Variant report

Variant	rs534073
Chromosome Location	chr11:64421052-64421053
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64072922..64075153-chr11:64420349..64423675,3	MCF-7	breast:
2	chr11:64009166..64011101-chr11:64420717..64422673,2	MCF-7	breast:
3	chr11:64216005..64216939-chr11:64420369..64421221,4	K562	blood:
4	chr11:64216032..64217725-chr11:64420241..64421734,10	MCF-7	breast:
5	chr11:64421030..64421666-chr11:64483138..64484117,2	MCF-7	breast:
6	chr11:64332913..64333460-chr11:64420253..64421187,2	MCF-7	breast:
7	chr11:64399040..64400993-chr11:64420914..64423520,3	K562	blood:
8	chr11:64123857..64124575-chr11:64420219..64421131,3	K562	blood:
9	chr11:64420673..64421273-chr11:64510420..64510982,3	MCF-7	breast:
10	chr11:64125161..64127762-chr11:64418891..64421292,2	MCF-7	breast:
11	chr11:64252262..64254664-chr11:64420625..64422263,2	K562	blood:
12	chr11:64403463..64406447-chr11:64420757..64423034,2	K562	blood:
13	chr11:64256978..64257884-chr11:64420241..64421230,8	MCF-7	breast:
14	chr11:64215881..64217157-chr11:64420235..64421201,5	MCF-7	breast:
15	chr11:64320674..64321889-chr11:64420287..64421217,10	MCF-7	breast:
16	chr11:64420269..64421221-chr11:64455783..64456511,2	MCF-7	breast:
17	chr11:64256558..64257516-chr11:64420267..64421240,6	K562	blood:
18	chr11:64124331..64126810-chr11:64420687..64423364,2	K562	blood:
19	chr11:64420543..64422835-chr11:64510109..64511723,2	MCF-7	breast:
20	chr11:64322277..64322945-chr11:64420424..64421201,2	MCF-7	breast:
21	chr11:64320649..64323299-chr11:64420155..64421512,11	K562	blood:
22	chr11:64419510..64421158-chr11:64490606..64491570,7	MCF-7	breast:
23	chr11:64320623..64321636-chr11:64420262..64421075,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000173486	Chromatin interaction
ENSG00000110076	Chromatin interaction
ENSG00000181908	Chromatin interaction
ENSG00000162302	Chromatin interaction
ENSG00000068831	Chromatin interaction
ENSG00000173153	Chromatin interaction
ENSG00000168065	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10466694	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	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1212851	0.94[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	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17146110	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17146119	0.84[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	0.94[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	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3016759	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41323046	1.00[EUR][1000 genomes]
rs475704	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs512926	1.00[EUR][1000 genomes]
rs516041	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs534052	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs535606	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs541305	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs545167	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs545819	0.95[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	0.94[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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57371796	1.00[EUR][1000 genomes]
rs579175	0.89[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]
rs7113097	1.00[EUR][1000 genomes]
rs7127435	1.00[EUR][1000 genomes]
rs73492134	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73492139	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73492140	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73492144	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73494206	1.00[EUR][1000 genomes]
rs7948607	0.94[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:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	esv1804443	chr11:64386453-64534785	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh 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	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64411600-64427800	Weak transcription	Aorta	Aorta
2	chr11:64412400-64428200	Weak transcription	Right Atrium	heart
3	chr11:64412600-64425600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:64415000-64423600	Weak transcription	NHDF-Ad	bronchial
5	chr11:64415400-64423000	Weak transcription	Osteobl	bone
6	chr11:64415600-64422400	Weak transcription	HSMM	muscle
7	chr11:64415600-64423000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr11:64415800-64430000	Weak transcription	Gastric	stomach
9	chr11:64417000-64422600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr11:64417000-64423400	Weak transcription	HSMMtube	muscle
11	chr11:64417200-64421200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr11:64418600-64421200	Enhancers	Fetal Intestine Small	intestine
13	chr11:64419800-64421200	Enhancers	Brain Hippocampus Middle	brain
14	chr11:64420000-64421200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr11:64420000-64421600	Enhancers	Brain Substantia Nigra	brain
16	chr11:64420000-64422200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr11:64420000-64423000	Enhancers	Fetal Muscle Leg	muscle
18	chr11:64420200-64421200	Enhancers	Fetal Brain Male	brain
19	chr11:64420200-64421200	Bivalent Enhancer	Fetal Stomach	stomach
20	chr11:64420200-64421600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr11:64420200-64422400	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr11:64420200-64426200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr11:64420400-64421200	Enhancers	Brain Angular Gyrus	brain
24	chr11:64420400-64421200	Enhancers	Brain Germinal Matrix	brain
25	chr11:64420400-64421400	Enhancers	Placenta	Placenta
26	chr11:64420400-64422000	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr11:64420400-64423000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
28	chr11:64420400-64423800	Enhancers	Primary B cells from peripheral blood	blood
29	chr11:64420400-64424000	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr11:64420400-64424800	Enhancers	Adipose Nuclei	Adipose
31	chr11:64420400-64425000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr11:64420400-64425200	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr11:64420400-64427800	Enhancers	Fetal Thymus	thymus
34	chr11:64420600-64422400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
35	chr11:64420600-64424000	Enhancers	Primary B cells from cord blood	blood
36	chr11:64420600-64426600	Weak transcription	A549	lung
37	chr11:64420800-64421200	Active TSS	H9 Cell Line	embryonic stem cell
38	chr11:64420800-64421200	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr11:64420800-64421400	Enhancers	H1 Cell Line	embryonic stem cell
40	chr11:64420800-64421600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr11:64420800-64422000	Weak transcription	Liver	Liver
42	chr11:64420800-64422200	Weak transcription	GM12878-XiMat	blood
43	chr11:64420800-64423800	Weak transcription	Fetal Lung	lung
44	chr11:64420800-64426400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr11:64421000-64421200	Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr11:64421000-64422200	Weak transcription	Spleen	Spleen
47	chr11:64421000-64422400	Weak transcription	Hela-S3	cervix
48	chr11:64421000-64423200	Weak transcription	Brain Anterior Caudate	brain
49	chr11:64421000-64423800	Weak transcription	K562	blood
50	chr11:64421000-64424000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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