Variant report

Variant	rs9330326
Chromosome Location	chr2:110263551-110263552
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:110263154..110265129-chr6:64281633..64283809,2	MCF-7	breast:
2	chr2:110262467..110264874-chr2:110272739..110275186,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000112245	Chromatin interaction
ENSG00000266680	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12719999	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28520382	0.87[ASN][1000 genomes]
rs28634501	0.83[ASN][1000 genomes]
rs28812293	0.86[AFR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4953844	0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs6732116	0.89[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9330313	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9330315	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9330327	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9678113	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9751647	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9751995	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9752241	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs990967	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874777	chr2:109825516-110693317	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv874779	chr2:110030964-110270250	Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv874780	chr2:110078080-110432886	Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:110256200-110270800	Weak transcription	Esophagus	oesophagus
2	chr2:110256200-110270800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr2:110256200-110271400	Weak transcription	Ovary	ovary
4	chr2:110257600-110265400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr2:110257800-110263600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr2:110257800-110265200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr2:110257800-110287800	Weak transcription	Gastric	stomach
8	chr2:110258200-110271200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr2:110259600-110264400	Weak transcription	Fetal Thymus	thymus
10	chr2:110259600-110267600	Weak transcription	NHLF	lung
11	chr2:110260800-110263600	Weak transcription	Fetal Brain Male	brain
12	chr2:110261200-110263800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:110261400-110263800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:110261600-110263800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:110261600-110271200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr2:110262000-110263600	Weak transcription	Primary T cells from cord blood	blood
17	chr2:110262000-110266400	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr2:110262200-110264000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:110262400-110263800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
20	chr2:110262400-110267600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:110262600-110263800	ZNF genes & repeats	Brain Germinal Matrix	brain
22	chr2:110262800-110264000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:110262800-110264200	ZNF genes & repeats	Fetal Brain Female	brain
24	chr2:110262800-110270400	Weak transcription	Right Ventricle	heart
25	chr2:110263200-110263800	ZNF genes & repeats	Brain Hippocampus Middle	brain
26	chr2:110263200-110263800	ZNF genes & repeats	HSMMtube	muscle
27	chr2:110263400-110263800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:110263400-110263800	ZNF genes & repeats	Colon Smooth Muscle	Colon

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