction
ENSG00000255197	Chromatin interaction
ENSG00000165915	Chromatin interaction
ENSG00000110536	Chromatin interaction
ENSG00000149187	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	0.92[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	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57680742	0.85[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61895077	0.90[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	0.89[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]
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	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61897434	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7102372	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7104800	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7108608	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7116534	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9919527	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9919657	0.92[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:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47399400-47421400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr11:47399800-47421200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr11:47400000-47416800	Weak transcription	Brain Anterior Caudate	brain
4	chr11:47400000-47421200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr11:47408400-47418000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr11:47409200-47417800	Enhancers	Spleen	Spleen
7	chr11:47409800-47417600	Enhancers	Fetal Muscle Leg	muscle
8	chr11:47410000-47416800	Weak transcription	Brain Substantia Nigra	brain
9	chr11:47410200-47421200	Weak transcription	Fetal Intestine Small	intestine
10	chr11:47412400-47417800	Enhancers	Fetal Muscle Trunk	muscle
11	chr11:47412600-47417800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:47413000-47417800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr11:47413600-47416600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr11:47414200-47417800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:47414400-47417600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr11:47414400-47417800	Enhancers	Lung	lung
17	chr11:47414600-47416600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr11:47414600-47416600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr11:47414600-47417600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
20	chr11:47414600-47417800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr11:47414600-47421200	Weak transcription	Stomach Mucosa	stomach
22	chr11:47414800-47417600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr11:47415000-47416600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr11:47415000-47416800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr11:47415000-47416800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr11:47415000-47416800	Enhancers	Osteobl	bone
27	chr11:47415000-47417600	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr11:47415000-47417600	Enhancers	HUVEC	blood vessel
29	chr11:47415200-47417200	Enhancers	Right Ventricle	heart
30	chr11:47415200-47421200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr11:47415400-47416800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr11:47415400-47417400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr11:47415400-47419400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr11:47415400-47419600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr11:47415400-47421200	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr11:47415400-47421400	Weak transcription	Right Atrium	heart
37	chr11:47415600-47416800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
38	chr11:47415600-47416800	Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr11:47415600-47416800	Enhancers	Esophagus	oesophagus
40	chr11:47415600-47416800	Enhancers	HepG2	liver
41	chr11:47415600-47417400	Flanking Active TSS	Primary hematopoietic stem cells	blood
42	chr11:47415600-47419800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr11:47415600-47421400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr11:47415800-47416600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr11:47415800-47416600	Weak transcription	Fetal Stomach	stomach
46	chr11:47415800-47416600	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr11:47415800-47416600	Genic enhancers	NHLF	lung
48	chr11:47415800-47416800	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr11:47415800-47416800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
50	chr11:47415800-47417000	Flanking Active TSS	Primary T cells fromperipheralblood	blood

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