Variant report

Variant	rs10993072
Chromosome Location	chr9:96915002-96915003
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:96912919..96916926-chr9:96917380..96923023,7	K562	blood:
2	chr9:96909256..96912834-chr9:96914432..96917620,5	K562	blood:
3	chr9:96906524..96908540-chr9:96912648..96916811,3	K562	blood:
4	chr9:96914186..96916258-chr9:96926697..96929514,3	MCF-7	breast:
5	chr9:96913449..96915470-chr9:96932041..96933932,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000269946	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10512230	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10739971	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10761320	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10761323	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10761324	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10821303	0.86[JPT][hapmap]
rs10821305	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10821306	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10821310	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10821311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10821316	0.85[EUR][1000 genomes]
rs10821317	0.95[CEU][hapmap];0.85[EUR][1000 genomes]
rs10993073	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10993074	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10993075	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10993095	0.96[CEU][hapmap];0.86[CHB][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10993096	0.95[CEU][hapmap];0.85[EUR][1000 genomes]
rs10993097	0.85[EUR][1000 genomes]
rs10993100	0.85[EUR][1000 genomes]
rs11790972	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12004367	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs12551019	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13293512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2039012	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34181781	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs36030019	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7025395	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7030004	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs7865876	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7866254	0.80[JPT][hapmap]
rs9409498	0.96[CEU][hapmap]
rs9409706	0.95[CEU][hapmap];0.85[EUR][1000 genomes]
rs9409709	0.96[CEU][hapmap]
rs9409710	0.96[CEU][hapmap];0.80[EUR][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	nsv482457	chr9:96813852-96996170	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	217 gene(s)	inside rSNPs	diseases
2	nsv831655	chr9:96834042-97042009	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	218 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	chr9:96904000-96927200	Weak transcription	Thymus	Thymus
2	chr9:96912200-96915600	Enhancers	Fetal Muscle Leg	muscle
3	chr9:96912400-96915600	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr9:96913400-96916200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr9:96913400-96916400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr9:96913400-96918800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr9:96913600-96916000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr9:96913600-96916000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr9:96913800-96919000	Weak transcription	Osteobl	bone
10	chr9:96914000-96919000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr9:96914000-96919000	Weak transcription	Fetal Lung	lung
12	chr9:96914000-96919000	Weak transcription	Fetal Stomach	stomach
13	chr9:96914000-96921000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr9:96914000-96921400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr9:96914200-96918600	Weak transcription	Lung	lung
16	chr9:96914200-96918800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr9:96914200-96919000	Weak transcription	HSMM	muscle
18	chr9:96914200-96919000	Weak transcription	HSMMtube	muscle
19	chr9:96914200-96919400	Weak transcription	Fetal Kidney	kidney
20	chr9:96914200-96921400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr9:96914400-96915200	Enhancers	Spleen	Spleen
22	chr9:96914400-96918400	Weak transcription	Adipose Nuclei	Adipose
23	chr9:96914400-96918800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr9:96914400-96918800	Weak transcription	HepG2	liver
25	chr9:96914400-96919000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr9:96914400-96919000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr9:96914800-96917000	Enhancers	Primary B cells from cord blood	blood
28	chr9:96914800-96917200	Enhancers	Primary B cells from peripheral blood	blood

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