Variant report

Variant	rs73821292
Chromosome Location	chr3:23247848-23247849
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr3:23247800-23248049	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:23247004..23248744-chr3:23272999..23274643,2	K562	blood:
2	chr3:23243580..23246628-chr3:23247045..23250539,6	MCF-7	breast:
3	chr3:23244971..23246744-chr3:23246760..23249188,3	MCF-7	breast:
4	chr3:23245201..23247930-chr3:23252122..23255042,2	K562	blood:

Variant related genes	Relation type
UBE2E2-AS1	TF binding region
ENSG00000233153	Chromatin interaction
ENSG00000182247	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11915691	1.00[AMR][1000 genomes]
rs11915870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11922172	0.84[AFR][1000 genomes]
rs55735302	1.00[AMR][1000 genomes]
rs57027356	0.84[AFR][1000 genomes]
rs59513149	1.00[AMR][1000 genomes]
rs73821166	1.00[AFR][1000 genomes]
rs73821240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73821248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73821263	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73821295	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73823446	0.84[AFR][1000 genomes]
rs73823457	1.00[AMR][1000 genomes]
rs73823465	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999882	chr3:23121533-23257718	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv834636	chr3:23138653-23301443	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23245600-23251400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr3:23245600-23253400	Weak transcription	Lung	lung
3	chr3:23245800-23253200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:23245800-23262800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr3:23246000-23253000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr3:23246000-23260800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr3:23246200-23248600	Weak transcription	Fetal Heart	heart
8	chr3:23246200-23251200	Weak transcription	Primary B cells from peripheral blood	blood
9	chr3:23246200-23251200	Weak transcription	Fetal Muscle Leg	muscle
10	chr3:23246200-23251200	Weak transcription	Psoas Muscle	Psoas
11	chr3:23246200-23252200	Weak transcription	Fetal Stomach	stomach
12	chr3:23246200-23257200	Weak transcription	Ovary	ovary
13	chr3:23246200-23257400	Weak transcription	Left Ventricle	heart
14	chr3:23246200-23258800	Weak transcription	HSMM	muscle
15	chr3:23246200-23259000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr3:23246200-23259000	Weak transcription	Colon Smooth Muscle	Colon
17	chr3:23246200-23259200	Weak transcription	NH-A	brain
18	chr3:23246200-23260600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr3:23246200-23264200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr3:23246400-23248000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr3:23246400-23250000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr3:23246400-23250800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr3:23246400-23251000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr3:23246400-23251400	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr3:23246400-23253200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr3:23246400-23259400	Weak transcription	Osteobl	bone
27	chr3:23246400-23261200	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr3:23246400-23273400	Weak transcription	Aorta	Aorta
29	chr3:23246600-23248000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr3:23246600-23248000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr3:23246600-23248000	Weak transcription	Thymus	Thymus
32	chr3:23246600-23248000	Weak transcription	HSMMtube	muscle
33	chr3:23246600-23248400	Enhancers	Primary B cells from cord blood	blood
34	chr3:23246600-23248800	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr3:23246600-23249200	Enhancers	Brain Hippocampus Middle	brain
36	chr3:23246600-23251200	Weak transcription	Adipose Nuclei	Adipose
37	chr3:23246600-23251200	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr3:23246600-23251200	Weak transcription	HMEC	breast
39	chr3:23246600-23251400	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr3:23246600-23252800	Weak transcription	HUVEC	blood vessel
41	chr3:23246600-23254800	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr3:23246600-23258800	Weak transcription	Fetal Lung	lung
43	chr3:23246600-23259000	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr3:23246600-23259000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr3:23246600-23259200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr3:23246600-23259200	Weak transcription	Stomach Smooth Muscle	stomach
47	chr3:23246600-23260000	Weak transcription	NHEK	skin
48	chr3:23246600-23260800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr3:23246600-23262400	Weak transcription	Primary hematopoietic stem cells	blood
50	chr3:23246800-23248800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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