Variant report

Variant	rs73483978
Chromosome Location	chr11:62490984-62490985
allele	A/C
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:62429885..62432914-chr11:62489795..62492762,3	K562	blood:
2	chr11:62429368..62441438-chr11:62488512..62498189,36	K562	blood:
3	chr11:62488563..62492958-chr11:62605144..62610518,7	K562	blood:
4	chr11:62322426..62325405-chr11:62488760..62491584,2	MCF-7	breast:
5	chr11:62490929..62492552-chr11:62607779..62609469,2	MCF-7	breast:
6	chr11:62489679..62493629-chr11:62495825..62497896,4	K562	blood:
7	chr11:62487366..62497836-chr11:62605953..62610629,27	K562	blood:
8	chr11:62490518..62493478-chr11:62553456..62555754,3	MCF-7	breast:
9	chr11:62489834..62499984-chr11:62527523..62534733,19	MCF-7	breast:
10	chr11:62487017..62500577-chr11:62602457..62611761,54	MCF-7	breast:
11	chr11:62431330..62441336-chr11:62489515..62497875,29	MCF-7	breast:
12	chr11:62488201..62492065-chr11:62621719..62624928,3	MCF-7	breast:
13	chr11:62489711..62491789-chr11:62527805..62529404,2	MCF-7	breast:
14	chr11:62490982..62494265-chr11:62506317..62509112,3	MCF-7	breast:
15	chr11:62488724..62491125-chr11:62553688..62555260,2	MCF-7	breast:
16	chr11:62490888..62495085-chr11:62569701..62574134,8	K562	blood:

No data

Variant related genes	Relation type
ENSG00000269176	Chromatin interaction
ENSG00000168002	Chromatin interaction
ENSG00000168003	Chromatin interaction
ENSG00000255432	Chromatin interaction
ENSG00000214756	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000206597	Chromatin interaction
ENSG00000124942	Chromatin interaction
ENSG00000162222	Chromatin interaction
ENSG00000162194	Chromatin interaction
ENSG00000255717	Chromatin interaction
ENSG00000204922	Chromatin interaction
ENSG00000162231	Chromatin interaction
ENSG00000185475	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11231123	1.00[EUR][1000 genomes]
rs11231220	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11828907	1.00[EUR][1000 genomes]
rs12270342	1.00[AMR][1000 genomes]
rs12288417	1.00[AMR][1000 genomes]
rs12290152	1.00[AMR][1000 genomes]
rs12292281	1.00[AMR][1000 genomes]
rs12295052	1.00[AMR][1000 genomes]
rs12295516	1.00[AMR][1000 genomes]
rs17157352	1.00[EUR][1000 genomes]
rs28400288	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34320415	1.00[EUR][1000 genomes]
rs3888584	1.00[EUR][1000 genomes]
rs41346047	1.00[EUR][1000 genomes]
rs41427449	1.00[EUR][1000 genomes]
rs56994557	1.00[AMR][1000 genomes]
rs57799986	1.00[EUR][1000 genomes]
rs58003814	1.00[AMR][1000 genomes]
rs58505493	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58792209	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59143369	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61088491	1.00[AMR][1000 genomes]
rs73483955	1.00[AMR][1000 genomes]
rs73483965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73485621	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73485634	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73485689	1.00[AMR][1000 genomes]
rs73487820	1.00[AMR][1000 genomes]
rs73487823	1.00[AMR][1000 genomes]
rs73487824	1.00[AMR][1000 genomes]
rs73487852	1.00[AMR][1000 genomes]
rs73487868	1.00[AMR][1000 genomes]
rs73500265	1.00[EUR][1000 genomes]
rs73500293	1.00[EUR][1000 genomes]
rs73502105	1.00[EUR][1000 genomes]
rs73502120	1.00[EUR][1000 genomes]
rs73502144	1.00[AMR][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	nsv915636	chr11:62016992-62713565	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1441 gene(s)	inside rSNPs	diseases
2	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
3	nsv532284	chr11:62220043-62630253	Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1401 gene(s)	inside rSNPs	diseases
4	nsv497903	chr11:62330308-62608042	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	489 gene(s)	inside rSNPs	diseases
5	nsv555174	chr11:62334096-62496519	Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	243 gene(s)	inside rSNPs	diseases
6	nsv897623	chr11:62438819-62603916	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	215 gene(s)	inside rSNPs	diseases
7	nsv348	chr11:62474450-62519712	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62477400-62493000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:62477800-62491000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr11:62477800-62491200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr11:62477800-62491400	Strong transcription	NHEK	skin
5	chr11:62477800-62491600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:62477800-62491600	Strong transcription	Thymus	Thymus
7	chr11:62477800-62491600	Strong transcription	NH-A	brain
8	chr11:62478000-62491200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr11:62478000-62491200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr11:62478000-62491400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:62478000-62491400	Strong transcription	HMEC	breast
12	chr11:62478000-62491600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:62478000-62491600	Strong transcription	Fetal Kidney	kidney
14	chr11:62478000-62491600	Strong transcription	Osteobl	bone
15	chr11:62478000-62491800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr11:62478000-62491800	Strong transcription	Fetal Muscle Trunk	muscle
17	chr11:62478000-62491800	Strong transcription	HSMM	muscle
18	chr11:62478000-62492000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:62478000-62492200	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr11:62478200-62491000	Strong transcription	Skeletal Muscle Female	skeletal muscle
21	chr11:62478200-62491200	Strong transcription	HSMMtube	muscle
22	chr11:62478200-62491400	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr11:62478200-62491400	Strong transcription	HUVEC	blood vessel
24	chr11:62478200-62491600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr11:62478200-62491600	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr11:62478200-62491600	Strong transcription	Fetal Thymus	thymus
27	chr11:62478200-62491600	Strong transcription	Placenta Amnion	Placenta Amnion
28	chr11:62478200-62491800	Strong transcription	H9 Cell Line	embryonic stem cell
29	chr11:62478200-62491800	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr11:62478200-62491800	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr11:62478400-62491000	Strong transcription	Brain Hippocampus Middle	brain
32	chr11:62478400-62491000	Strong transcription	Brain Inferior Temporal Lobe	brain
33	chr11:62478400-62491400	Strong transcription	Brain Anterior Caudate	brain
34	chr11:62478400-62491400	Strong transcription	Fetal Brain Female	brain
35	chr11:62478400-62491400	Strong transcription	Skeletal Muscle Male	skeletal muscle
36	chr11:62478400-62491400	Strong transcription	Stomach Smooth Muscle	stomach
37	chr11:62478400-62491600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr11:62478400-62491600	Strong transcription	Fetal Muscle Leg	muscle
39	chr11:62478400-62491600	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr11:62478400-62491800	Strong transcription	Fetal Stomach	stomach
41	chr11:62478600-62491000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr11:62478600-62491600	Strong transcription	Lung	lung
43	chr11:62478800-62491000	Strong transcription	Colonic Mucosa	Colon
44	chr11:62478800-62491400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr11:62479000-62491600	Strong transcription	Primary hematopoietic stem cells	blood
46	chr11:62479200-62491200	Strong transcription	Aorta	Aorta
47	chr11:62479600-62491200	Strong transcription	Rectal Smooth Muscle	rectum
48	chr11:62479800-62491400	Strong transcription	Primary B cells from cord blood	blood
49	chr11:62480600-62492000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
50	chr11:62480800-62491200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood

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