Variant report

Variant	rs2192440
Chromosome Location	chr12:9863574-9863575
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:9798330..9801052-chr12:9860989..9864813,3	K562	blood:
2	chr12:9824506..9827100-chr12:9861527..9863862,2	K562	blood:
3	chr12:9853903..9855741-chr12:9860997..9863949,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256442	Chromatin interaction
ENSG00000069493	Chromatin interaction
ENSG00000256594	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10734807	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10734809	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2192436	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2401389	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4508286	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4763738	0.90[EUR][1000 genomes]
rs4763812	0.90[EUR][1000 genomes]
rs59667611	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7302498	0.90[EUR][1000 genomes]
rs7964290	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:20 , 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	chr12:9860800-9864400	Weak transcription	A549	lung
5	chr12:9861000-9873200	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr12:9861000-9874200	Weak transcription	Fetal Thymus	thymus
7	chr12:9861400-9864400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr12:9861400-9864600	Weak transcription	Primary T cells from cord blood	blood
9	chr12:9861600-9882400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr12:9861800-9868200	Enhancers	GM12878-XiMat	blood
11	chr12:9861800-9874000	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr12:9863000-9863800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:9863000-9864000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:9863000-9864000	Enhancers	Placenta	Placenta
15	chr12:9863000-9864600	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr12:9863200-9863800	Enhancers	Spleen	Spleen
17	chr12:9863200-9864800	Enhancers	HSMMtube	muscle
18	chr12:9863400-9863600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr12:9863400-9864800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr12:9863400-9864800	Enhancers	Fetal Heart	heart

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