Variant report

Variant	rs9811423
Chromosome Location	chr3:112822322-112822323
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:112809878..112813820-chr3:112820495..112822351,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000238593	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12695286	0.98[ASN][1000 genomes]
rs7646997	0.90[ASN][1000 genomes]
rs9288968	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][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	esv3431441	chr3:112453467-113213252	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv877344	chr3:112789865-112854339	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Psychosis and Alzheimer's disease	22005930	GWAS catalog

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112784800-112824000	Weak transcription	Primary B cells from cord blood	blood
2	chr3:112808800-112832400	Weak transcription	Primary T cells from cord blood	blood
3	chr3:112815400-112822400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr3:112815600-112822400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr3:112817600-112824000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:112818000-112822400	Weak transcription	A549	lung
7	chr3:112819400-112830400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr3:112821200-112823000	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr3:112821200-112825800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr3:112821600-112823600	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr3:112821600-112825800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr3:112821800-112822800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr3:112821800-112823400	Enhancers	HepG2	liver
14	chr3:112821800-112823400	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr3:112821800-112824600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr3:112821800-112825200	Enhancers	H1 Cell Line	embryonic stem cell
17	chr3:112821800-112825600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr3:112822000-112822800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr3:112822000-112823400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr3:112822000-112823800	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr3:112822000-112824600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr3:112822000-112826400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr3:112822200-112823000	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr3:112822200-112823600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr3:112822200-112825800	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr3:112822200-112826200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr3:112822200-112829400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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