Variant report

Variant	rs10992931
Chromosome Location	chr9:96623111-96623112
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:96622372..96623312-chr9:96724925..96725807,3	MCF-7	breast:
2	chr9:96618460..96620840-chr9:96622073..96624809,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231990	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10739959	0.86[ASN][1000 genomes]
rs10761283	0.90[ASN][1000 genomes]
rs10761284	0.90[ASN][1000 genomes]
rs10761289	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10761290	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10821237	0.88[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10821240	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12337678	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12342315	0.82[ASN][1000 genomes]
rs4744286	0.86[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs72751421	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893588	chr9:96620419-96668352	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96619800-96626000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr9:96622800-96623200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr9:96622800-96623200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr9:96622800-96623400	Bivalent Enhancer	Fetal Stomach	stomach
5	chr9:96622800-96623600	Enhancers	H1 Cell Line	embryonic stem cell
6	chr9:96622800-96623600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr9:96622800-96623600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr9:96622800-96623600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
9	chr9:96622800-96623600	Bivalent Enhancer	Fetal Muscle Leg	muscle
10	chr9:96622800-96623800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr9:96622800-96623800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
12	chr9:96623000-96623200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
13	chr9:96623000-96623200	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr9:96623000-96623200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
15	chr9:96623000-96623200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr9:96623000-96623200	Bivalent Enhancer	Adipose Nuclei	Adipose
17	chr9:96623000-96623200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
18	chr9:96623000-96623200	Bivalent Enhancer	Lung	lung
19	chr9:96623000-96623200	Flanking Bivalent TSS/Enh	Spleen	Spleen
20	chr9:96623000-96623400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr9:96623000-96623400	Bivalent/Poised TSS	Psoas Muscle	Psoas
22	chr9:96623000-96623600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr9:96623000-96623600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
24	chr9:96623000-96623600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr9:96623000-96623600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
26	chr9:96623000-96623600	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
27	chr9:96623000-96623600	Bivalent/Poised TSS	Right Ventricle	heart
28	chr9:96623000-96623800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr9:96623000-96624200	Bivalent Enhancer	Fetal Brain Male	brain

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