Variant report

Variant	rs73485621
Chromosome Location	chr11:62517834-62517835
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:62493269..62497541-chr11:62514496..62518469,4	MCF-7	breast:
2	chr11:62516407..62518083-chr11:62571539..62574213,2	K562	blood:
3	chr11:62508705..62510383-chr11:62516896..62519171,2	K562	blood:
4	chr11:62514409..62518599-chr11:62519717..62524308,5	K562	blood:
5	chr11:62494328..62495930-chr11:62516704..62518400,2	K562	blood:
6	chr11:62491539..62497784-chr11:62516835..62523459,19	MCF-7	breast:
7	chr11:62500518..62507069-chr11:62517079..62523179,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000214753	Chromatin interaction
ENSG00000185670	Chromatin interaction
ENSG00000234857	Chromatin interaction
ENSG00000162231	Chromatin interaction
ENSG00000162222	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11231123	1.00[EUR][1000 genomes]
rs11231220	0.94[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]
rs28400288	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34320415	1.00[EUR][1000 genomes]
rs41346047	1.00[EUR][1000 genomes]
rs56994557	1.00[AMR][1000 genomes]
rs58003814	1.00[AMR][1000 genomes]
rs58505493	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58792209	0.88[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	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73483978	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73485634	1.00[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:6 , 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	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
6	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62496800-62521000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:62497400-62520400	Weak transcription	Psoas Muscle	Psoas
3	chr11:62497600-62519400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr11:62497800-62519600	Weak transcription	Gastric	stomach
5	chr11:62499000-62520800	Weak transcription	Fetal Brain Male	brain
6	chr11:62499200-62520800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:62503200-62520800	Weak transcription	HUVEC	blood vessel
8	chr11:62506200-62520800	Weak transcription	HSMM	muscle
9	chr11:62506400-62520800	Weak transcription	HSMMtube	muscle
10	chr11:62506400-62521000	Weak transcription	Small Intestine	intestine
11	chr11:62506600-62519400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr11:62506600-62519400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr11:62506600-62519600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr11:62506600-62519800	Weak transcription	HMEC	breast
15	chr11:62506600-62520800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr11:62507000-62520200	Weak transcription	Colonic Mucosa	Colon
17	chr11:62507200-62520600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr11:62507200-62520800	Weak transcription	HepG2	liver
19	chr11:62507400-62518400	Weak transcription	Colon Smooth Muscle	Colon
20	chr11:62507600-62519400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr11:62507600-62519600	Weak transcription	Ovary	ovary
22	chr11:62507600-62519600	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr11:62507600-62519600	Weak transcription	Right Ventricle	heart
24	chr11:62507600-62519800	Weak transcription	Fetal Lung	lung
25	chr11:62507800-62519400	Weak transcription	Esophagus	oesophagus
26	chr11:62507800-62519600	Weak transcription	Hela-S3	cervix
27	chr11:62507800-62520800	Weak transcription	NH-A	brain
28	chr11:62508200-62519600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr11:62508400-62518400	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr11:62508400-62519600	Weak transcription	A549	lung
31	chr11:62508600-62519600	Weak transcription	Aorta	Aorta
32	chr11:62508600-62519800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr11:62508600-62520400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr11:62508800-62519400	Weak transcription	Fetal Intestine Large	intestine
35	chr11:62508800-62519400	Weak transcription	Left Ventricle	heart
36	chr11:62509000-62518200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr11:62509000-62518400	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr11:62509000-62519600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr11:62509000-62519600	Weak transcription	Lung	lung
40	chr11:62509000-62520400	Weak transcription	GM12878-XiMat	blood
41	chr11:62509000-62520600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr11:62509000-62520800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr11:62509200-62519400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr11:62509200-62519400	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr11:62509200-62520400	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr11:62509200-62520400	Weak transcription	Brain Germinal Matrix	brain
47	chr11:62509400-62519600	Weak transcription	Liver	Liver
48	chr11:62509600-62519400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr11:62509600-62519600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr11:62509600-62519600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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