Variant report

Variant	rs73492297
Chromosome Location	chr11:63626712-63626713
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:63626669..63629006-chr11:63629187..63632066,2	MCF-7	breast:
2	chr11:63625137..63626713-chr11:63634988..63636619,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000072518	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11825727	1.00[AMR][1000 genomes]
rs57058815	1.00[AMR][1000 genomes]
rs58822345	1.00[AMR][1000 genomes]
rs59054123	1.00[AMR][1000 genomes]
rs59146342	1.00[AMR][1000 genomes]
rs60725842	1.00[AMR][1000 genomes]
rs61184552	1.00[AMR][1000 genomes]
rs7125886	1.00[AMR][1000 genomes]
rs73492260	1.00[AMR][1000 genomes]
rs73492262	1.00[AMR][1000 genomes]
rs73492266	1.00[AMR][1000 genomes]
rs73492273	1.00[AMR][1000 genomes]
rs73492274	1.00[AMR][1000 genomes]
rs73492287	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73494110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73494112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73494126	1.00[AMR][1000 genomes]
rs73494128	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73494144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73494160	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73494167	1.00[AMR][1000 genomes]
rs73494181	1.00[AMR][1000 genomes]
rs73496034	1.00[AMR][1000 genomes]
rs73496075	1.00[AMR][1000 genomes]
rs73496090	1.00[AMR][1000 genomes]
rs73496096	1.00[AMR][1000 genomes]
rs73496099	1.00[AMR][1000 genomes]
rs73496100	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv468589	chr11:63515752-63713239	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv555180	chr11:63515752-63713239	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS 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 target site	39 gene(s)	inside rSNPs	diseases
4	esv1839119	chr11:63615554-63680052	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63609600-63629600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:63610200-63633200	Weak transcription	Fetal Brain Male	brain
3	chr11:63611800-63629800	Weak transcription	Aorta	Aorta
4	chr11:63613200-63632400	Weak transcription	Fetal Brain Female	brain
5	chr11:63613200-63633000	Weak transcription	HSMM	muscle
6	chr11:63615800-63628200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr11:63615800-63633200	Weak transcription	HMEC	breast
8	chr11:63615800-63634800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr11:63615800-63636000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr11:63615800-63636000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr11:63615800-63636000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:63617000-63629600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr11:63617200-63629400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr11:63618800-63629000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr11:63618800-63629000	Weak transcription	Fetal Muscle Leg	muscle
16	chr11:63619000-63632600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:63619200-63628400	Weak transcription	NHEK	skin
18	chr11:63619200-63629200	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr11:63619200-63629200	Weak transcription	Thymus	Thymus
20	chr11:63619200-63638000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr11:63619400-63629600	Weak transcription	Liver	Liver
22	chr11:63619400-63629600	Weak transcription	Esophagus	oesophagus
23	chr11:63619400-63639400	Weak transcription	Ovary	ovary
24	chr11:63619600-63629600	Weak transcription	Primary hematopoietic stem cells	blood
25	chr11:63619600-63629800	Weak transcription	Stomach Smooth Muscle	stomach
26	chr11:63619600-63630200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr11:63619600-63633000	Weak transcription	Colon Smooth Muscle	Colon
28	chr11:63619600-63633000	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr11:63619600-63634000	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr11:63619600-63636000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr11:63619600-63636000	Weak transcription	HSMMtube	muscle
32	chr11:63619600-63639200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr11:63620400-63629400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr11:63621200-63629800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr11:63621600-63627800	Genic enhancers	Fetal Intestine Small	intestine
36	chr11:63622400-63626800	Weak transcription	Fetal Stomach	stomach
37	chr11:63622400-63628800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr11:63622400-63628800	Weak transcription	Dnd41	blood
39	chr11:63622600-63626800	Enhancers	Duodenum Mucosa	Duodenum
40	chr11:63622600-63627800	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr11:63622800-63626800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr11:63622800-63628000	Enhancers	Fetal Intestine Large	intestine
43	chr11:63622800-63633000	Weak transcription	Fetal Lung	lung
44	chr11:63623000-63627000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr11:63623000-63629600	Weak transcription	Brain Germinal Matrix	brain
46	chr11:63623400-63627800	Enhancers	Placenta	Placenta
47	chr11:63623400-63629000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr11:63623400-63630400	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr11:63623600-63627000	Enhancers	Pancreas	Pancrea
50	chr11:63623600-63627200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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