Variant report

Variant	rs73059569
Chromosome Location	chr12:9864517-9864518
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:9798330..9801052-chr12:9860989..9864813,3	K562	blood:

Variant related genes	Relation type
ENSG00000256594	Chromatin interaction
ENSG00000256442	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs73057567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	esv2758293	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
2	esv2759878	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
3	nsv983235	chr12:9852218-9893776	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv2757490	chr12:9855958-9888553	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv442255	chr12:9862078-9874924	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv3693109	chr12:9863968-9876091	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9840600-9864600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:9858000-9872200	Enhancers	Primary B cells from peripheral blood	blood
3	chr12:9859000-9870200	Enhancers	Primary B cells from cord blood	blood
4	chr12:9861000-9873200	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr12:9861000-9874200	Weak transcription	Fetal Thymus	thymus
6	chr12:9861400-9864600	Weak transcription	Primary T cells from cord blood	blood
7	chr12:9861600-9882400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr12:9861800-9868200	Enhancers	GM12878-XiMat	blood
9	chr12:9861800-9874000	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr12:9863000-9864600	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr12:9863200-9864800	Enhancers	HSMMtube	muscle
12	chr12:9863400-9864800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr12:9863400-9864800	Enhancers	Fetal Heart	heart
14	chr12:9863600-9864600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr12:9863800-9864600	Enhancers	HSMM	muscle
16	chr12:9863800-9864800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr12:9864000-9865000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:9864000-9873600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr12:9864200-9864600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr12:9864200-9864800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr12:9864400-9864800	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr12:9864400-9864800	Enhancers	A549	lung

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